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  Subjects -> DISABILITY (Total: 103 journals)
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Developmental Disabilities Research Reviews
Number of Followers: 29  
 
  Hybrid Journal Hybrid journal (It can contain Open Access articles)
ISSN (Print) 1940-5510 - ISSN (Online) 1940-5529
Published by John Wiley and Sons Homepage  [1763 journals]
  • A Pediatric Case of Benign Episodic Unilateral Mydriasis with Clinical
           Characteristics Resembling Tadpole Pupil

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      Authors: Henneberg; Rebecca Lise Gammelgaard, Vandborg, Pernille Kure, Hansen, Jonas Kjeldbjerg
      Abstract: Benign episodic unilateral mydriasis is an episodic disturbance with dilatation of the entire pupil, often lasting for hours. It occurs most frequently in women aged between 20 and 50 years and is closely associated with migraines. Only a few pediatric cases have been reported. The demographics of benign unilateral mydriasis correspond to another episodic disturbance of the pupil, the tadpole pupil. Also, the clinical similarities between the two conditions are numerous. However, tadpole pupil is an irregular distortion of the pupil lasting from seconds to minutes and occurring in clusters. We present a 16-year-old girl with benign unilateral mydriasis and migraine. Her episodes of mydriasis lasted from seconds to minutes, occurred in clusters, and were thus like episodes of tadpole pupil. Benign unilateral mydriasis presenting this way has not been reported previously. This observation links the phenotypes of benign unilateral mydriasis and tadpole pupil closer together. The given case provides new knowledge as it (i) expands the clinical spectrum of benign episodic unilateral mydriasis, (ii) links the phenotypes of benign unilateral mydriasis and tadpole pupil together, and (iii) in comparison with knowledge about autonomic failure in migraine patients may add to hypotheses on pathophysiology in both pupillary disorders.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-10-25T00:00:00+01:00
      DOI: 10.1055/s-0041-1736555
      Issue No: Vol. eFirst
       
  • Acute Ischemic Stroke in a Young Child and Its Association with SARS-CoV-2
           Infection

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      Authors: Shree, Nivya, Kommalur, Anitha, M; Lakshmi, Kariyappa, Mallesh, Devadas, Sahana, Kumble, Dhanalakshmi, Sajjan, Sushma Veeranna, Rangegowda, Ravichandra Kothur, Patel, Ashray Sudarshan
      Abstract: The coronavirus disease 2019 (COVID-19) in children has been shown to have lower morbidity and mortality in children as compared with adults. The neurological complications related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are increasingly reported in children, yet the cerebrovascular complications are rare. We report a case of a toddler who presented with right-sided hemiparesis and motor aphasia, with an antecedent history suggestive of COVID-19 infection. The child tested negative on the nasopharyngeal swab for real-time reverse transcription-polymerase chain reaction (RT-PCR), but the serology for anti-SARS-CoV-2 IgG assay was positive. The neuroimaging showed an acute infarct in the left middle cerebral artery territory. A detailed evaluation for causes of childhood stroke was unrevealing, except for the presence of severe iron deficiency anemia (IDA). The child was diagnosed as acute ischemic stroke (AIS) most probably secondary to mild COVID-19 infection. The objective of this case report is to explain the possibility of AIS after a mild COVID-19 infection, complicated by the underlying severe IDA. Therefore, an association between COVID-19 and stroke in children needs to be emphasized and RT-PCR for SARS-CoV-2 as well as serological assay must be included in the workup of stroke in the young.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-10-25T00:00:00+01:00
      DOI: 10.1055/s-0041-1736601
      Issue No: Vol. eFirst
       
  • Diagnostic Accuracy of SWAN in the Diagnosis of Low-Flow Brain Vascular
           Malformations in Childhood

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      Authors: Akyel; Nazlı Gülsüm, Alımlı, Ayşe Gül, Sivri, Mesut, Akmaz Ünlü, Havva, Tiftik, Mehmet
      Abstract: Purpose The main objective of this study is to demonstrate the diagnostic accuracy of susceptibility-weighted angiography (SWAN) in the diagnosis of slow-flow cerebral vascular malformations, especially developmental venous anomaly (DVA). We also aimed to determine the prevalence of DVAs identified by SWAN at 1.5 T. Methods We retrospectively evaluated 1,760 axial SWAN images for the diagnosis of low-flow vascular anomaly. Among them were 305 patients who underwent contrast-enhanced examination due to different indications. Postcontrast images were analyzed by different radiologists who were blinded to patients. The presence of DVA and other features such as location, length, depth, and direction of drainage vein was evaluated. Results Twenty-six patients with DVA had both SWAN and postcontrast images. There were four false-negative patients with SWAN. The sensitivity of the SWAN sequence was 84.6%. In addition, totally 77 DVA (4.36%), 2 capillary telangiectasia (0.11%), and 2 cavernous malformations (0.11%) were detected in 1,760 patients. Conclusion SWAN is an effective method for the diagnosis of developmental venous anomalies and other low-flow cerebral vascular malformations. Especially in the pediatric age, susceptibility-weighted imaging sequences are useful to limit contrast use.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-10-25T00:00:00+01:00
      DOI: 10.1055/s-0041-1736554
      Issue No: Vol. eFirst
       
  • Atypical Case of Early-Onset Shapiro Syndrome: Diagnostic Approach and
           Therapeutic Challenges

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      Authors: Monjaras-Romo; Alejandro, Villarreal, Enrique G., Diaz-Arizpe, Oscar, Vazquez-Mena, Jesus, Lozano-Lee, Francisco, Tambasco, Nicola
      Abstract: Shapiro syndrome (SS) is a rare disorder characterized by a triad of spontaneous periodic hypothermia, hyperhidrosis, and corpus callosum agenesis (CCA). Less than 80 cases have been reported so far. Its etiology and pathophysiology, however, are still unclear. In his original publication, Shapiro et al attributed these signs to dysregulation of encephalic pathways secondary to CCA. Nevertheless, since the syndrome was originally described, 19 patients have been reported with an intact corpus callosum, considering it a variant of the condition. In this article, we report the clinical outcome of a 20-month-old girl with SS without evidence of CCA, presenting an atypical onset in which sleep abnormalities were the most prominent complaints, with the classical episodic manifestations appearing afterward; the patient exhibited an optimal response to management with oxcarbazepine. To our understanding, this is fourth-youngest case ever reported of this SS variant, and the first to present sleep disturbances as the most prominent complaint.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-08-17T00:00:00+01:00
      DOI: 10.1055/s-0041-1733935
      Issue No: Vol. eFirst
       
  • Expanding the Phenotype of Molybdenum Cofactor Deficiency in Neonates:
           Report of Two Cases

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      Authors: Chandran; Shanu, Muthanandam, Dhayaguruvasan, Ponmudi, Nithya, Kumar, Manish
      Abstract: Molybdenum cofactor deficiency (MoCD) is a rare neurometabolic disorder characterized by intractable seizures, progressive microcephaly, tone abnormalities, facial dysmorphism, and feeding difficulties in the neonatal period. We present two different neonatal cases of MoCD with atypical presentations which could have been easily missed. One is a preterm baby admitted with features of sepsis, poor perfusion, and seizures who later developed tone abnormalities and feeding difficulty. The second is a term baby who presented with stridor, respiratory distress, and metabolic acidosis followed by intractable seizures and encephalopathy. Both babies had characteristic radiological and biochemical findings, and genome sequencing identified mutations in MOCS2 and MOCS1 genes, respectively. MoCD presenting as hypoxic-ischemic encephalopathy and cerebral palsy are well described, but its presentation in preterm with “sepsis-like features with drug-responsive seizures” in the early newborn period is not described, and can also cause unnecessary delay in the diagnosis. Its clinical presentation with “stridor, respiratory distress, and metabolic acidosis” is also described for the first time in literature.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-08-11T00:00:00+01:00
      DOI: 10.1055/s-0041-1733936
      Issue No: Vol. eFirst
       
  • Multifocal Calvarial Infarction with Epidural Hemorrhage in a Patient with
           Sickle Cell Vaso-Occlusive Crisis: A Case Report

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      Authors: Gudla; Vishaal, Presenza, Thomas, Scattergood, Emily, Solomon, Jason
      Abstract: While primarily a hematologic disease, sickle cell anemia is notorious for its multisystemic manifestations, particularly in episodes of vaso-occlusive crisis. Multifocal acute calvarial infarction with associated epidural hemorrhage has rarely been reported in sickle cell vaso-occlusive crisis. In this article, we reported a unique case of a 15-year-old male presenting with sickle cell vaso-occlusive crisis and neuroimaging findings of multifocal calvarial bone infarction and epidural hemorrhage. Radiologists and clinicians should be cognizant of this rare complication of sickle cell anemia to ensure appropriate diagnosis and timely treatment.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-08-11T00:00:00+01:00
      DOI: 10.1055/s-0041-1733937
      Issue No: Vol. eFirst
       
  • Practical Aspects of Functional Magnetic Resonance Imaging in Children

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      Authors: Bernal; Byron
      Abstract: Functional magnetic resonance imaging (fMRI) has become a broadly accepted presurgical mapping tool for pediatric populations with brain pathology. The aim of this article is to provide general guidelines on the pragmatic aspects of performing and processing fMRI, as well as interpreting its results across children of all age groups. Based on the author's accumulated experience of more than 20 years on this specific field, these guidelines consider many factors that include the particular physiology and anatomy of the child's brain, and how specific peculiarities may pose disadvantages or even certain advantages when performing fMRI procedures. The author carefully details the various challenges that the practitioner might face in dealing with limited volitional behavior and language comprehension of infants and small children and remedial strategies. The type and proper choice of task-based paradigms in keeping with the age and performance of the patient are discussed, as well as the appropriate selection and dosage of sedative agents and their inherent limitations. Recommendations about the scanner and settings for specific sequences are provided, as well as the required devices for appropriate stimulus delivery, response, and motion control. Practical aspects of fMRI postprocessing and quality control are discussed. Finally, given the relevance of resting-state-fMRI for use in noncooperative patients, a praxis-oriented guide to obtain, classify, and understand the spontaneous neural networks (utilizing independent component analysis) is also provided. The article concludes with a thorough discussion about the possible pitfalls at different stages of the fMRI process.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-08-11T00:00:00+01:00
      DOI: 10.1055/s-0041-1733853
      Issue No: Vol. eFirst
       
  • Antimicrobial Resistance and Predictors of Adverse Outcomes in Neonates
           with Bacterial Meningitis: a Retrospective Study from a Tertiary Care
           Hospital of Northern India

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      Authors: Lal; Sandeep N., Maria, Arti, Bandyopadhyay, Tapas
      Abstract: This study aimed to determine antimicrobial resistance pattern and predictors of adverse outcome in neonatal meningitis. A retrospective study by analyzing case files of 134 cases of neonatal meningitis. We noted an alarming degree of multidrug resistance (MDR) among both gram-negative (Klebsiella spp., 50%; Escherichia coli, 100%; and and Acinetobacter spp., 50%), as well as positive (Enterococcus, 100%) isolates in cerebrospinal fluid (CSF) culture. The incidence rate of adverse outcome (i.e., mortality and abnormal neurological examination at discharge) was 8.2 and 17.2%, respectively. On univariate analysis, delayed seeking of medical care, bulging anterior fontanelle, vomiting, positive sepsis screen, shock during hospital course, ventriculitis, diversion procedures for raised intracranial pressure, central line placement, low CSF sugar, and failed hearing screening test at discharge were associated with increased risk of adverse outcome. Further, delayed seeking of medical care, shock during hospital course, positive sepsis screen, thrombocytopenia, and MDR infections were independently found to be associated with adverse outcomes. An alarming degree of antimicrobial resistance among the CSF isolates necessitates the need to understand the pathogenesis of resistance and curtail the irrational prescription of antibiotics in neonatal meningitis. Further, delayed seeking of medical care, shock during hospital course, positive sepsis screen, thrombocytopenia, and MRD infection may have prognostic value in neonatal meningitis
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-07-26T00:00:00+01:00
      DOI: 10.1055/s-0041-1732347
      Issue No: Vol. eFirst
       
  • Identification of a Homozygous Deletion within FGD4 in a
           Charcot-Marie-Tooth type 4H Family by Exome Sequencing

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      Authors: Yarar; Coskun, Bas, Hasan, Celik, Gokalp, Cilingir, Oguz, Carman, Kursat Bora, Artan, Sevilhan
      Abstract: Charcot-Marie-Tooth (CMT) disease is a group of clinically and genetically heterogeneous peripheral neuropathies by causing distal muscle weakness, sensory impairment, hyporeflexia, and skeletal deformities. Both of sequence and copy number variations (CNVs) of over 80 genes have been described in CMT patients so far, and FGD4 variants are among the uncommon causes of the disease. In this article, we present four siblings with early-onset CMT, who were found to carry a novel homozygous deletion within FGD4 gene by exome sequencing. Since CNVs of CMT-related genes other than PMP22 have been rarely described in literature and they are prone to be overlooked by next generation sequencing, this report confirms the importance of paying additional attention to these variants to increase diagnostic yield in CMT.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-07-23T00:00:00+01:00
      DOI: 10.1055/s-0041-1732482
      Issue No: Vol. eFirst
       
  • Spastic Paraplegia Type 57: A Cerebral Palsy Mimic

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      Journal of Pediatric Neurology
      DOI: 10.1055/s-0041-1732483



      Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany

      Artikel in Thieme eJournals:
      Inhaltsverzeichnis     Volltext

      Journal of Pediatric Neurology ; : -2021-07-23T00:00:00+01:00
      Issue No: Vol. eFirst
       
  • Pediatric Miller Fisher Syndrome and Ocular Myasthenia Gravis (A Reminder
           of Clinical Mimicry): A Case Report

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      Authors: Barsoum; Zakaria
      Abstract: Miller Fisher syndrome (MFS) is a rare immune-mediated neuropathy that often presents with diplopia and bilateral external ophthalmoplegia. Other neurological deficits may occur such as ataxia and areflexia but not in all cases. Although MFS is a clinical diagnosis, serological confirmation is possible by identifying the anti-GQ1b antibody found in the majority of patients. Myasthenia gravis is an autoimmune disorder of the availability of acetylcholine receptors in the neuromuscular junction. Ocular myasthenia gravis is a disease subtype characterized by variable patterns of weakness of extraocular muscles, eyelid elevator, and orbicular muscle in which the initial sign in most adults and children is ptosis. We report a child with MFS who presented with clinical signs suggestive of ocular myasthenia gravis, but in whom the correct diagnosis was made on the basis of serological testing for the anti-GQ1b antibody. We aim to highlight the similarity between the two rare conditions and address the importance of early liaison with neurologists and ophthalmologists in reaching to the proper diagnosis.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-07-22T00:00:00+01:00
      DOI: 10.1055/s-0041-1732484
      Issue No: Vol. eFirst
       
  • Idiopathic Moyamoya Disease Presenting as Isolated Hemichorea

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      Authors: Hamid; Omer Abdul, Klimo, Paul, Choudhri, Asim F., Shah, Namrata
      Abstract: The study aimed to describe a case of a 7-year-old Caucasian girl who developed isolated chorea in her right upper and lower extremities progressively increasing over 2 years. This study is a case report and conducted at tertiary care center. A 7-year-old Caucasian girl who gradually developed worsening choreiform movements in her right upper and lower extremities over the course of 2 years until medical attention was sought. Literature review of children presenting with chorea as the only manifestation in moyamoya disease. A 7-year-old right-handed Caucasian girl presented with progressively worsening choreiform movements in her right upper and lower extremities affecting her fine motor skills and gait impairment There was no weakness, hyperreflexia, or spasticity on her neurological exam. Neuroimaging studies showed “ivy sign,” asymmetric prominence of vessels within the subarachnoid spaces overlying the left cerebral hemisphere with corresponding serpiginous T2 fluid-attenuated inversion recovery abnormality, but no parenchymal volume loss or diffusion restriction. Magnetic resonance angiography showed focal moderate-to-severe stenosis at the junction of the paraophthalmic and supraclinoid segments of the left internal carotid artery, with poststenotic dilatation. Angiography demonstrated focal stenosis involving the ophthalmic segment of the left internal carotid artery with 50% stenosis. There was compensation through a medium sized left posterior communicating artery as well as posterior cerebral artery to middle cerebral artery and anterior cerebral artery collateralization. Brain single-photon emission computerized tomography scan showed no evidence of perfusion defects in the cerebral hemispheres, basal ganglia, or thalami. She underwent successful revascularization procedure (left pial synangiosis) with resolution of her choreiform movements and normalization of her gait. Our case demonstrates that moyamoya disease should be suspected when evaluating a child with hemichorea and describes resolution of symptoms after revascularization surgery. Neuroimaging and vascular studies should be obtained in children with unilateral movement disorder.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-07-22T00:00:00+01:00
      DOI: 10.1055/s-0041-1731028
      Issue No: Vol. eFirst
       
  • Screening for Inherited Metabolic Disorders by Tandem Mass Spectrometry
           May Miss L-2 Hydroxy Glutaric Aciduria: A Report of Two Cases

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      Authors: Baskar; Dipti, Nashi, Saraswati, Rajendran, Srijithesh P., Arunachal, Gautham, Christopher, Rita, Kulkarni, Girish B., Alladi, Survarna
      Abstract: L-2 hydroxy glutaric aciduria (L-2HGA) is an autosomal recessive neurometabolic disorder. It is characterized by a variety of clinical features and typical radiological features which aids in diagnosis. We report two cases that presented with unexplained intellectual impairment and seizures. Magnetic resonance imaging (MRI) brain showed characteristic features of L-2HGA. Tandem mass spectrometry was negative in both cases. Genetic analysis was done based on typical imaging features which confirmed the diagnosis of L-2HGA. For patients with unexplained developmental delay and typical MRI features, a high degree of suspicion is necessary to confirm the diagnosis with targeted genetic analysis.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-07-19T00:00:00+01:00
      DOI: 10.1055/s-0041-1731773
      Issue No: Vol. eFirst
       
  • Chudley–McCullough Syndrome: Case Report and the Role of
           Neuroimaging to Suggest the Diagnosis

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      Authors: Freitas; Leonardo Furtado, Barros, Gabriel Santaterra, Barletta, Enrico Affonso, de Araújo Coimbra, Pablo Picasso, Lourenço, Charles Marques, Ferreira, Paula Mendes
      Abstract: Chudley–McCullough syndrome (CMS) is an autosomal recessive condition first described in 1997. The most striking features of this syndrome include sensorineural hearing loss, craniofacial disproportion, and brain abnormalities such as agenesis of the corpus callosum, polymicrogyria, ventriculomegaly, and changes in cerebellar architecture. We describe the case of a 2-year-old patient with CMS confirmed by genetic testing (GPSM2 gene mutation), who presented with global developmental delays and characteristic neuroimaging features including arachnoid cysts, agenesis of the corpus callosum, cerebellar dysplasia, and frontal heterotopia. Early recognition of this rare clinical syndrome may reduce the diagnostic odyssey and ultimately improve the quality of life for affected children. This report will focus on unique clinical and radiographic features of CMS.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-07-08T00:00:00+01:00
      DOI: 10.1055/s-0041-1731411
      Issue No: Vol. eFirst
       
  • An Analysis of Disorders Presenting at a Pediatric Neurology Outpatient
           Clinic: A Report from Turkey

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      Authors: Sarıkaya; Emre, Yavuz, Halûk
      Abstract: Neurological problems constitute an important part of diseases in children. Studies evaluating neurological diseases in children collectively and reporting their types and rates are very few. We report the clinical and laboratory spectra of children presenting with neurological diseases to our clinic. The charts of patients who presented for the first time to the only pediatric neurology outpatient clinic in the region during a year were evaluated retrospectively. A total of 88,785 patients were seen at the Meram Faculty of Medicine pediatric outpatient clinics in 1 year; 5.5% (4,904) of these patients were seen at the child neurology clinic and 1,807 patients (36.8%) were seen for the initial evaluation. Medical charts of 1,685 (93.2%) patients were reviewed: 952 (56.5%) were male patients and 733 were females. The mean age was 5.77 ± 4.92 years; 30.9% of the patients had a similar disease in the family. The top three presenting complaints that led to hospital seen were seizures (12.2%), paroxysmal events (10%), and headaches (9.2%). The most common diagnoses were epilepsy (18%), headache (8.6%), and developmental delay (7.8%). Our study describes the characteristics of the large number of patients seen for the first time in the child neurology outpatient clinic.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-07-08T00:00:00+01:00
      DOI: 10.1055/s-0041-1731725
      Issue No: Vol. eFirst
       
  • Evaluation of Metabolic Effects of Nusinersen in Patients with Spinal
           Muscular Atrophy

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      Authors: Becker; Lena-Luise, Weiss, Claudia, Günther, René, Hermann, Andreas, Theophil, Manuela, Hübner, Angela, Smitka, Martin, von der Hagen, Maja, Kaindl, Angela M.
      Abstract: Nusinersen is the first disease-modifying therapy for spinal muscular atrophy (SMA), but there are few data on potential long-term endocrinological and metabolic systemic effects of this novel treatment as well as metabolic alterations in SMA itself. In this retrospective and multicentric study, we analyzed anthropometric, endocrinological, and motor function data of 81 pediatric and adult patients with SMA1 to 3 undergoing treatment with nusinersen. In 39 patients (51%), we observed a slight increase in body mass index (BMI) centiles under treatment with nusinersen, especially in patients with SMA2 and in pediatric patients between 3.1 and 12 years. A correlation to the SMN2 copy number or motor function was not found. Additionally, length centiles decreased significantly under treatment. The results of longitudinal endocrinological assessments were interpreted as not clinically significant in most patients; in three patients, the signs of an altered glucose metabolism were present. Our study indicates a putative effect of treatment with nusinersen on BMI, which might be due to a conjoint effect of weight gain and reduction of height velocity, without evidence of correlation to increased muscle function. Further studies need to address specific effects of targeted therapies such as nusinersen or onasemnogene abeparvovec on body composition including fat and muscle mass.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-07-03T00:00:00+01:00
      DOI: 10.1055/s-0041-1731395
      Issue No: Vol. eFirst
       
  • Psychosocial and Socioeconomic Factors in Children with Neurofibromatosis
           Type 1

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      Authors: Leppich; Katalin, Schneider, Joanna, Eismann, Caroline, Ryczek, Monika, Potratz, Cornelia, Kaindl, Angela M.
      Abstract: The aim of this study is to analyze whether children with familial and sporadic neurofibromatosis type 1 (NF1) differ in psychosocial and socioeconomic aspects such as developmental delay as well as in comorbidities. Medical records of 250 children with NF1 at a median age of 10.6 years (range = 2–20 years at time of data collection) were retrospectively reviewed. Specifically, psychosocial and socioeconomic factors from 88 children with a family history for NF1 and 162 sporadic cases were compared. Comparing IQ, familial cases scored significantly lower than sporadic cases (89.8 vs. 96.5; p = 0.015). IQ scores of children with familial and sporadic NF1 differ depending on level of parental education (mean IQ for high education 101.3 [familial] and 102.8 [sporadic] vs. low education 87.5 [familial] and 90.4 [sporadic]; p 
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-07-03T00:00:00+01:00
      DOI: 10.1055/s-0041-1731393
      Issue No: Vol. eFirst
       
  • Case of Steroid-Sensitive Neuronopathy as a Differential Diagnosis to
           Dissociative Paralysis in Conversion Disorder

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      Authors: Brehme; Hannes, Buchmann, Johannes
      Abstract: Neuromuscular diseases are sometimes challenging in diagnosis, often associated with progressive symptoms. In rare cases, there are treatable reasons. We report about a 11-year-old female adolescent who developed subacute progressive paralysis over nearly half a year ago. She was presented to our department as a case of psychosomatic disease. After reevaluating her diagnosis with electrophysiology, cerebrospinal fluid, magnetic resonance imaging, and even biopsy and genetic testing, we treated her with intravenous methylprednisolone. Her symptoms were retreated during 3 months, and no further signs during a 18-month follow-up appeared. No psychotherapy was necessary.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-06-26T00:00:00+01:00
      DOI: 10.1055/s-0041-1731394
      Issue No: Vol. eFirst
       
  • A Case of Influenza Virus-Induced Acute Cerebellitis Treated with Steroid
           Pulse Therapy

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      Authors: Hirota; Yukiho, Minamikawa, Shogo, Ishida, Yusuke, Maruyama, Azusa, Nakagishi, Yasuo
      Abstract: Acute cerebellitis (AC) is characterized by acute onset cerebellar ataxia brain magnetic resonance imaging (MRI) abnormalities of the cerebellum. The most common cause of AC is viral infection, and some patients with AC experience neurological sequelae. AC associated with influenza virus is extremely rare, and its prognosis and treatment are unknown. We present the case of a 2-year-old boy with influenza virus-induced AC who was treated with pulse steroid therapy. The patient presented with fever, anorexia, vomiting, malaise, altered consciousness, truncal ataxia, dysmetria, and dysarthria. He was diagnosed with influenza using a nasopharyngeal antigen test. Brain MRI showed hyperintense T2 and diffusion-weighted signal abnormalities in the cerebellar white matter and dentate nuclei bilaterally. The patient was treated with two courses of pulse methylprednisolone therapy and recovered completely in 2 months after the onset. The prognosis of AC is poorer than that of acute cerebellar ataxia, which shows similar symptoms to AC with normal brain MRI. The type of virus might also be associated with the prognosis of AC. Literature review showed that one of the five cases (including the present case, 20%) reported with influenza-associated AC was noted to have neurological sequelae, which might be more severe than those of varicella-zoster-related AC. Given that the pathogenesis of AC is assumed to be immune-mediated, pulse methylprednisolone therapy might be a good option for the treatment of influenza virus-induced AC.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-06-26T00:00:00+01:00
      DOI: 10.1055/s-0041-1731029
      Issue No: Vol. eFirst
       
  • Burkitt Lymphoma Presenting as a Paraneoplastic Demyelinating Disorder in
           a Child

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      Authors: Sadanand; Arhanti, Jain, Juhi, Elkins, Kathryn, Bergsagel, Daniel John
      Abstract: In adults, lymphomas have been associated with paraneoplastic syndromes that cause cranial nerve palsies, polyneuropathies, and paraplegias. These have been less frequently reported in children. We describe a pediatric patient who initially presented with palsy of her left third cranial nerve and bilateral ptosis. Initial diagnosis was concerning for myasthenia gravis, but after additional diagnostic evaluation, she was found to have acute motor axonal neuropathy. Cerebrospinal fluid studies were consistent with a diagnosis of Burkitt lymphoma. We discuss the importance of considering primary oncologic diagnoses in acute neurologic disorders with unusual presentations.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-06-26T00:00:00+01:00
      DOI: 10.1055/s-0041-1731398
      Issue No: Vol. eFirst
       
  • Stroke as Presenting Feature of COVID-19 in a Pediatric Patient

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      Authors: Swartwood; Shanna, Nelson, Gary R., Espinoza, Audie C.
      Abstract: Neurologic manifestations of severe acute respiratory syndrome coronavirus 2, the virus responsible for novel coronavirus 2019 (COVID-19) infection, have been frequently reported in the adult population but remain relatively rare in pediatric patients, specifically in regard to cerebrovascular accidents (CVAs). We present the case of a previously healthy 16-year-old adolescent boy with no preceding infectious symptoms who developed acute onset of left-sided weakness and slurred speech subsequently diagnosed with acute ischemic stroke (AIS). After performing a thorough diagnostic work-up, no clear etiology for AIS was identified. He was found to be COVID-19 positive by reverse transcription polymerase chain reaction upon admission. Accumulating evidence supports a link between COVID-19 and a systemic prothrombotic state suggesting pediatric patients who present with AIS and no other risk factors should be screened for this novel virus and potentially for extracranial sources of thrombi. As the rates of positive COVID-19 infection increase in the pediatric population, pediatricians and other pediatric subspecialists should be aware of the potential neurological and cerebrovascular complications of this novel virus to avoid delays in evaluation and intervention.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-06-26T00:00:00+01:00
      DOI: 10.1055/s-0041-1731396
      Issue No: Vol. eFirst
       
  • A Curious Case of Progressive Respiratory Failure Due to Anterior Spinal
           Cord Infarction in an Adolescent Boy: A Case Report and Review of the
           Literature

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      Authors: Putzeys; Caroline Chinchilla, Batra, Mansi, Maertens, Paul, Sharma, Kamal
      Abstract: Clinical features of cervical spontaneous spinal cord infarctions (SSCIs) remain poorly described in the literature. The goal of this article is to improve recognition of cervical SSCI, a rare but life-threatening condition. We present a 15-year-old adolescent boy who developed neck pain with weakness and numbness in all four limbs half an hour after returning from a hike in the late afternoon. The next morning, he was brought to the emergency room due to persistent weakness, vomiting, and progressive respiratory distress. He was promptly intubated for airway protection. Pupils were 2 mm, sluggishly reactive, and all four extremities were flaccid. He was found to have anterior spinal cord syndrome. Light touch (brush) was normal down to the posterior aspect of shoulders. Cervical magnetic resonance imaging (MRI) showed increased T2/short-tau inversion recovery and decreased T1 signal of the anterior spinal cord from C3 to C7. Four days later, MRI of the spinal cord showed restricted diffusion of anterior spinal cord consistent with radicular artery territory infarction. The work-ups for infection, thrombosis, and cardioembolism were all negative. Three months later, he still had incomplete Brown-Séquard's syndrome, as position sense was preserved. There was in addition bilateral loss of pain and temperature sensations below the clavicles. MRI showed cervical myelomalacia most severe between C3 and C5. Furthermore, MRI showed changes in C3–C4 intervertebral disc, consistent with a fibrocartilaginous embolism via retrograde arterial route into the anterior spinal artery. This article demonstrates the importance of recognizing subtle clinical clues leading to cervical SSCI diagnosis.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-06-26T00:00:00+01:00
      DOI: 10.1055/s-0041-1731397
      Issue No: Vol. eFirst
       
  • Clinical Spectrum of Ocular and Visual Dysfunction in Children with
           Periventricular Leukomalacia: A Need for an Interdisciplinary Approach

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      Authors: Ozturker; Zeynep Kayaarasi, Bayar, Sezin Akca, Oto, Sibel, Aksoy, Sibel, Akkoyun, Imren, Sezer, Taner
      Abstract: The study aimed to evaluate the ocular motility and visual and optic disc abnormalities in children diagnosed with periventricular leukomalacia (PVL). A retrospective analysis was performed on 51 consecutive children who had ophthalmic symptoms and were diagnosed with PVL by using magnetic resonance imaging. The patients were assessed for visual function, strabismus, cycloplegic refraction, fundus examination, and if appropriate, spectral-domain optical coherence tomography and visual field testing were applied. The primary outcome measures were the prevalence and visual and ocular motility dysfunctions. Mean age was 5.72 ± 2.6 years (range = 1–12), median birth weight was 2,740 g (range = 1,240–3,460), and median gestational age was 34 weeks (range = 28–38). In total, 21 patients (39.6%) had neurological deficit, 11 (21.5%) had intellectual disability, and 19 (37.2%) had no neurological symptom. In the spherical equivalent refractive error and cylinder power analysis, 10 patients had ≥3.0 D myopia, 15 had ≥3.0 D hyperopia, and eight had ≥2.50 D astigmatism. Thirteen (25.4%) children had a best-corrected visual acuity between 20/40 and 20/20 for Snellen card, while 9 (17.6%) had strabismic amblyopia and 6 (11.7%) had anisometropic amblyopia. Manifest strabismus was present in 35 patients (68.6%); of whom 12 had esotropia (23.5%), 16 had exotropia (31.3%) and 6 had vertical deviation (11.7%). Manifest or latent nystagmus was detected in 14 patients (27.4%). In 28 patients (54.9%), there was optic nerve abnormality. Two patients had hypoplastic disc, 14 had optic disc pallor, 7 had large cupping, and 5 had total optic atrophy. Six subjects underwent reliable visual field (VF) examinations, and all six had abnormal VFs, with inferior fields being most affected. Ocular motility disorders, optic nerve abnormalities, VF defects, and low visual acuity are common findings in this cohort of PVL patients and maybe the only presenting signs of the disease. The recognition of the visual disabilities and implementation of early rehabilitation may have a significant benefit in these children.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-06-22T00:00:00+01:00
      DOI: 10.1055/s-0041-1731027
      Issue No: Vol. eFirst
       
  • Exome Sequencing Reveals Diagnosis of LAMA2-Muscular Dystrophy and
           Possibility of Coexisting Bethlem Myopathy in a Neonate

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      Authors: Bajaj; Shruti, Shah, Piyush, Seenappa, Venu, Kalyankar, Jayashree, Hingwala, Divyata
      Abstract: We reported a neonate presenting with muscle weakness, hypotonia, and joint contractures since birth. Investigations revealed significantly elevated creatinine-phosphokinase, abnormal electromyography suggestive of muscle disease and normal magnetic resonance imaging (MRI) of the brain. Exome sequencing revealed homozygous pathogenic mutations in LAMA2 (NM_000426.3: c.7881T > G, p.(His2627Gln)) and a heterozygous likely-pathogenic mutation in COL6A2 (NM_001849.3: c.1970–2A > G). Parental segregation by Sanger sequencing confirmed a heterozygous carrier state for the LAMA2 variant in both parents, thus confirming the diagnosis of autosomal recessive LAMA2-muscular dystrophy (LAMA2-MD) in the proband. The COL6A2 variant segregated with the as-yet asymptomatic mother. Musculoskeletal MRI of the proband at 12 months of age revealed peripheral involvement of the vastii, rectus femoris, gastrocnemius and the soleus, with relative central sparing, without areas of fatty infiltration; not serving to distinguish clearly between LAMA-MD and COL6A2- related disease. Reverse phenotyping of a 27-year-old mother revealed a normal musculoskeletal MRI and clinically absent red flags. Potential explanations for the heterozygous likely-pathogenic COL6A2 variant in the proband and the mother include (a) a coexisting diagnosis of autosomal dominant COL6A2-related myopathy, likely Bethlem myopathy, which has a variable clinical phenotype and age of onset; (b) a carrier state for autosomal recessive Ullrich congenital muscular dystrophy; or (c) a heterozygous COL6A2 variant contributing as a synergistic factor along with homozygous LAMA2 mutation. The couple was offered genetic counseling regarding the proband and the future pregnancies.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-06-19T00:00:00+01:00
      DOI: 10.1055/s-0041-1731025
      Issue No: Vol. eFirst
       
  • Cognitive and Behavioral Profiles of Children with Aspartylglucosaminuria:
           A Case Series

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      Authors: Crowe; Louise M., Brown, Amy, Peters, Heidi
      Abstract: Aspartylglucosaminuria (AGU) is a rare lysosomal storage disorder with an autosomal recessive inheritance. It affects the aspartylglucosaminidase (AGA) gene and causes a deficiency in activity of the enzyme N-aspartyl-β-glucosaminidase with resultant accumulation of glycoasparagines in body tissues. Children with AGU present with developmental delays in cognitive and language skills. Currently, information on cognition and behavior of children with AGU is limited. This case series presents the neuropsychological and behavioral profiles of three children with AGU assessed at two time points. All the three children had full-scale intelligence quotient (IQ) scores in the intellectual disabled range (
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-06-19T00:00:00+01:00
      DOI: 10.1055/s-0041-1730964
      Issue No: Vol. eFirst
       
  • Factor XIII Deficiency and Intracranial Bleed: Surgical Management and
           Prophylaxis with Cryoprecipitate

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      Authors: Furtado; Sunil V., Hegde, Pranoy, Palassery, Rasmi, Karunakara, B. P.
      Abstract: Factor XIII (FXIII) deficiency is a rare bleeding disorder with affected patients having high propensity for intracranial hemorrhage. A 12-year-old girl presented with severe headache, limb weakness, and rapidly worsening sensorium over 4 days. Magnetic resonance imaging of the brain and computed tomography (CT) of the head showed intraparenchymal bleed. Patient had normal coagulation profile and abnormal FXIII level. The perioperative management included cryoprecipitate transfusion to bring the FXIII value to 74%. She underwent craniotomy and evacuation of the hematoma. Postoperatively, she received prophylaxis against rebleed with cryoprecipitate. In the absence of FXIII concentrate, correction of FXIII deficiency is possible with cryoprecipitate in emergent situations.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-06-19T00:00:00+01:00
      DOI: 10.1055/s-0041-1731026
      Issue No: Vol. eFirst
       
  • Facial Neuritis as a Manifestation of Gradenigo's Syndrome

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      Authors: Kentab; Amal Y., Kentab, Osama Y.
      Abstract: Gradenigo's syndrome (GS) is a rare, acquired syndrome caused by middle ear infections or mastoiditis. It is identified by the triad of otorrhea due to otitis media (OM), retro-orbital pain in the region innervated by the first and second divisions of the trigeminal nerve, and diplopia as a result of cranial nerve (CN) VI palsy. As a result of extension of the inflammation, the facial nerve (VII) may also be affected. GS has a poor prognosis unless promptly diagnosed and treated. Herein, we report the clinical and radiological findings observed in two children diagnosed with chronic suppurative OM, mastoiditis, and facial neuritis. Both were medically managed as cases of GS with high-dose intravenous antibiotic and full recovery was achieved a few weeks after discharge. There was no need for any surgical intervention. This report illustrates the importance of early recognition, diagnosis, and treatment of this treatable syndrome using antibiotics to prevent subsequent fatal complications and further need for surgical intervention.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-06-19T00:00:00+01:00
      DOI: 10.1055/s-0041-1730920
      Issue No: Vol. eFirst
       
  • Denosumab-Induced Proximal Myopathy in a Child

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      Authors: PV; Sripadma, Jain, Rajendra S, Agarwal, Jitesh
      Abstract: Denosumab, a fully humanized monoclonal antibody, has been used for the treatment of osteoporosis, in complications resulting from bone metastatic disease and in giant cell tumor in both adults and skeletally mature adolescents. Denosumab is an inhibitor of the receptor activator of nuclear factor kappa-B ligand and belongs to a new class of antiresorptive medications. We report a unique case of myopathy in a 13-year-old boy prescribed denosumab for enchondromatosis. The boy presented with hypovitaminosis D, elevated parathyroid hormone, suppressed alkaline phosphatase, hypocalcemia, and hypophosphatemia after a single dose of denosumab. Our case points to altered calcium–vitamin D homeostasis induced by denosumab. Myopathy associated with denosumab has not been described previously in children. Early recognition of myopathy and adequate supplementation with calcium–vitamin D may ensure a more favorable clinical outcome.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-06-11T00:00:00+01:00
      DOI: 10.1055/s-0041-1729738
      Issue No: Vol. eFirst
       
  • Acute Disseminated Encephalomyelitis (ADEM) Following Campylobacter jejuni
           Infection in a 12-Year-Old Girl

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      Authors: Camelo; Ingrid Yolanda, Rana, Mandeep, Cooper, Ellen Rae
      Abstract: We reported a case of acute disseminated encephalomyelitis (ADEM) in a 12-year-old girl shortly after developing fever and vomiting, and ultimately found to have Campylobacter jejuni by antigen detection and conventional stool culture. Campylobacter jejuni has been associated with peripheral demyelinating diseases including Guillain–Barre's syndrome, but it has not been previously implicated in central demyelination in children. The clinical description and review of the literature are included here.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-06-01T00:00:00+01:00
      DOI: 10.1055/s-0041-1728776
      Issue No: Vol. eFirst
       
  • Resurgence of Subacute Sclerosing Panencephalitis: Case Series and Global
           Epidemiological Trends

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      Authors: Srivastava; Kavita, Agarwal, Ekta, Rajadhyaksha, Surekha
      Abstract: Resurgence of subacute sclerosing panencephalitis (SSPE)—case series and global epidemiological trends. We noted a recent increase in cases of SSPE admitted in our institute, even though they had received measles vaccination. We did a detailed study of our cases and compared with global epidemiological trends of SSPE in preimmunization and era of developed immunity. Out of total 23 cases of SSPE, 12 presented in the year 2017 alone, reflecting a steep rise in incidence. Sixteen patients had received measles vaccine and never had prior measles infection. Mean age of onset was 8.2 years and average time of progression to advanced stage of disease was 65 days. Global data showed similar trends, that is, earlier age of onset with a faster rate of progression in the postvaccination era as compared with prevaccine era. Possible mechanisms to account for this trend include an early wild measles infection in the critical age of 6 to 9 months, before vaccination. There is a changing epidemiological trend of SSPE in terms of lower age of onset and faster rate of progression, also reflected in global data. There is a need for multicenter studies to verify the findings and explore possible measures like lowering the age of measles vaccination to halt this alarming trend.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-06-01T00:00:00+01:00
      DOI: 10.1055/s-0041-1728774
      Issue No: Vol. eFirst
       
  • SLC2A1 and Its Related Epileptic Phenotypes

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      Authors: Patanè; Francesca, Pasquetti, Elisa, Sullo, Federica, Tosto, Monica, Romano, Catia, Salafia, Stefania, Falsaperla, Raffaele
      Abstract: Glucose transporter type 1 deficiency syndrome (GLUT1DS) is caused by heterozygous, mostly de novo, mutations in SLC2A1 gene encoding the glucose transporter GLUT1, the most relevant energy transporter in the blood–brain barrier. GLUT1DS includes a broad spectrum of neurologic disturbances, from severe encephalopathy with developmental delay, to epilepsy, movement disorders, acquired microcephaly and atypical mild forms. For diagnosis, lumbar puncture and genetic analysis are necessary and complementary; an immediate response to ketogenic diet supports the diagnosis in case of high suspicion of disease and negative exams. The ketogenic diet is the first-line treatment and should be established at the initial stages of disease.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-06-01T00:00:00+01:00
      DOI: 10.1055/s-0041-1728668
      Issue No: Vol. eFirst
       
  • SCN8A and Its Related Epileptic Phenotypes

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      Authors: Praticò; Andrea, Gulizia, Carmela, Gangi, Gloria, Oliva, Claudia, Romano, Catia, Marino, Simona, Polizzi, Agata, Ruggieri, Martino, Falsaperla, Raffaele
      Abstract: Sodium channelopathies are among the most common single-gene causes of epilepsy and have been considered model disorders for the study of genetic epilepsies. Epilepsies due to SCN8A pathogenic variants can present with a broad range of phenotypes varying from a severe epileptic encephalopathy with multiple types of drug-resistant seizure to neurodevelopmental delay, mental retardation, and electroencephalogram (EEG) findings of multifocal spike and waves (mostly in the temporal/parietal/occipital areas). In rare cases, benign familial infantile seizures and developmental delay with/without ataxia have been reported. A first-level, specific SCN8A Sanger's sequencing, although available, is rarely performed because the clinical phenotype is not strictly characteristic and several overlaps with other genetic epilepsies may occur. Given its indistinctive phenotype, diagnosis is usually performed through a specific gene panel for epileptic encephalopathies, early epilepsies, or genetic epilepsy in general, or through whole exome sequencing (WES) and more rarely through whole genome sequencing (WGS). Mutations in SCN8A occur as an autosomal dominant trait. The great majority of individuals diagnosed with SCN8A epilepsy do not have an affected parent, because usually SCN8A patients do not reproduce, and mutations are inherited as a “de novo” trait. In rare cases, SCN8A mutations may be inherited in the setting of parental germline mosaicism. SCN8A-related epilepsies have not shown a clear genotype–phenotype correlation, the same variants have been described with different clinical expressivity and this could be due to other genetic factors or to interacting environmental factors. There is no standardized treatment for SCN8A-related epilepsy because of the rarity of the disease and the unavailability of specific, targeted drugs. Treatment is based mainly on antiepileptic drugs which include classic wide-spectrum drugs such as valproic acid, levetiracetam, and lamotrigine. Sodium-channel blockers (phenytoin, carbamazepine, oxcarbazepine, and lamotrigine) have shown appreciable results in terms of seizure reduction, in particular, in patients presenting gain-of-function mutations. Nowadays, new potentially transformative gene therapy treatment approaches are currently being explored, allowing in the next future, a precision-based treatment directed against the gene defect and protein alterations.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-05-28T00:00:00+01:00
      DOI: 10.1055/s-0041-1729142
      Issue No: Vol. eFirst
       
  • Critical Illness Myopathy in a Child with SARS-CoV-2 Infection

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      Authors: Jiménez-Legido; María, Soto-Insuga, Víctor, Luján-Bonete, Manuel, Cantarín-Extremera, Verónica, Bernardino-Cuesta, Beatriz, Mansilla-Lozano, David, Leoz-Gordillo, Inés, Rodríguez-Palero, Serafín, Buendía-Martínez, Silvia, Duat-Rodríguez, Anna, Ruíz-Falcó-Rojas, María Luz
      Abstract: A variety of symptoms affecting the nervous system and/or skeletal muscle have been described during the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) pandemic. Though largely unexplored in children, intensive care unit-acquired weakness (ICU-AW) is associated with significant comorbidities. No previous pediatric cases of ICU-AW associated with coronavirus disease 2019 have been reported. A 12-year-old boy with SARS-CoV-2 infection developed systemic inflammatory response syndrome. Seven days later, he developed severe muscle weakness, with a creatine kinase level of 402 U/L. Nerve conduction studies and electromyography revealed a myopathic pattern. Severe pediatric cases of SARS-CoV-2 infection may develop ICU-AW. Early diagnosis and rehabilitation may decrease comorbidity and improve quality of life.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-05-21T00:00:00+01:00
      DOI: 10.1055/s-0041-1728700
      Issue No: Vol. eFirst
       
  • Exercise Intolerance and Rhabdomyolysis Due to Dystrophinopathy: A
           Pseudometabolic Presentation

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      Journal of Pediatric Neurology
      DOI: 10.1055/s-0041-1728693



      Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany

      Artikel in Thieme eJournals:
      Inhaltsverzeichnis     Volltext

      Journal of Pediatric Neurology ; : -2021-05-21T00:00:00+01:00
      Issue No: Vol. eFirst
       
  • TSC1 and TSC2: Tuberous Sclerosis Complex and Its Related Epilepsy
           Phenotype

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      Authors: Di Napoli; Claudia, Gennaro, Alessia, Lupica, Carmelania, Falsaperla, Raffaele, Leonardi, Roberta, Garozzo, Maria Teresa, Polizzi, Agata, Praticò, Andrea D., Zanghì, Antonio, Ruggieri, Martino
      Abstract: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by a multisystemic involvement. In TSC, reduced function of TSC1 and TSC2 genes products (hamartin and tuberin, respectively) leads to an hyperactivation of the mechanistic target of rapamycin (mTOR) pathway and to a consequent cell growth dysregulation. In TSC patients, neurological and neuropsychiatric manifestations, especially epilepsy and neuropsychiatric comorbidities such as autism or intellectual disability, represent the most disabling features. In particular, epilepsy occurrs up to 80% of patients, is often drug resistant and is frequently associated with neurological impairment. Due to the burden of this morbidity, different treatment strategies have been proposed with the purpose to make patients epilepsy free, such as the use of different antiepileptic drugs like vigabatrin, carbamazepine, valproic acid, and levetiracetam. More recently, a mTOR inhibitor (i.e. everolimus) has showed promising results in terms of seizures reduction.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-05-21T00:00:00+01:00
      DOI: 10.1055/s-0041-1727142
      Issue No: Vol. eFirst
       
  • SYNGAP1 and Its Related Epileptic Syndromes

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      Authors: Garozzo; Maria Teresa, Caruso, Daniela, La Mendola, Flavia Maria Consuelo, Di Nora, Alessandra, Romano, Katia, Leonardi, Roberta, Falsaperla, Raffaele, Zanghì, Antonio, Praticò, Andrea D.
      Abstract: Synaptic Ras GTPase-activating protein 1 (SYNGAP1) is abundantly expressed in the postsynaptic space in brain tissue and has a crucial role in the regulation of the excitatory/inhibitory balance and in brain development. It is estimated that SYNGAP1 loss of function variants have an incidence of 1 to 4/10,000 individuals, mostly occurring de novo, even if few cases of vertical transmission of mosaic mutations have been reported. Loss-of-function mutations within this gene have been related with an epileptic encephalopathy characterized by eyelid myoclonia with absences (EMA) and myoclonic-atonic seizures (MAE) with early onset, commonly resistant to antiepileptic drugs (AED). Epilepsy is often associated with other clinical features, including truncal and/or facial hypotonia and/or ataxia with a wide-based and unsteady gate. Other clinical signs are intellectual disability, developmental delay, and behavioral and speech impairment, in a context of a normal neuroimaging study. In selected cases, dysmorphic features, skeletal abnormalities, and eye involvement are also described. The diagnosis of the disorder is usually established by multigene panel and, in unsolved cases, by exome sequencing. Management of the affected individuals involves different specialists and is mainly symptomatic. No clinical trials about the efficacy of AED in SYNGAP1 encephalopathy have been performed yet and Lamotrigine and valproate are commonly prescribed. In more than half of cases, however, epilepsy is refractory to AED.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-05-21T00:00:00+01:00
      DOI: 10.1055/s-0041-1727144
      Issue No: Vol. eFirst
       
  • ALDH7A1 Gene and Its Related Pyridoxine-Dependent Epilepsy

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      Authors: La Mendola; Flavia Maria Consuelo, Timpanaro, Tiziana, Caruso, Daniela, Garozzo, Maria Teresa, Presti, Santiago, Romano, Catia, Praticò, Elena R., Lombardo, Giulia, Zanghì, Antonio, Falsaperla, Raffaele
      Abstract: Despite being classically reported as caused by mutations in solute carriers genes (SLC2A1), it has been recently shown that also mutations in ALDH7A1 can cause pyridoxine-dependent epilepsy (PDE). ALDH7A1 is a gene encoding for the antiquitin, an enzyme that catalyzes the nicotinamide adenine dinucleotide-dependent dehydrogenation of L-α-aminoadipic semialdehyde/L-Δ1-piperideine 6-carboxylate. It is a highly treatable disorder, but nevertheless it is still not certain when to consider this diagnosis and how to test for it. It is possible to identify a classical form and an atypical one of PDE associated with more than 70 mutations of ALDH7A1 gene. The typical form is characterized by the onset of seizures within the first month of life and can be treated with pyridoxine in monotherapy, as they are not responsive to traditional anticonvulsant therapy. The atypical forms are equally pyridoxine-dependent, but are characterized by a later onset of seizures, sometimes up to the age of 3 years. Several brain abnormalities have been associated with ALDH7A1 mutations. Seizure control is achieved by the administration of high-dose pyridoxine, which must be started in the patient as soon as possible. However, it has been observed that pyridoxine therapy does not prevent developmental delay in most cases; in these cases, it can be recommended and useful to supplement arginine with pyridoxine therapy associated with a dietary restriction of lysine.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-05-21T00:00:00+01:00
      DOI: 10.1055/s-0041-1728686
      Issue No: Vol. eFirst
       
  • PRRT2 Related Epilepsies: A Gene Review

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      Authors: Massimino; Carmela Rita, Portale, Laura, Sapuppo, Annamaria, Pizzo, Francesco, Sciuto, Laura, Romano, Catia, Salafia, Stefania, Falsaperla, Raffaele
      Abstract: PRRT2 encodes for proline-rich transmembrane protein 2 involved in synaptic vesicle fusion and presynaptic neurotransmitter release. Mutations in human PRRT2 have been related to paroxysmal kinesigenic dyskinesia (PKD), infantile convulsions with choreoathetosis, benign familial infantile epilepsies, and hemiplegic migraine. PRRT2 mutations cause neuronal hyperexcitability, which could be related to basal ganglia or cortical circuits dysfunction, leading to paroxysmal disorders. PRRT2 is expressed in the cerebral cortex, basal ganglia, and cerebellum. Approximately, 90% of pathogenic variants are inherited and 10% are de novo. Paroxysmal attacks in PKD are characterized by dystonia, choreoathetosis, and ballismus. In the benign familial infantile epilepsy (BFIE), seizures are usually focal with or without generalization, usually begin between 3 and 12 months of age and remit by 2 years of age. In 30% of cases of PRRT2-associated PKD, there is an association with BFIE, and this entity is referred to as PKD with infantile convulsions (PKD/IC). PRRT2 mutations are the cause of benign family childhood epilepsy and PKD/IC. On the other hand, PRRT2 mutations do not seem to correlate with other types of epilepsy. The increasing incidence of hemiplegic migraine in families with PRRT2-associated PKD or PKD/IC suggests a common disease pathway, and it is possible to assert that BFIE, paroxysmal kinesigenic dyskinesia, and PKD with IC belong to a continuous disease spectrum of PRRT2-associated diseases.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-05-21T00:00:00+01:00
      DOI: 10.1055/s-0041-1728683
      Issue No: Vol. eFirst
       
  • PCDH19-Related Epilepsies

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      Authors: Mazzurco; Marina, Pulvirenti, Giulio, Caccamo, Martina, Presti, Santiago, Soma, Rachele, Salafia, Stefania, Praticò, Elena R., Filosco, Federica, Falsaperla, Raffaele, Praticò, Andrea D.
      Abstract: Protocadherin-19 (PCDH19) is considered one of the most relevant genes related to epilepsy. To date, more than 150 mutations have been identified as causative for PCDH19-female epilepsy (also known as early infantile epileptic encephalopathy-9, EIEE9), which is characterized by early onset epilepsy, intellectual disabilities, and behavioral disturbances. More recently, mosaic-males (i.e., exhibiting the variants in less than 25% of their cells) have been described as affected by infant-onset epilepsy associated with intellectual disability, as well as compulsive or aggressive behavior and autistic features. Although little is known about the physiological role of PCDH19 protein and the pathogenic mechanisms that lead to EIEE9, many reports and clinical observation seem to suggest a relevant role of this protein in the development of cellular hyperexcitability. However, a genotype–phenotype correlation is difficult to establish. The main feature of EIEE9 consists in early onset of seizures, which generally occur in clusters lasting 1 to 5 minutes and repeating up to 10 times a day for several days. Seizures tend to present during febrile episodes, similarly to the first phases of Dravet syndrome and PCDH19 variants have been found in ∼25% of females who present with features of Dravet syndrome and testing negative for SCN1A variants. There is no “standardized” treatment for PCDH19-related epilepsy and most of the patients receiving a combination of several drugs. In this review, we focus on the latest researches on these aspects, with regard to protein expression, its known functions, and the mechanisms by which the protein acts. The clinical phenotypes related to PCDH19 mutations are also discussed.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-05-21T00:00:00+01:00
      DOI: 10.1055/s-0041-1728641
      Issue No: Vol. eFirst
       
  • DNM1 Gene and Its Related Epileptic Phenotypes

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      Authors: Motta; Milena, Consentino, Maria Chiara, Fontana, Alessandra, Sciuto, Laura, Falsaperla, Raffaele, Praticò, Elena R., Salafia, Stefania, Zanghì, Antonio, Praticò, Andrea D.
      Abstract: The phenotypic variety associated to mutations in dynamin 1 (DNM1), codifying the presynaptic protein DNM1 has been increasingly reported, mainly related to encephalopathy with intractable epilepsy; currently, it is known the phenotype related to DNM1 gene mutations is relatively homogeneous with developmental delay, hypotonia, and epilepsy characterized by infantile spasms and possible progression to Lennox-Gastaut syndrome. By examining all the papers published until 2020 (18 articles), we compared data from 30 patients (extrapolated from 5 papers) with DNM1 mutations, identifying 26 patients with de novo mutations in DNM1. Nine patients (33.3%) reported the recurrent mutation p.Arg237Trp. A usual phenotype observed comprises severe to deep developmental delay and muscular hypotonia in all patients with epilepsy beginning with infantile spasms, which often evolved into Lennox-Gastaut syndrome. Data about GTPase or central domains mutations, and existing structural modeling and functional suggest a dominant negative effect on DMN1 function. Generally genetic epilepsies consist of a wide spectrum of clinical features, unlike that, DNM1-related CNS impairment phenotype is quite uniform. In up to one third of patients it has been found variant p.Arg237Trp, which is one of the most frequent variant detected in epileptic encephalopathies. The understanding of DNM1 function opens up the chance that this gene would become a new therapeutic target for epilepsies.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-05-21T00:00:00+01:00
      DOI: 10.1055/s-0041-1727258
      Issue No: Vol. eFirst
       
  • FOXG1 Gene and Its Related Phenotypes

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      Authors: Pecora; Giulia, Sortino, Vincenzo, Brafa Musicoro, Viviana, Salomone, Giulia, Pizzo, Francesco, Costanza, Giuseppe, Falsaperla, Raffaele, Zanghì, Antonio, Praticò, Andrea D.
      Abstract: FOXG1 is an important transcriptional repressor found in cell precursor of the ventricular region and in neurons in the early stage of differentiation during the development of the nervous epithelium in the cerebrum and optical formation. Mutations involving FOXG1 gene have been described first in subjects with congenital Rett syndrome. They can cause seizure, delayed psychomotor development, language disorders, and autism. FOXG1 deletions or intragenic mutations also determinate reduction in head circumference, structural defects in the corpus callosum, abnormal movements, especially choreiform, and intellectual retardation with no speech. Patients with duplications of 14q12 present infantile spasms and have subsequent intellectual disability with autistic features, head circumference in the normal range, and regular aspect of corpus callosum. Clinical characteristics of patients with FOXG1 variants include growth deficit after birth associated with microcephaly, facial dysmorphisms, important delay with no language, deficit in social interaction like autism, sleep disorders, stereotypes, including dyskinesia, and seizures. In these patients, it is not characteristic a history of loss of acquired skills.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-05-21T00:00:00+01:00
      DOI: 10.1055/s-0041-1727270
      Issue No: Vol. eFirst
       
  • Calcium Channels Genes and Their Epilepsy Phenotypes

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      Authors: Pulvirenti; Giulio, Caccamo, Martina, Lo Bianco, Manuela, Mazzurco, Marina, Praticò, Elena R., Giallongo, Alessandro, Gangi, Gloria, Zanghì, Antonio, Falsaperla, Raffaele
      Abstract: Calcium (Ca2+) channel gene mutations play an important role in the pathogenesis of neurological episodic disorders like epilepsy. CACNA1A and CACNA1H genes are involved in the synthesis of calcium channels. Mutations in the α1A subunit of the P/Q type voltage-gated calcium channel gene (CACNA1A) located in 19p13.13, which encodes for the transmembrane pore-forming subunit of CAV2.1 voltage-dependent calcium channel, have been correlated to a large clinical spectrum of epilepsy such as idiopathic genetic epilepsy, early infantile epilepsy, and febrile seizures. Moreover, CACNA1A mutations have been demonstrated to be involved in spinocerebellar ataxia type 6, familiar hemiplegic migraine, episodic ataxia type 2, early-onset encephalopathy, and hemiconvulsion–hemiplegia epilepsy syndrome. This wide phenotype heterogeneity associated with CACNA1A mutations is correlated to different clinical and electrophysiological manifestations. CACNA1H gene, located in 16p13.3, encodes the α1H subunit of T-type calcium channel, expressing the transmembrane pore-forming subunit Cav3.2. Despite data still remain controversial, it has been identified as an important gene whose mutations seem strictly related to the pathogenesis of childhood absence epilepsy and other generalized epilepsies. The studied variants are mainly gain-of-function, hence responsible for an increase in neuronal susceptibility to seizures. CACNA1H mutations have also been associated with autism spectrum disorder and other behavior disorders. More recently, also amyotrophic lateral sclerosis has been related to CACNA1H alterations. The aim of this review, other than describe the CACNA1A and CACNA1H gene functions, is to identify mutations reported in literature and to analyze their possible correlations with specific epileptic disorders, purposing to guide an appropriate medical treatment recommendation.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-05-21T00:00:00+01:00
      DOI: 10.1055/s-0041-1728684
      Issue No: Vol. eFirst
       
  • GRIN2A and GRIN2B and Their Related Phenotypes

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      Authors: Sapuppo; Annamaria, Portale, Laura, Massimino, Carmela R., Presti, Santiago, Tardino, Lucia, Marino, Simona, Polizzi, Agata, Falsaperla, Raffaele, Praticò, Andrea D.
      Abstract: Glutamate is the most relevant excitatory neurotransmitter of the central nervous system; it binds with several receptors, including N-methyl-D-aspartate receptors (NMDARs), a subtype of ionotropic glutamate receptor that displays voltage-dependent block by Mg2+ and a high permeability to Ca2+. GRIN2A and GRIN2B genes encode the GluN2A and GluN2B subunits of the NMDARs, which play important roles in synaptogenesis, synaptic transmission, and synaptic plasticity, as well as contributing to neuronal loss and dysfunction in several neurological disorders. Recently, individuals with a range of childhood-onset drug-resistant epilepsies, such as Landau–Kleffner or Lennox–Gastaut syndrome, intellectual disability (ID), and other neurodevelopmental abnormalities have been found to carry mutations in GRIN2A and GRIN2B, with high variable expressivity in phenotype. The first one is found mainly in epilepsy-aphasia syndromes, while the second one mainly in autism, schizophrenia, and ID, such as autism spectrum disorders. Brain magnetic resonance imaging alterations are found in some patients, even if without a clear clinical correlation. At the same time, increasing data on genotype–phenotype correlation have been found, but this is still not fully demonstrated. There are no specific therapies for the treatment of correlated NMDARs epilepsy, although some evidence with memantine, an antagonist of glutamate receptor, is reported in the literature in selected cases with mutation determining a gain of function.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-05-21T00:00:00+01:00
      DOI: 10.1055/s-0041-1727146
      Issue No: Vol. eFirst
       
  • Fulminating Autoimmune Demyelination with Optic Neuropathy in a Case of
           Pediatric Cerebral Adrenoleukodystrophy: Case Report and Review of the
           Literature

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      Authors: Singhapakdi; Kanya, Sharma, Kamal, Maertens, Paul
      Abstract: X-linked adrenoleukodystrophy (ALD) is a leukodystrophy characterized not only by progressive loss of myelin in the central nervous system due to dysmyelination, but also by acute, subacute, or chronic inflammatory demyelination. This results in the phenotypic variability of cerebral ALD (cerALD), which is independent of the genotype. In this manuscript, we report a fulminant presentation with fluctuating encephalopathy and visual loss in a patient with childhood onset cerALD. Brain MRI showed symmetric confluent occipito-temporal demyelination with severe disruption of the blood–brain barrier and prechiasmal optic neuropathy. The patient's cerebral spinal fluid (CSF) demonstrated an elevated IgG index, myelin basic proteins, and oligoclonal bands. Within 48 hours of receiving immunomodulating therapy, the patient's symptoms of psychomotor slowing, visual impairment, and areflexia partially resolved. High plasma C26:0 levels and high ratios of C24/22 and C26/22 were diagnostic of ALD. It has been shown that environmental factors play an important role in the inflammatory demyelination responsible for the severe phenotypes of cerALD.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-05-21T00:00:00+01:00
      DOI: 10.1055/s-0041-1727143
      Issue No: Vol. eFirst
       
  • TBC1D24 and Its Related Epileptic Encephalopathy

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      Authors: Timpanaro; Tiziana, La Mendola, Flavia, Billone, Sebastiano, Nora, Alessandra Di, Collotta, Ausilia, Sauna, Alessandra, Salafia, Stefania, Falsaperla, Raffaele
      Abstract: TBC1D24, mapped to 16p13.3, encodes a protein containing a Tre2/Bub2/Cdc16 (TBC) domain, belonging to the super-family of Rab GTPase activating proteins (Rab-GAP). These proteins regulate various functions, including the regulation of the traffic of the vesicular membrane. Several TBC1D24 mutations have been related to autosomal recessive neurological disorders, including severe developmental encephalopathies with malignant early childhood epilepsy, benign epilepsy, epileptic encephalopathy, and a complex neurological syndrome characterized by deafness, onychodystrophy, bone and neurological degeneration. Mutations of TBC1D24 have also been reported in patients with nonsyndromic deafness with dominant or recessive inheritance. Mechanisms underlying TBC1D24-associated disorders and the functions of TBC1D24 products in the generation of such complex spectrum of diseases remain partly unclear and future studies are needed to clarify this aspect, in order to improve the management of seizures and for the prevention of complication (including death) of newly diagnosed patients affected by TBC1D24-related disorders.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-05-21T00:00:00+01:00
      DOI: 10.1055/s-0041-1728645
      Issue No: Vol. eFirst
       
  • KCNT1-Related Epilepsy: A Review

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      Authors: Venti; Valeria, Ciccia, Lina, Scalia, Bruna, Sciuto, Laura, Cimino, Carla, Marino, Simona, Praticò, Andrea D., Falsaperla, Raffaele
      Abstract: KCNT1 gene encodes the sodium-dependent potassium channel reported as a causal factor for several different epileptic disorders. The gene has been also linked with cardiac disorders and in a family to sudden unexpected death in epilepsy. KCNT1 mutations, in most cases, result in a gain of function causing a neuronal hyperpolarization with loss of inhibition. Many early-onset epileptic encephalopathies related to gain of function of KCNT1 gene have been described, most often associated with two phenotypes: malignant migrating focal seizures of infancy and familial autosomal-dominant nocturnal frontal lobe epilepsy; however, there is no clear phenotype–genotype correlation, in fact same mutations have been represented in patients with West syndrome, Ohtahara syndrome, and early myoclonic encephalopathy. Additional neurologic features include intellectual disability, psychiatric disorders, hypotonia, microcephaly, strabismus, and movement disorders. Conventional anticonvulsant, vagal stimulation, and ketogenic diet have been used in the absence of clinical benefit in individuals with KCNT1-related epilepsy; in some patients, quinidine therapy off-label has been practiced successfully. This review aims to describe the characteristics of the gene, the phenotypes related to genetic mutations with the possible genotype–phenotype correlations and the treatments proposed to date, discussing the comorbidities reported in the literature.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-05-21T00:00:00+01:00
      DOI: 10.1055/s-0041-1728688
      Issue No: Vol. eFirst
       
  • Erratum: Monogenic Epilepsies: Channelopathies, Synaptopathies,
           mTorpathies, and Otheropathies

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      Journal of Pediatric Neurology
      DOI: 10.1055/s-0041-1730329



      Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany

      Artikel in Thieme eJournals:
      Inhaltsverzeichnis     Volltext

      Journal of Pediatric Neurology ; : -2021-05-14T00:00:00+01:00
      Issue No: Vol. eFirst
       
  • Erratum: SCN2A and Its Related Epileptic Phenotypes

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      Journal of Pediatric Neurology
      DOI: 10.1055/s-0041-1730330



      Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany

      Artikel in Thieme eJournals:
      Inhaltsverzeichnis     Volltext

      Journal of Pediatric Neurology ; : -2021-05-14T00:00:00+01:00
      Issue No: Vol. eFirst
       
  • SLC25A22 and Its Related Epileptic Encephalopathies

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      Authors: Patanè; Francesca, Pasquetti, Elisa, Sullo, Federica, Tosto, Monica, Sciuto, Laura, Garozzo, Maria Teresa, Praticò, Elena R., Falsaperla, Raffaele
      Abstract: Epileptic encephalopathy is a condition in which seizures, electroencephalographic epileptiform abnormalities lead to a progressive deterioration of brain functions causing a significant psychomotor delay. One of the typical features of this heterogeneous and large group of severe disorders is the extremely early onset of seizures. The main causes of the epileptic encephalopathies include structural brain defects, inherited metabolic disorders; in this aspect, more than 100 genetic defects, including mutations in the solute carrier family 25 (SLC25A22) gene which encodes a mitochondrial glutamate carrier. To date, the main clinical phenotypes related to mutations of this gene are Ohtahara syndrome (or early infantile epileptic encephalopathy), early myoclonic encephalopathy and migrating partial seizures in infancy. In all the cases, prognosis is poor and no disease-modifying treatment is available in the present days.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-04-14T00:00:00+01:00
      DOI: 10.1055/s-0041-1728685
      Issue No: Vol. eFirst
       
  • Comparison of the Full Outline of Unresponsiveness (FOUR) Score with the
           Glasgow Coma Scale (GCS) as a Coma Assessment Scale in Pediatric Intensive
           Care

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      Authors: Misirlioglu; Merve, Yildizdas, Dincer, Ekinci, Faruk, Ozgur Horoz, Ozden, Mert, Gulen Gul
      Abstract: Rapid assessment of cerebral dysfunction is crucial for the management of patients in intensive care units. The Glasgow Coma Scale (GCS) evaluates eye, verbal, and motor responses, but is insufficient to effectively evaluate patients on mechanical ventilation, or who are unable to speak. The Full Outline of Unresponsiveness (FOUR) score includes additional information such as brainstem reflexes and respiratory status to provide a more complete clinical assessment. In this study, we aimed to compare the FOUR score with GCS in the assessment of patients with coma. This prospective study included patients between 1 month and under 18 years of age, who were hospitalized in the pediatric intensive care unit due to risk of coma or ongoing impairment of consciousness between May 2018 and June 2019. Information regarding FOUR scores, GCS values, patient demographics, duration of hospitalization, requirement for mechanical ventilation, and patient comorbidities were recorded and analyzed. Among the 80 patients included in the study, a statistically significant correlation was found between (low) GCS and FOUR scores during admission, and mortality and requirement for mechanical ventilation. Monitoring the level of consciousness is important in pediatric intensive care units and may be predictive of the course and disease outcome. Similar to the GCS, the FOUR score is a good indicator for predicting mortality and requirement for mechanical ventilation.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-04-13T00:00:00+01:00
      DOI: 10.1055/s-0041-1727186
      Issue No: Vol. eFirst
       
  • Gamma-Aminobutyric Acid Type A Receptor Genes and Their Related Epilepsies

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      Authors: Brafa Musicoro; Viviana, Sortino, Vincenzo, Pecora, Giulia, Tosto, Monica, Lo Bianco, Manuela, Soma, Rachele, Romano, Catia, Falsaperla, Raffaele, Praticò, Andrea D.
      Abstract: Gamma-aminobutyric acid type A (GABA-A) receptor subunit gene mutations, which include GABRA1, GABRB3, GABRD, and GABRG2, are often involved in several genetic epilepsy syndromes and other neuropsychiatric diseases like autism spectrum disorder, schizophrenia, and anxiety. GABA-A are ligand-gated ionic channels, and are involved firstly in the fast inhibitory synaptic transmission of the central nervous system. The GABA receptors include the ionotropic GABA-A and GABA-C receptors and the metabotropic GABA-B receptors. According to the site in which mutations occur, they cause disorders in channel opening, “lock-and-pull” receptor system functioning, and capable of causing a specific epilepsy phenotype. The aim of this article is to summarize the most recent literature findings, considering genetic mutations, clinical features, genotype/phenotype correlation, and therapy about neurodevelopment diseases correlated to GABA receptors dysfunction, in particular epilepsy. According to our findings, we conclude that further mutation analysis could permit genotype–phenotype correlation and give more information about the best efficient treatment, even if—at present—more clinical and genetic studies are necessary.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-04-13T00:00:00+01:00
      DOI: 10.1055/s-0041-1727269
      Issue No: Vol. eFirst
       
  • CDKL5 Gene: Beyond Rett Syndrome

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      Authors: Ciccia; Lina Maria, Scalia, Bruna, Venti, Valeria, Pizzo, Francesco, Pappalardo, Maria Grazia, La Mendola, Flavia Maria Consuelo, Falsaperla, Raffaele, Praticò, Andrea D.
      Abstract: CDKL5 is a gene located in the X-chromosome (Xp22) encoding a serine/threonine kinase involved in various signaling pathways, implicated in cell proliferation, axon development, dendrite growth, synapse formation, and maintenance. Mutations occurring in this gene have been associated with drug-resistant early-onset epilepsy, with multiple seizures type, and deep cognitive and motor development delay with poor or absent speech, ataxic gait or inability to walk, hand stereotypies and in a few cases decrement of head growth. Many aspects remain unclear about the CDKL5 deficiency disorders, research will be fundamental to better understand the pathogenesis of neurological damage and consequently developed more targeted and profitable therapies, as there is not, at the present, a gene-based treatment and the seizures are in most of the cases drug resistant. In this article, we summarize the actual knowledge about CDKL5 gene function and mostly the consequence given by its dysfunction, also examining the possible therapeutic approaches.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-04-13T00:00:00+01:00
      DOI: 10.1055/s-0041-1727141
      Issue No: Vol. eFirst
       
  • WDR45 Gene and Its Role in Pediatric Epilepsies

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      Authors: Filosco; Federica, Billone, Sebastiano, Collotta, Ausilia, Timpanaro, Tiziana, Tosto, Monica, Falsaperla, Raffaele, Marino, Silvia, Zanghì, Antonio, Praticò, Andrea D.
      Abstract: WD repeat domain 45 (WDR45) gene has been increasingly found in patients with developmental delay (DD) and epilepsy. Previously, WDR45 de novo mutations were reported in sporadic adult and pediatric patients presenting iron accumulation, while heterozygous mutations were associated with β-propeller protein-associated neurodegeneration (BPAN), a subtype of neurodegeneration with brain iron accumulation disorders, characterized by extrapyramidal movement disorders and abnormal accumulation of iron in the basal ganglia. Overall, people harboring WDR45 mutations have moderate to severe DD and different types of seizures. The phenotype of adult patients is characterized by extrapyramidal movement, dystonia, parkinsonism, language impairment, and involvement of the substantia nigra and in the globus pallidus at brain magnetic resonance imaging. Importantly, there are no findings of brain iron accumulation in brain in BPAN patients in the first decade of life, thus suggesting a progressive course of the disease. Comparatively, the main phenotype of pediatric patients is epilepsy with early onset, most of which present infantile spasms and arrest or regression of psychomotor development. The phenotype of patients with WDR45 mutations is variable, being different if caused by somatic mosaicism or germline mutations, and presenting with a different spectrum of manifestations in males and females. The treatment of affected individuals is symptomatic. Regarding the seizures, specific, gene-based approaches with specific antiepileptic drugs are not currently available. The early diagnosis of BPAN could be useful in some aspects, such as providing families a supportive treatment to their affected children.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-04-13T00:00:00+01:00
      DOI: 10.1055/s-0041-1727174
      Issue No: Vol. eFirst
       
  • Syntaxin Binding Protein 1 Related Epilepsies

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      Authors: Fontana; Alessandra, Consentino, Maria Chiara, Motta, Milena, Costanza, Giuseppe, Lo Bianco, Manuela, Marino, Simona, Falsaperla, Raffaele, Praticò, Andrea D.
      Abstract: Syntaxin binding protein 1 (STXBP1), commonly known as MUNC18–1, is a member of SEC1 family membrane trafficking proteins; their function consists in controlling the soluble N-ethylmaleimide-sensitive factor attachment protein receptors complex assembly, making them essentials regulators of vesicle fusion. The precise function and molecular mechanism through which Munc18–1 contributes to neurotransmitter releasing is not entirely understood, but several evidences suggest its probable role in exocytosis. In 2008, heterozygous de novo mutations in neuronal protein Munc18–1 were first referred as a cause of Ohtahara syndrome development. Currently, a wide examination of the published data proved that 3.1% of patients with severe epilepsy carry a pathogenic de novo mutation including STXBP1 and approximately 10.2% of early onset epileptic encephalopathy is due to an aberrant STXBP1 form codified by the mutated gene. STXBP1 mutations can be associated to a wide clinical heterogeneity. All affected individuals show developmental delay and approximately the 95% of cases have seizures and early onset epileptic encephalopathy, characterized by infantile spasms as the main consistent feature. Burst suppression pattern and hypsarrhythmia are the most frequent EEG anomalies. Other neuronal disorders include Rett syndrome and behavioral and movement disorders. Mild dysmorphic features have been detected in a small number of cases. No genotype–phenotype correlation has been reported. Management of STXBP1 encephalopathy requires a multidisciplinary approach, including epilepsy control and neurological rehabilitation. About 25% of patients are refractory to standard therapy. A single or combined antiepileptic drugs may be required. Several studies described vigabatrin, valproic acid, levetiracetam, topiramate, clobazam, and oxcarbazepine as effective in seizure control. Lamotrigine, zonisamide, and phenobarbital are also commonly used. To date, it remains unclear which therapy is the most effective. Severe morbidity and high mortality are inevitable consequences in some of these patients.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-04-13T00:00:00+01:00
      DOI: 10.1055/s-0041-1727259
      Issue No: Vol. eFirst
       
  • SCN1B Gene: A Close Relative to SCN1A

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      Authors: Pasquetti; Elisa, Lo Bianco, Manuela, Sullo, Federica, Patanè, Francesca, Sciuto, Laura, Polizzi, Agata, Praticò, Andrea D., Zanghì, Antonio, Falsaperla, Raffaele
      Abstract: One of the first reported genes associated with epilepsy was SCN1B, which encodes for β-subunit of voltage-gated sodium channel of excitable cells and it is critical for neuronal function in both central and peripheral nervous system. β-subunits modulate the expression levels and functional properties of sodium channels and though their immunoglobulin domains may mediate interactions between channels and other proteins. Traditionally, SCN1B mutations were associated with generalized epilepsy with febrile seizures plus, a familial epilepsy syndrome characterized by heterogeneous phenotypes including febrile seizures (FS), febrile seizures plus (FS + ), mild generalized epilepsies, and severe epileptic encephalopathies. Throughout the years, SCN1B mutations have been also associated with Dravet syndrome and, more recently, with developmental and epileptic encephalopathies, expanding the spectrum associated with this gene mutations to more severe phenotypes.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-04-13T00:00:00+01:00
      DOI: 10.1055/s-0041-1727268
      Issue No: Vol. eFirst
       
  • The Spectrum of KCNQ2- and KCNQ3-Related Epilepsy

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      Authors: Portale; Anna, Comella, Mattia, Salomone, Giulia, Di Nora, Alessandra, Marino, Lidia, Leonardi, Roberta, Praticò, Andrea D., Falsaperla, Raffaele
      Abstract: KCNQ genes encode for a family of six transmembrane domains, single pore-loop, and K+ channel α-subunits that have a wide range of physiological correlates. In the brain, KCNQ2 and KCNQ3 heteromultimers are thought to underlie the M-current which is essential in raising the threshold for firing an action potential; mutations in these genes may cause several types of infantile epilepsies. KCNQ2-related disorders represent a continuum of overlapping neonatal epileptic phenotypes that range from KCNQ2 benign familial neonatal epilepsy (BFNE), a seizure disorder that occur in children who typically have a normal psychomotor development and are inherited as an autosomal dominant trait, to KCNQ2 early-onset epileptic encephalopathy (EOEE) as the result of a de novo pathogenic variant. KCNQ3-related disorders are rarer and include BFNE, benign familial infantile epilepsy and KCNQ3-related epileptic encephalopathy with intellectual disability with or without seizures and/or cortical visual impairment. For both KCNQ2- and KCNQ3-related disorders, it is possible to use several drugs for different classes of mutations (i.e., gain of function vs. loss of function), and usually their effects vary in relation to the clinical presentation and the phenotype of the patient. However, KCNQ2-EOEE patients have a worse response to treatment than KCNQ2-BFNE patients and usually become drug resistant with multiple daily seizures.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-04-13T00:00:00+01:00
      DOI: 10.1055/s-0041-1727099
      Issue No: Vol. eFirst
       
  • Monogenic Epilepsies: Channelopathies, Synaptopathies, mTorpathies, and
           Otheropathies

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      Authors: Praticò; Andrea D., Falsaperla, Raffaele, Polizzi, Agata, Ruggieri, Martino
      Abstract: Epilepsy has been historically defined as the recurrence of two or more seizures, together with typical electroencephalogram (EEG) changes, and significant comorbidities, including cardiac and autonomic changes, injuries, intellectual disability, permanent brain damage, and higher mortality risk. Epilepsy may be the consequence of several causes, including genetic anomalies, structural brain malformations, hypoxic–ischemic encephalopathy, brain tumors, drugs, and all contributing factors to the imbalance between excitatory and inhibitory neurons and modulatory interneurons which in turn provoke abnormal, simultaneous electric discharge(s) involving part, or all the brain. In the pregenetic, pregenomic era, in most cases, the exact cause of such neuronal/interneuronal disequilibrium remained unknown and the term “idiopathic epilepsy” was used to define all the epilepsies without cause. At the same time, some specific epileptic syndromes were indicated by the eponym of the first physician who originally described the condition (e.g., the West syndrome, Dravet syndrome, Ohtahara syndrome, and Lennox–Gastaut syndrome) or by some characteristic clinical features (e.g., nocturnal frontal lobe epilepsy, absence epilepsy, and epilepsy and mental retardation limited to females). In many of these occurrences, the distinct epileptic syndrome was defined mainly by its most relevant clinical feature (e.g., seizure semiology), associated comorbidities, and EEGs patterns. Since the identification of the first epilepsy-associated gene (i.e., CHRNA4 gene: cholinergic receptor neuronal nicotinic α polypeptide 4), one of the genes responsible for autosomal dominant nocturnal frontal lobe epilepsy (currently known as sleep-related hypermotor epilepsy) in 1995, the field of epilepsy and the history of epilepsy gene discoveries have gone through at least three different stages as follows: (1) an early stage of relentless gene discovery in monogenic familial epilepsy syndromes; (2) a relatively quiescent and disappointing period characterized by largely negative genome-wide association candidate gene studies; and (3) a genome-wide era in which large-scale molecular genetic studies have led to the identification of several novel epilepsy genes, especially in sporadic forms of epilepsy. As of 2021, more than 150 epilepsy-associated genes or loci are listed in the Online Mendelian Inheritance in Man database.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-04-13T00:00:00+01:00
      DOI: 10.1055/s-0041-1727098
      Issue No: Vol. eFirst
       
  • The Spectrum of DEPDC5-Related Epilepsy

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      Authors: Salomone; Giulia, Comella, Mattia, Portale, Anna, Pecora, Giulia, Costanza, Giuseppe, Lo Bianco, Manuela, Sciuto, Sarah, Praticò, Elena R., Falsaperla, Raffaele
      Abstract: Disheveled EGL-10 and pleckstrin domain-containing protein 5 (DEPDC5) is a key member of the GAP activity toward rags complex 1 complex, which inhibits the mammalian target of rapamycin complex 1 (mTORC1) pathway. DEPDC5 loss-of-function mutations lead to an aberrant activation of the mTOR signaling. At neuronal level, the increased mTOR cascade causes the generation of epileptogenic dysplastic neuronal circuits and it is often associated with malformation of cortical development. The DEPDC5 phenotypic spectrum ranges from sporadic early-onset epilepsies with poor neurodevelopmental outcomes to familial focal epilepsies and sudden unexpected death in epilepsy; a high rate of inter- and intrafamilial variability has been reported. To date, clear genotype–phenotype correlations have not been proven. More studies are required to elucidate the significance of likely pathogenic/variants of uncertain significance. The pursuit of a molecular targeted antiepileptic therapy is a future challenge.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-04-13T00:00:00+01:00
      DOI: 10.1055/s-0041-1727139
      Issue No: Vol. eFirst
       
  • MECP2-Related Disorders and Epilepsy Phenotypes

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      Authors: Sauna; Alessandra, Sciuto, Laura, Criscione, Roberta, Messina, Giulia, Presti, Santiago, Soma, Rachele, Oliva, Claudia, Salafia, Stefania, Falsaperla, Raffaele
      Abstract: MECP2 (methyl-CpG binding protein-2) gene, located on chromosome Xq28, encodes for a protein particularly abundant in the brain that is required for maturation of astrocytes and neurons and is developmentally regulated. A defective homeostasis of MECP2 expression, either by haploinsufficiency or overexpression, leads to a neurodevelopmental phenotype. As MECP2 is located on chromosome X, the clinical presentation varies in males and females ranging from mild learning disabilities to severe encephalopathies and early death. Typical Rett syndrome (RTT), the most frequent phenotype associated with MECP2 mutations, primarily affects girls and it was previously thought to be lethal in males; however, MECP2 duplication syndrome, resulting from a duplication of the Xq28 region including MECP2, leads to a severe neurodevelopmental disorder in males. RTT and MECP2 duplication syndrome share overlapping clinical phenotypes including intellectual disabilities, motor deficits, hypotonia, progressive spasticity, and epilepsy. In this manuscript we reviewed literature on epilepsy related to MECP2 disorders, focusing on clinical presentation, genotype–phenotype correlation, and treatment.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-04-13T00:00:00+01:00
      DOI: 10.1055/s-0041-1728643
      Issue No: Vol. eFirst
       
  • Aristaless-Related Homeobox (ARX): Epilepsy Phenotypes beyond
           Lissencephaly and Brain Malformations

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      Authors: Scalia; Bruna, Venti, Valeria, Ciccia, Lina M., Criscione, Roberta, Lo Bianco, Manuela, Sciuto, Laura, Falsaperla, Raffaele, Zanghì, Antonio, Praticò, Andrea D.
      Abstract: The Aristaless-related homeobox (ARX) transcription factor is involved in the development of GABAergic and cholinergic neurons in the forebrain. ARX mutations have been associated with a wide spectrum of neurodevelopmental disorders in humans and are responsible for both malformation (in particular lissencephaly) and nonmalformation complex phenotypes. The epilepsy phenotypes related to ARX mutations are West syndrome and X-linked infantile spasms, X-linked myoclonic epilepsy with spasticity and intellectual development and Ohtahara and early infantile epileptic encephalopathy syndrome, which are related in most of the cases to intellectual disability and are often drug resistant. In this article, we shortly reviewed current knowledge of the function of ARX with a particular attention on its consequences in the development of epilepsy during early childhood.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-04-13T00:00:00+01:00
      DOI: 10.1055/s-0041-1727140
      Issue No: Vol. eFirst
       
  • SCN1A and Its Related Epileptic Phenotypes

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      Authors: Sullo; Federica, Pasquetti, Elisa, Patanè, Francesca, Lo Bianco, Manuela, Marino, Simona D., Polizzi, Agata, Falsaperla, Raffaele, Ruggieri, Martino, Zanghì, Antonio, Praticò, Andrea D.
      Abstract: Epilepsy is one of the most common neurological disorders, with a lifetime incidence of 1 in 26. Approximately two-thirds of epilepsy has a substantial genetic component in its etiology. As a result, simultaneous screening for mutations in multiple genes and performing whole exome sequencing (WES) are becoming very frequent in the clinical evaluation of children with epilepsy. In this setting, mutations in voltage-gated sodium channel (SCN) α-subunit genes are the most commonly identified cause of epilepsy, with sodium channel genes (i.e., SCN1A, SCN2A, SCN8A) being the most frequently identified causative genes. SCN1A mutations result in a wide spectrum of epilepsy phenotypes ranging from simple febrile seizures to Dravet syndrome, a severe epileptic encephalopathy. In case of mutation of SCN1A, it is also possible to observe behavioral alterations, such as impulsivity, inattentiveness, and distractibility, which can be framed in an attention deficit hyperactivity disorder (ADHD) like phenotype. Despite more than 1,200 SCN1A mutations being reported, it is not possible to assess a clear phenotype–genotype correlations. Treatment remains a challenge and seizure control is often partial and transitory.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-04-13T00:00:00+01:00
      DOI: 10.1055/s-0041-1727260
      Issue No: Vol. eFirst
       
  • Vasodilator-Stimulated Phosphoprotein to Monitor Clopidogrel Posology in a
           7-Year-Old Child Stented for a Post-Traumatic Intracranial Internal
           Carotid Artery Aneurysm

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      Authors: Hess; Valentin, Zhu, François, Miguel, Justine, Girard, Florent, Toussaint, Marie, Klein, Olivier, Anxionnat, René, Wiedemann, Arnaud
      Abstract: Many pediatric medical protocols or drug posology like biantiplatelet therapy are extrapolated from adult care. This association could be indicated in specific pediatric situations such as ischemic stroke, some cardiac conditions, or to control post stent thrombosis/stenosis. If acetylsalicylic acid is commonly used, few data are available about optimal management of clopidogrel in children. We describe the case of a 7-year-old girl admitted to pediatric intensive care unit who undergoes a transitory hemiparesis after a bicycle accident. Brain magnetic resonance imaging reveals a subarachnoid hemorrhage and a wide right Sylvian arachnoid cyst. Hemorrhage predominated at the level of the optochiasmatic cistern, close to the right internal carotid artery. At the same level, angiography revealed a small aneurysm of the internal carotid artery supposed to be a postfalse traumatic aneurysm. The deployment treated this aneurysm of a flow diverter. The treatment was performed under continuous systemic heparin therapy associated with intravenous acetylsalicylic acid, and Clopidogrel was administered immediately after the procedure. An oral bi antiplatelet treatment was initiated the day 2 with acetylsalicylic acid and clopidogrel (1 mg/kg/day). To monitor clopidogrel posology, a vasodilator-stimulated phosphoprotein [VASP]) was performed. The final VASP assay result was 20% for a clopidogrel posology at 0.5 mg/kg/day. Blood pressure and neurological examination were normal during all the hospitalization. VASP assay can be used in children to define the optimal posology of clopidogrel. Further studies are required to determine an optimal initial posology.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-04-12T00:00:00+01:00
      DOI: 10.1055/s-0041-1726456
      Issue No: Vol. eFirst
       
  • Value of Magnetic Resonance Spectroscopy for Diagnosis of Creatine
           Deficiency Syndrome

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      Authors: Şimşek; Sadullah, Hattapoğlu, Salih, Ekici, Faysal
      Abstract: Creatine deficiency syndromes are congenital metabolic diseases characterized by decreased cerebral creatine levels as a result of disorders in creatine synthesis and transport. Therefore, magnetic resonance spectroscopy is a valuable tool for diagnosis. This disease can be explained by congenital disorders occurring in three forms at different stages of the creatine metabolic pathway. Two of disorders arise autosomal recessively in creatine biosynthesis, arginine-glycine amidinotransferase, and guanidinoacetate methyltransferase enzyme deficiency. The third disorder occurs as a result of an SLC6A8 variant in the form of creatine carrier protein deficiency. In this article, a patient with SLC6A8 carrier deficiency is presented.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-03-27T00:00:00+0100
      DOI: 10.1055/s-0041-1726311
      Issue No: Vol. eFirst
       
  • SCN2A and Its Related Epileptic Phenotypes

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      Authors: Praticò; Andrea D., Giallongo, Alessandro, Arrabito, Marta, D'Amico, Silvia, Gauci, Maria Cristina, Lombardo, Giulia, Polizzi, Agata, Falsaperla, Raffaele, Ruggieri, Martino
      Abstract: Epilepsies due to SCN2A mutations can present with a broad range of phenotypes that are still not fully understood. Clinical characteristics of SNC2A-related epilepsy may vary from neonatal benign epilepsy to early-onset epileptic encephalopathy, including Ohtahara syndrome and West syndrome, and epileptic encephalopathies occurring at later ages (usually within the first 10 years of life). Some patient may present with intellectual disability and/or autism or movement disorders and without epilepsy. The heterogeneity of the phenotypes associated to such genetic mutations does not always allow the clinician to address his suspect on this gene. For this reason, diagnosis is usually made after a multiple gene panel examination through next generation sequencing (NGS) or after whole exome sequencing (WES) or whole genome sequencing (WGS). Subsequently, confirmation by Sanger sequencing can be obtained. Mutations in SCN2A are inherited as an autosomal dominant trait. Most individuals diagnosed with SCN2A–benign familial neonatal-infantile seizures (BFNIS) have an affected parent; however, hypothetically, a child may present SCN2A-BNFNIS as the result of a de novo pathogenic variant. Almost all individuals with SCN2A and severe epileptic encephalopathies have a de novo pathogenic variant. SNC2A-related epilepsies have not shown a clear genotype–phenotype correlation; in some cases, a same variant may lead to different presentations even within the same family and this could be due to other genetic factors or to environmental causes. There is no “standardized” treatment for SCN2A-related epilepsy, as it varies in relation to the clinical presentation and the phenotype of the patient, according to its own gene mutation. Treatment is based mainly on antiepileptic drugs, which include classic wide-spectrum drugs, such as valproic acid, levetiracetam, and lamotrigine. However, specific agents, which act directly modulating the sodium channels activity (phenytoin, carbamazepine, oxcarbamazepine, lamotrigine, and zonisamide), have shown positive result, as other sodium channel blockers (lidocaine and mexiletine) or even other drugs with different targets (phenobarbital).
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-03-27T00:00:00+0100
      DOI: 10.1055/s-0041-1727097
      Issue No: Vol. eFirst
       
  • Effectiveness of Robot-Assisted Gait Training on Functional Skills in
           Children with Cerebral Palsy

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      Authors: Yaşar; Burak, Atıcı, Emine, Razaei, Derya Azim, Saldıran, Tülay Çevik
      Abstract: This study was aimed to investigate the effects of robot-assisted gait training (RAGT) on motor functions, spasticity status, balance, and functionality in children with cerebral palsy (CP). A total of 26 patients who were diagnosed with CP (diplegic, with gross motor function classification system [GMFCS] levels of 2–5) and who regularly participated in a rehabilitation program were recruited in the study after obtaining approval from their parents. The patients were randomly assigned to two groups. Group 1 (n = 13) received conventional physical therapy (65 minutes, 2 days/week × 8) and group 2 (n = 13) received 25 minutes of RAGT (RoboGait) in addition to conventional therapy (CT; 40 minutes, 2 days/week × 8). GMFCS was used to evaluate motor functions and the Modified Ashworth Scale was used to evaluate spasticity. The pediatric Berg balance scale, pediatric functional independence measure, and timed up and go tests were employed to assess balance and functional status. The evaluations were performed at baseline and after 8 weeks of therapy. Both rehabilitation methods led to a statistically significant decrease in spasticity (p  0.05). Both groups exhibited significant improvements in functional independence, balance, and performance at the end of therapy (p  0.05). The results of this study show that addition of RAGT to CT for 8 weeks is not superior to CT alone in children with CP.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-03-22T00:00:00+0100
      DOI: 10.1055/s-0041-1725128
      Issue No: Vol. eFirst
       
  • Sporadic Hemiplegic Migraine Type 1 and Congenital Ataxia due to a Single
           Amino Acid Deletion (ΔF1502) in CACNA1A: A Challenging Diagnosis

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      Authors: Albamonte; Emilio, Barp, Andrea, Duga, Valentina, Carraro, Elena, Passarini, Alice, Bergamoni, Stefania, Maggi, Lorenzo, Sansone, Valeria Ada
      Abstract: Mutations in the CACNA1A gene have been classically related to three neurologic disorders: hemiplegic migraine type 1 (both familiar and sporadic FHM1/SHM1), episodic ataxia type 2 (EA2), and spinocerebellar ataxia type 6 (SCA6). More recently, pathogenic variants in CACNA1A have been recognized as causative of an early-onset cerebellar syndrome consistent with the definition of congenital ataxia (CA), variably associated with paroxysmal symptoms. Early recognition of congenital ataxia is challenging because the presenting symptoms, such as hypotonia, weak deep tendon reflexes, and delayed motor milestones, are unspecific while clear signs of a cerebellar syndrome which are usually not seen before the second or third year. Here, we report on a case of nonepisodic ataxia of congenital onset and severe SHM1 where the diagnosis of congenital ataxia was made retrospectively after the identification of the ΔF1502 pathogenic variant in CACNA1A by an hemiplegic migraine multigene panel, conducted for the onset of hemiplegic migraine attacks associated with hemispheric swelling. A significant reduction in migraine attacks frequency was achieved with acetazolamide.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-03-16T00:00:00+0100
      DOI: 10.1055/s-0041-1725984
      Issue No: Vol. eFirst
       
  • Acute Paradoxical Herniation: A Case Report

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      Authors: Denny; Vanessa, Shalev, Davina, Dastgir, Jahannaz, Johnson, Erin, Escobar, Maria, Bernardita Gamallo, Ma, Wynne, Peter, Fried, Arno
      Abstract: Decompressive craniectomy is used to relieve acute increased intracranial pressure (ICP) when medical therapy has failed. Paradoxical herniation is a rare complication that occurs when the pressure of the intracranial contents falls abnormally below the atmospheric pressure. Symptoms often include neurological deficits, the etiology of which is often mistaken for elevated ICP. This diagnosis requires quick recognition, and treatment requires a change from ICP reduction therapies to those that increase the ICP, and ultimately cranioplasty.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-03-16T00:00:00+0100
      DOI: 10.1055/s-0041-1725983
      Issue No: Vol. eFirst
       
  • Novel Presentation of Pediatric Inflammatory Multisystem Syndrome
           Temporally Associated with COVID-19

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      Authors: Thomas; Arun, Hiremath, Sagar, Baju, MM
      Abstract: Pediatric inflammatory multisystem syndrome temporally associated with coronavirus disease 2019 (COVID-19) is an emerging rare disease reported in children 4 to 6 weeks after a usually asymptomatic COVID-19 infection. Though it usually presents as a Kawasaki-like illness or toxic shock syndrome, other multisystem presentations have been reported. Presentation as hemiplegia, however, is rare. Here, we describe a child with acute hemiplegia and rapidly progressive shock, who responded dramatically to steroids and intravenous immunoglobulin and experienced a full recovery. By reporting this case, we wish to add to the literature this atypical presentation of this novel disease, and highlight the importance of quickly diagnosing and treating this life-threatening disease.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-03-16T00:00:00+0100
      DOI: 10.1055/s-0041-1725982
      Issue No: Vol. eFirst
       
  • Modified Glasgow Coma Scale and the Alert Verbal Painful Unresponsive
           Scale for Assessing the Level of Consciousness in Pediatric Critical Care
           Patients—A Comparative Study

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      Authors: Chaudhary; Richa, Nagula, Karthikeya, Taksande, Amar
      Abstract: Altered consciousness is a common problem encountered in the pediatric emergency department. Modified Glasgow coma scale (MGCS) has been widely used in pediatric intensive care units (PICUs) for assessing the level of consciousness in children with various illnesses. To compare utility of alert verbal painful unresponsive (AVPU) scale and MGCS for assessing level of consciousness of critically ill patients admitted to PICU. A prospective observational study was conducted at Acharya Vinoba Bhave Rural Hospital in Maharashtra, India on children above the age of 30 days admitted to the PICU from September 2018 to August 2019, fulfilling the inclusion criteria, after obtaining informed consent from the parents. Level of consciousness of the enrolled patients was assessed using the AVPU scale and MGCS. One-way analysis of variance technique was used for data analysis. A total of 74 children were included in the study. A good correlation was observed between the two scales and mean MGCS score of 13.8 (13–15), 11.3 (11–12), 8.09 (7–9), and 3 corresponded to A, V, P, and U, respectively. AVPU scale was comparable to MGCS in assessing level of consciousness in children admitted to PICU. AVPU can be used for initial evaluation of level of consciousness in children presenting with altered consciousness. More detailed MGCS can be used to assess the improvement over time and to decide further treatment strategy.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-03-16T00:00:00+0100
      DOI: 10.1055/s-0041-1725981
      Issue No: Vol. eFirst
       
  • Cognitive Deficits in Pediatric Craniopharyngioma: An Updated Review

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      Authors: Al-Mirza; Abdulrahman, Al-Taei, Omar, Al-Saadi, Tariq
      Abstract: Craniopharyngiomas (CP) are brain tumors that often occur in children and adolescent that results in many neurological and endocrinological disorders. The aim of this systematic review is to provide updated version of studies used to formalize standard tests used for cognitive impairment in pediatric patients with craniopharyngioma. A systematic review was conducted in PubMed, EBSCO, ProQuest, Science Direct, Wiley Online, and Springer to identify studies assessing cognitive impairment in pediatric patients with craniopharyngioma. Academic and learning dysfunctions were reported in seven studies among 41 of 178 patients (23%). Visual–spatial deficits were reported in six studies. Speech and verbal dysfunctions were reported in three studies. Memory deficits were reported in eight studies among 61 of 197 patients (31%). Motor dysfunctions were reported in five studies. Sleep related issues were reported in four studies among 33 of 70 patients (47.1%). Patients with treated pediatric CP demonstrate a high incidence of neurological deficits including cognitive dysfunctions. Academic and learning dysfunctions, visual–spatial deficits, speech and verbal dysfunctions, memory deficits, and sleep-related issues were the most commonly reported cognitive deficits in the present study.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-03-16T00:00:00+0100
      DOI: 10.1055/s-0041-1726088
      Issue No: Vol. eFirst
       
  • Acute Fulminant Cerebral Edema: A Case Series at a Large Pediatric
           Tertiary Center

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      Authors: Hardy; Duriel, Gentile, Carlyn Patterson, Beslow, Lauren A., Santi, Mariarita, Agarwal, Sonika
      Abstract: Acute fulminant cerebral edema is a poorly understood but serious neurologic condition resulting in profound neurologic disability or mortality. Here we present a case series of four children that presented to our institution with new neurologic dysfunction and neuroimaging evidence of cerebral edema. Ages ranged from 2 to 7 years with the most common presenting features being altered mental status, vomiting, and/or seizure. Two patients had normal head computed tomography, but follow-up imaging performed within 15 hours demonstrated fulminant edema. One patient was positive for influenza, and one had neuropathology consistent with acute hemorrhagic leukoencephalitis. Two had no identified cause. Treatments included broad-spectrum antibiotics and acyclovir, hyperosmolar agents, intravenous steroids, and decompressive craniectomy. Only one patient survived. Acute encephalopathy complicated by fulminant cerebral edema is a rapidly evolving and often fatal neurologic condition. Early identification with neuroimaging and intervention may improve outcomes. Repeat neuroimaging should be considered if initial imaging is normal but there is persistent or progressive unexplained encephalopathy. Further studies are required to determine optimal diagnostic and management strategies.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-02-19T00:00:00+0100
      DOI: 10.1055/s-0041-1724099
      Issue No: Vol. eFirst
       
  • A Case of Prenatally Diagnosed Periventricular Nodular Heterotopia in a
           Surviving Male Patient with FLNA Mutation

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      Authors: Tencer; Jaclyn, Virupakshaiah, Akash, Campbell, Ian M, Zackai, Elaine H., Zarnow, Deborah, Agarwal, Sonika
      Abstract: FLNA is a gene on the X chromosome that encodes Filamin A, a widely expressed protein crucial for forming the cell cytoskeleton and mediating cell signaling. Loss-of-function mutations have been associated with periventricular nodular heterotopia (PVNH) with associated epilepsy and intellectual deficits, as well as cardiovascular disease, connective tissue disorders, pulmonary disease, bleeding diathesis, and gastrointestinal disease. Alternatively, gain-of-function mutations have been described with otopalatodigital spectrum disorders.The loss-of-function variants of FLNA associated with PVNH have historically been considered lethal in males, often prenatally or by the first year of life. However, more surviving males with FLNA variants are being described. Most of the surviving males have missense or distal truncating mutations or a degree of mosaicism. Others are thought to have splice site mutations or in-frame exon skipping leading to production of some degree of functional Filamin A as possible mechanisms of survival.Here, we present a case of a 20-month-old small but developmentally appropriate and healthy male infant who was prenatally diagnosed with PVNH, and postnatally found to have a nonsense variant of the FLNA gene. This mutation has not been previously clinically described or published to our knowledge.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-02-19T00:00:00+0100
      DOI: 10.1055/s-0041-1725017
      Issue No: Vol. eFirst
       
  • The Effects of Virtual Reality on Upper Extremity in Patients with
           Obstetric Brachial Plexus Injury

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      Authors: Karas; Havva Ezgi, Atıcı, Emine, Aydın, Gamze, Demirsöz, Mert
      Abstract: The present study aimed to examine the effects of playing Nintendo Wii games on upper extremity functions compared with conventional physiotherapy, in children with obstetric brachial plexus injury (OBPI). Twenty-two patients with brachial plexus injuries were enrolled. The patients were divided into two groups by simple randomization. The control group (conventional physiotherapy group [CTG]: n = 11) received conventional physiotherapy for 6 weeks (40 minutes per day, for 4 days per week). The study group, called Nintendo Wii group (NWG; n = 11), received conventional physiotherapy as well as tennis, baseball, and boxing games with Nintendo Wii on days when there was no physical therapy. The upper extremity range of motion (ROM) was evaluated using a digital goniometer, motor function was assessed using the Active Movement Scale (AMS), and shoulder functions were assessed with the Mallet Scoring System (MSS). Virtual reality treatment had a positive effect on shoulder flexion, forearm pronation, wrist flexion, ROM, and functionality (p 
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-02-19T00:00:00+0100
      DOI: 10.1055/s-0041-1724100
      Issue No: Vol. eFirst
       
  • Migrating Lateral Ventricle Choroid Plexus Cyst into the Fourth Ventricle
           Causing Acute Hydrocephalus

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      Authors: Carter; Lacey M., Cornwell, Benjamin, Gross, Naina L.
      Abstract: Choroid plexus cysts consist of abnormal folds of the choroid plexus that typically resolve prior to birth. Rarely, these cysts persist and may cause outflow obstruction of cerebrospinal fluid. We present a 5-month-old male born term who presented with lethargy, vomiting, and a bulging anterior fontanelle. Magnetic resonance imaging showed one large choroid plexus cyst had migrated from the right lateral ventricle through the third ventricle and cerebral aqueduct into the fourth ventricle causing outflow obstruction. The cyst was attached to the lateral ventricle choroid plexus by a pedicle. The cyst was endoscopically retrieved from the fourth ventricle intact and then fenestrated and coagulated along with several other smaller cysts. Histologic examination confirmed the mass was a choroid plexus cyst. The patient did well after surgery and did not require any cerebrospinal fluid diversion. Nine months after surgery, the patient continued to thrive with no neurological deficits. This case is the first we have found in the literature of a lateral ventricular choroid plexus cyst migrating into the fourth ventricle and the youngest of any migrating choroid plexus cyst. Only three other cases of a migrating choroid plexus cyst have been documented and those only migrated into the third ventricle. New imaging advances are making these cysts easier to identify, but may still be missed on routine sequences. High clinical suspicion for these cysts is necessary for correct treatment of this possible cause of hydrocephalus.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-02-17T00:00:00+0100
      DOI: 10.1055/s-0041-1723760
      Issue No: Vol. eFirst
       
  • Acute Ischemic Stroke in a 10-Month-Old Baby Recovered With Aspirin

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      Authors: Hosseini; Seyed A., Gharib, Mohammad H., Mirheidari, Seyed B., Ghanbarzade, Bahar, Hosseini, Parnian S.
      Abstract: Acute ischemic stroke is rare in children and often brings enduring and permanent morbidity in pediatric population. While there are numerous recommendations for initial treatment, evidence on effectiveness of different therapies among children is limited. Here, we describe a 10-month-old boy who presented with fever, restlessness, seizure and postictal left limb weakness. Examination revealed left hemiplegia and hemiparesthesia. Computed tomography (CT) head showed loss of gray–white matter distinction with diffuse hypodensity in the right temporoparietal lobes and right caudate nucleus. Magnetic resonance imaging (MRI) brain demonstrated diffusion restriction in favor of acute ischemic stroke in the right middle cerebral artery (MCA) territory. Brain MR angiography (MRA) demonstrated complete occlusion of proximal aspect of M1 segment of right MCA. Genetic testing determined a homozygous 4G/4G polymorphism of the PAI-1 gene. Antiplatelet therapy was started after diagnosis and continued for 8 days with antibiotic therapy. Stroke in children and infants is an infrequent condition associated with substantial morbidity and mortality that needs clinicians' care. This case highlights the significance of awareness about stroke in children and emphasizes on further research to compile evidence-based guidelines for acute stroke therapy in children.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-02-17T00:00:00+0100
      DOI: 10.1055/s-0041-1722928
      Issue No: Vol. eFirst
       
  • PCDH12-Related Movement Disorder

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      Authors: Reddy; Chaithanya, Paria, Pradip, Bhanudeep, Singanamalla, Bhatia, Vikas, Saini, Arushi G.
      Abstract: Protocadherin 12 (PCDH12) is a member of a nonclustered group of cell surface proteins. Mutations in the PCDH12 gene can cause varied phenotypes ranging from epilepsy and movement disorders to congenital malformations and calcifications in neuroimaging. We discuss here a 14-year-old boy with a movement disorder that mimicked dyskinetic cerebral palsy in the outpatient department; however, exome sequencing revealed a homozygous premature stop codon in exon 1 of the PCDH12(−) gene. The case highlights the importance of careful clinical examination to look for the features that do not match an assigned neurological syndrome and the need for follow-up neuroimaging to look for any progressive changes in all cases of unexplained movement disorder and intellectual impairment.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-02-17T00:00:00+0100
      DOI: 10.1055/s-0040-1722619
      Issue No: Vol. eFirst
       
  • Pediatric Reversible Cerebral Vasoconstriction Syndrome: Two Unique Cases
           with a Review of all Reported Children

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      Authors: Desai; Neelu, Badheka, Rahul, Shah, Nitin, Udani, Vrajesh
      Abstract: Reversible cerebral vasoconstriction syndrome (RCVS) has been well described in adults, but pediatric cases are yet under recognized. We describe two children with RCVS and review similar already published pediatric cases. The first patient was a 10-year-old girl who presented with severe headaches and seizures 3 days after blood transfusion. Brain magnetic resonance imaging (MRI) showed changes compatible with posterior reversible encephalopathy syndrome and subarachnoid hemorrhage. Magnetic resonance angiogram showed diffuse vasoconstriction of multiple cerebral arteries. The second patient was a 9-year-old boy who presented with severe thunderclap headaches. Brain MRI showed isolated intraventricular hemorrhage. Computed tomography/MR angiogram and digital subtraction angiogram were normal. A week later, he developed focal neurological deficits. Repeated MR angiogram showed diffuse vasospasm of multiple intracranial arteries. Both children recovered completely. A clinico-radiological review of previously reported childhood RCVS is provided.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-02-11T00:00:00+0100
      DOI: 10.1055/s-0041-1722959
      Issue No: Vol. eFirst
       
  • Purely Intraventricular Desmoplastic Infantile Astrocytoma

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      Authors: Nicoletti; Giovanni Federico, Umana, Giuseppe Emmanuele, Riolo, Carmelo, Magro, Gaetano, Bartoloni, Giovanni, Scalia, Gianluca
      Abstract: Desmoplastic infantile astrocytomas (DIAs) are rare pediatric tumors characterized by superficial brain cortex involvement, along with the meninges of the supratentorial compartment, and are classified as grade I neoplasms according to the 2016 World Health Organization. A 5-year-old female patient was admitted to our unit with abnormal decorticate posturing, bilateral mydriasis with weak pupillary light reflex, and brisk lower limbs reflexes. Her medical history was unremarkable. Magnetic resonance imaging of the brain revealed a massive lesion with bilateral intraventricular growth mainly prevailing on the left and involving the ipsilateral foramen of Monro. After external ventricular drainage positioning, Dandy's transfrontal transcortical approach to the left lateral ventricle, a meticulous ependymal microsurgical dissection of the lesion was performed, resulting in an excision of the cystic component of the left lateral ventricle. A gross total removal of the lesion was performed with an en bloc resection of the deeper cystic part. Thirty days after surgery, the patient presented with fluent speech, conserved axial, and extremity sensorimotor functions, except a mild central facial paresis which progressively improved. To the best of our knowledge, this is the first case of DIA characterized by purely intraventricular growth. Tumor recurrence, although considered rare, represents an unpredictable event. Therefore, an adequate follow-up must be reserved for each patient.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-02-11T00:00:00+0100
      DOI: 10.1055/s-0041-1723755
      Issue No: Vol. eFirst
       
  • The Association between Serum Sodium Levels and Febrile Seizures
           Recurrence: Is the Degree of Hyponatremia a Risk Factor'

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      Authors: Alp; Esma Keleş, Elmacı, Ahmet Midhat
      Abstract: Febrile seizures are common disorders in childhood. We evaluated the serum electrolyte levels and the associated factors in children with single and recurrent febrile seizures in 24 hours period of hospitalization. The medical records of children who were clinically diagnosed with febrile seizures and hospitalized were retrospectively revealed and analyzed. Data were collected for children aged 1 to 6 years including demographic parameters and serum electrolyte levels. A total of 244 children were enrolled in the study in which 209 were diagnosed with single febrile seizures and 35 of them with recurrent febrile seizures. Serum sodium levels were significantly lower in children with recurrent febrile seizure (138.5 ± 2.38 and 134.2 ± 3.55, p 
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-02-11T00:00:00+0100
      DOI: 10.1055/s-0041-1722851
      Issue No: Vol. eFirst
       
  • Plasma Exchange in Refractory Acute Disseminated Encephalomyelitis
           Associated with COVID-19: the Technical Challenges in a Developing Country
           

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      Authors: Raut; Sumantra Kumar, Sarkar, Mihir, Khemka, Arpita, Datta, Kalpana, Nandi, Mousumi, Biswas, Durba, Sutar, Dipankar, Banerjee, Arundhati
      Abstract: Evaluation of acquired demyelinating syndrome (ADS) without diagnostic biomarkers results in diagnostic and therapeutic challenges in pediatric population. Immune-mediated ADS of childhood responds well to steroid and intravenous immunoglobulin (IVIg) and in refractory cases with plasma exchange. Novel coronavirus disease 2019 (COVID-19) coinfection in such cases imposes technical challenges in management. An 11-year-old girl with quadriparesis and loss of vision and a magnetic resonance imaging (MRI) brain showing acute demyelinating encephalomyelitis (ADEM) and cerebrospinal fluid examination being noncontributory responded well with plasma exchange after failing steroid and IVIg is described. Coinfection with COVID-19 mandating personal protection in a temperate country imposed technical challenges in her management.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-02-08T00:00:00+0100
      DOI: 10.1055/s-0041-1722927
      Issue No: Vol. eFirst
       
  • A Variant in SLC25A4 Leads to Mitochondrial DNA-Depletion Syndrome-12A
           Causing Neonatal Hypotonia and Hypoventilation

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      Authors: Sanghvi; Kishore Pratap, Bajaj, Shruti, Mirani, Sonal
      Abstract: Congenital hypotonia and hypoventilation is a rare association. We report a rare case of a female newborn with poor respiratory drive, ventilator dependency, severe hypotonia, cardiomyopathy, and premature death. Clinical-exome-sequencing revealed SLC25A4-related mitochondrial deoxyribonucleic acid (DNA) depletion syndrome-12A (cardiomyopathic type). This syndrome is apparent at birth and carries a poor prognosis.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-02-02T00:00:00+0100
      DOI: 10.1055/s-0041-1722954
      Issue No: Vol. eFirst
       
  • Cost Effectiveness of Whole Exome Sequencing for Children with
           Developmental Delay in a Developing Country: A Study from Jordan

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      Authors: Masri; Amira, Hamamy, Hanan
      Abstract: This retrospective study was aiming to determine the cost effectiveness of whole exome sequencing (WES) in the diagnosis of children with developmental delay in a developing country. In this study of 40 patients, the average cost of traditional investigations and indirect costs related to rehabilitation and medications per child were USD847 and 6,585 per year, respectively. With a current cost for WES of approximately USD1,200, we concluded that performing WES could be cost effective, even in countries with limited resources, as it provides the option for genetic counseling in affected families with an ultimate reduction of overall financial burden to both parents and health care system.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-02-02T00:00:00+0100
      DOI: 10.1055/s-0040-1722265
      Issue No: Vol. eFirst
       
  • Bell's Palsy Associated with SARS-CoV-2 Infection in a 2-Year-Old Child

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      Authors: Bsales; Serina, Olson, Birk, Gaur, Sunanda, Chefitz, Dalya, Carayannopoulos, Mary, Uprety, Priyanka, Esfahanizadeh, Abdolreza
      Abstract: Bell's palsy (BP) is an acute, unilateral facial nerve palsy (FNP) that is a diagnosis of exclusion, sometimes associated with infectious causes. In this article, we described a previously healthy 2-year-old child patient who presented with left-sided facial droop, positive severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) real-time reverse transcription polymerase chain reaction (RT-PCR), positive SARS-CoV-2 immunoglobulin (Ig)-G antibody, and negative cerebrospinal fluid (CSF) SARS-CoV-2 (PCR and serology). This is the second reported pediatric case of BP in the setting of SARS-CoV-2, and the first in a child without comorbidities. Due to the positive antibody test, we presented the idea that SARS-CoV-2 could be a triggering factor of the FNP, possibly occurring in the later stages of disease.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-01-27T00:00:00+0100
      DOI: 10.1055/s-0040-1722210
      Issue No: Vol. eFirst
       
  • Primary Headache Associated with Sexual Activity in Adolescents:
           Illustrative Cases

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      Authors: Patel; Jinal, Rothner, David A.
      Abstract: Primary headache associated with sexual activity (PHASA) is well described in adults, but reports in adolescents are lacking. PHASA is likely underreported in adolescents. A delay in or an absence of timely and adequate treatment has the potential to negatively impact normal adolescent psychosexual development. Physicians should consider this disorder in adolescents presenting with headaches, and understand the characteristics, diagnosis, and treatment. We report two cases of PHASA in adolescents and review the epidemiology, presentation, and management.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-01-13T00:00:00+0100
      DOI: 10.1055/s-0040-1721827
      Issue No: Vol. eFirst
       
  • Niemann-Pick Disease Type C with Isolated Splenomegaly: A Case Report in a
           Child

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      Authors: Torres; Bruna Ribeiro, Russo, Daniela Otoni, Vuolo, Vinícius Andrade Gomes, Borborema, Tarcísio Silva, Barbosa, André Vinícius Soares, Diniz, Lílian Martins Oliveira
      Abstract: Niemann-Pick disease type C is an innate error of lysosomal storage metabolism with an autosomal recessive inheritance pattern. The disease causes intracellular cholesterol accumulation and changes in sphingolipid metabolism. If cholesterol accumulates, the signs and symptoms of visceral involvement predominate. Neurological involvement results from sphingolipid accumulation. A 7-year-old student was referred to a tertiary service for the investigation of asymptomatic splenomegaly. Following an extensive examination, he was diagnosed with Niemann-Pick disease type C. Interestingly, this case's only symptom was splenomegaly.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-01-13T00:00:00+0100
      DOI: 10.1055/s-0040-1722209
      Issue No: Vol. eFirst
       
  • Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1): Are We
           Diagnosing Yet'

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      Authors: Reddy; Chaithanya, Paria, Pradip, Chatterjee, Debajyoti, Saini, Arushi G., Suthar, Renu, Singanamalla, Bhanudeep, Kochar, Gurpreet
      Abstract: The spectrum of disorders associated with the IGHMBP2 (immunoglobulin μ-binding protein 2) gene pathogenic variants is still unknown. We discuss here an interesting case of genetically confirmed spinal muscular atrophy with respiratory distress type 1 (SMARD1) with atypical sparing of the diaphragm, thus expanding the phenotypic spectrum of this intriguing disorder and also highlight the importance of reconsidering the selection criteria for considering IGHMBP2 pathogenic variants.
      Citation: Journal of Pediatric Neurology ; : -
      PubDate: 2021-01-06T00:00:00+0100
      DOI: 10.1055/s-0040-1721800
      Issue No: Vol. eFirst
       
 
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