The Solute Carrier Family 6 Member 1 (SLC6A1) gene encodes the gamma-aminobutyric acid (GABA) transporter 1, which is one of the main GABA transporters. The clinical picture of SLC6A1 gene mutations is characterized by a broader spectrum including a mild-to-moderate intellectual disability, speech difficulties, behavioral problems, epilepsy (often with myoclonic-atonic and atypical absence seizures, characterizing a myoclonic-atonic epilepsy), and neurological signs. We describe a boy with an SLC6A1 mutation and a milder phenotype, characterized by a learning disorder without intellectual disability, nonspecific dysmorphisms, and an electroencephalogram picture closely resembling that of myoclonic-atonic epilepsy with brief absence seizures that have appeared during the follow-up, responsive to valproic acid.

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Context: Metachromatic leukodystrophy (MLD) is a rare autosomal-recessive disorder characterized by demyelination of central and peripheral nervous system. There is scarcity of literature on the electrophysiological aspects of peripheral nerves and the advanced neuroimaging findings in MLD. Aim: The aim was to study the nerve conduction parameters and advanced neuroimaging findings in patients with MLD. Materials and Methods: This study is a retrospective analysis conducted, between 2005 and 2016, of 12 patients who had biochemical, histopathological, or genetic confirmation of MLD and disease onset before 18 years of age. The clinical, electroneurography, and the advanced neuroimaging findings were reviewed and analyzed. Statistical Analysis: The data were presented as percentages or mean ± standard deviation as defined appropriate for qualitative and quantitative variables. Results: Mean age of onset was 4.84 (±4.60) years and seven patients were males. Eight patients had juvenile MLD and four had late infantile MLD. Clinical presentation of psychomotor regression was more common in infantile MLD (75%), whereas gait difficulty (62.5%) and cognitive impairment (37.5%) were more frequent in juvenile MLD. Nerve conduction study (NCS) revealed diffuse demyelinating sensorimotor peripheral neuropathy in 9 (75%) patients. One patient had a rare presentation with conduction blocks in multiple nerves with contrast enhancement of cauda equina. Diffusion restriction involving periventricular and central white matter was seen in five patients and bilateral globus pallidi blooming was noted in three patients. Conclusion: This study highlights the utility of NCS and advanced magnetic resonance imaging sequences in the diagnosis of MLD.

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Introduction: Demyelinating disorders of central nervous system are rare childhood disorders that cause significant physical and cognitive disabilities. Early diagnosis and appropriate treatment determines prognosis and outcome. Objective: The objective of this work was to study clinical profile, investigative and radiological features, treatment, and outcome of children with demyelinating disorders. Materials and Methods: A retrospective chart review of 32 children with demyelinating disorders admitted in a tertiary-care pediatric hospital from Bangalore between November 2013 and October 2017 was conducted. Sociodemographic data, clinical features, cerebrospinal fluid (CSF) findings, radiological features, treatment received, and outcome were collected and results were analyzed. Results: Among 32 patients of demyelinating disorders, majority were acute disseminated encephalomyelitis (ADEM) (15, 46.9%), followed by transverse myelitis (9, 28.1%), multiple sclerosis (MS) (3, 9.4%), optic neuritis (3, 9.4%), and neuromyelitis optica (NMO) (2, 6.2%). Mean age of presentation was 7.8 years. Among 32 patients, 15 were male (47%). In patients with ADEM, the mean age of presentation was 5.5 years. Two patients had tumefactive ADEM and 10 recovered after steroid therapy. In patients with MS, the mean age of presentation was 10.6 years; one patient died and the condition of two patients improved. In patients with transverse myelitis, the mean age of presentation was 8.9 years and seven patients recovered. In a patient with NMO, CSF was positive for antibody to aquaporin-4. The child improved with steroids and intravenous immunoglobulin. Three patients with optic neuritis were treated with steroids and they recovered. Conclusion: Even though demyelinating disorders are rare in pediatric age group, one should be aware of this entity as early diagnosis and treatment improves outcome. Most common among them is ADEM.

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Amniotic band syndrome (ABS) is a rare congenital disease with variable manifestations ranging from simple constriction rings at the extremities to major defects such as exencephaly. Here we report the case of a female baby born full term (39 weeks) from a 35-year-old primiparous mother by cesarean section. In addition to the constriction rings at the extremities (fingers), the newborn presented facial malformations and a cranial anomaly suggestive of exencephaly. Supportive treatment was chosen because of the poor prognosis, and the child died 5 months later. Depending on the anomaly associated with ABS and its complexity, as in our case, genetic studies should be performed whenever possible, and the parents should be informed about the possibility of recurrences and incompatibility with life.

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Context: Febrile convulsion is one of the most important types of convulsions in children. Iron and zinc are important trace elements that affect some enzymes in central nervous system, and their deficiencies could disturb the inhibitory mechanisms in the brain, thus producing convulsions. Aim: To evaluate the relation between iron deficiency, zinc deficiency, and febrile convulsions. Settings and Design: A cross-sectional study was carried out. Subjects and Methods: The study included 100 children of the pediatric hospital in Assiut University, Assiut, Egypt; 50 children with febrile convulsions as the study group and 50 febrile children without convulsions as the control group. Statistical Analysis: The Statistical Package for the Social Sciences (SPSS) software, version 20, was used for statistical analysis. Results: The mean value of hemoglobin, mean corpuscular volume, mean corpuscular hemoglobin and mean corpuscular hemoglobin concentration iron, and ferritin were significantly lower in cases than that in the control group. Significantly, zinc level was lower in 68% of cases and 36% of control children. Moreover, the mean value of zinc was significantly lower in cases than that in the control group. Conclusion: Lower levels of iron and zinc seem to be predisposing factors for developing febrile convulsions.

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A 7-year-old girl presented with progressive walking difficulties, spasticity, and cognitive decline with onset at 3 years of age. No seizures, vision, or hearing impairment were reported. The magnetic resonance imaging of the brain revealed cerebellar atrophy and evidence of iron deposition in the globi pallidi and substantia nigra. The clinico-radiological profile was suggestive of atypical childhood-onset neuroaxonal dystrophy. The patient was found to have compound heterozygous mutations in the PLA2G6 gene confirming the diagnosis.

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Background: Placement of ventriculoperitoneal shunt is a standard treatment for hydrocephalus. The risk of shunt malfunction in the first year is 25%–40% making endoscopic third ventriculostomy (ETV) a feasible option in those patients with shunt failure. Aim: The aim of this study was to evaluate ETV as a viable option in patients with shunt malfunction and to correlate the clinical outcome following successful ETV with functional and radiological outcomes. Materials and Methods: All patients who underwent ETV as a diversion procedure for hydrocephalus following shunt failure or malfunction over 1 year were studied. Functional outcome was evaluated by Wee function independence measure score carried out preoperatively, postoperatively, and at 6-month follow-up. Similar comparison was carried out for radiological parameters such as effacement of gyri, periventricular lucency, frontal horn diameter (maximum), Evans’ index, and third ventricular diameter. Results: Of 15 patients, 61.5% were shunt free after ETV. All the failures were noted in the first month following the procedure. The factors, which showed statistically significant correlation with the outcome of ETV, included age (P = 0.030), preoperative functional score (P = 0.006), and all the three components of the functional scoring, namely self-care score (P = 0.087), motor control score (P = 0.035), and neurocognitive score (P = 0.003). Parameters such as Evans’ index, maximum frontal horn diameter, and third ventricular diameter showed no significant difference between preoperative and postoperative scans. In follow-up imaging, only the frontal horn diameter showed a significant improvement (P = 0.047). Conclusion: ETV leads to significant neurocognitive improvement and postoperative functional status making it a viable option in patients who present with shunt malfunction.

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Burkitt lymphoma is a high-grade B-cell lymphoma with aggressive course of disease and primarily systemic nodal involvement. Primary Burkitt lymphoma with isolated central nervous system (CNS) involvement and that too in pediatric population has been rarely reported. Here, we present a case of a primary Burkitt lymphoma involving brain in an human immunodeficiency virus–positive pediatric patient who was on antiretroviral therapy. Currently, there are no established protocols or guidelines for management of primary CNS Burkitt lymphoma thus posing challenges in the management of such cases. Our patient was successfully treated by surgical resection followed by chemotherapy and radiotherapy.

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The objective of this study was to report a case of central pontine and extrapontine myelinolysis in a child, a rare neurological disorder. A diagnosis of demyelination carries important therapeutic and prognostic implications. In most cases, the diagnosis is made clinically and confirmed radiologically. Treatment should be initiated sincerely as severe cases have a dismal prognosis.

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A three-months boy presented with recurrent seizures. On examination, he was fair, had dilated scalp veins, sparse hypopigmented hair, and was hypotonic. X-ray of the skull showed wormian bones. The child was diagnosed with Menkes disease. The manuscript aims to emphasize dilated scalp veins in diagnosis of Menkes disease.

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Introduction: Seizure is the most common neurological illness in pediatric population and its risk is highest in the first year of life. Studies regarding etiology of afebrile seizures worldwide and in India are limited; hence, the current study was undertaken. Objective: The objective of this work was to study the etiology of afebrile seizures in infants aged 1 month to 1 year. Materials and Methods: A retrospective study of afebrile infantile seizure was conducted at pediatric neurology outpatient department between January 2015 and September 2017. All children with first episode of afebrile seizures were included. Biochemical and hematological investigations, imaging, and electroencephalogram were performed whenever necessary. Simple descriptive statistics were used to analyze the data in the form of frequencies with percentages and median as applicable. Results: One hundred twenty-one children with a mean age of 8.1 months were analyzed. Of these children, 58% were males. Positive family history was found in 1.65% children, developmental delay in 70%, and dysmorphism in 8%. Presenting seizure type were generalized (74%), focal (21%), and unknown (6%) onset. Etiology was deducible in 92% cases. Structural etiology was the most common (66%), followed by metabolic (12%), infections (7%), and others (6%). In structural pathology, common causes were perinatal insult (38%) and cerebral malformations (18%). Imaging was done in 98 cases and yield was 83% (85 cases). Conclusion: Etiology was deducible in 92% of children. Seizures due to structural etiology, secondary to perinatal insult followed by metabolic and infections, are important causes. Imaging aids are important in etiological diagnosis. Etiological evaluation should be considered in children following first episode of afebrile seizures, especially in developing countries like India.

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