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SCN1A mutation is most often associated with Dravet syndrome, which is characterized by severe encephalopathy. One of the other presentations of SCN1A mutation is developmental and epileptic encephalopathy-6B (DEE6B). It is a severe neurodevelopmental disorder characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder. Here we report a rare case of novel SCN1A mutation presenting as hyperkinetic movement disorder in the form of multifocal dystonia and parakinesia in a 12-year-old boy, which aggravated with the use of sodium channel blockers.
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Introduction: Inborn errors of metabolism (IEM) are a rare cause of epilepsy in pediatric age group. Prompt diagnosis is essential, as some of these disorders are treatable. Aim: To determine the prevalence, clinical, and etiological profile of metabolic epilepsy in children. Methods: A prospective observational study of children with new onset seizures diagnosed as inherited metabolic disorder in a tertiary care hospital, South India. Results: Among 10,778 children with new onset seizures, 63 (0.58%) had metabolic epilepsy. The male female ratio was 1.3:1. Onset of the seizures were in neonatal period in 12 (19%), infancy in 35 (55.6%), and between one and 5 years of age in 16 (25.4%) children. Generalised seizures were seen in 46 (73%), followed by multiple seizure types (31.7%). The associated clinical features included developmental delay in 37 (58.7%), hyperactivity in 7 (11%), microcephaly in 13 (20.6%), optic atrophy in 12 (19%), sparse hair and/or seborrheic dermatitis in 10 (15.9%), movement disorder in 7 (11%), and focal deficit in 27 (42.9%) patients. Magnetic resonance imaging brain was abnormal in 44 (69.8%) and diagnostic in 28 (44.4%) patients. Causative metabolic errors included vitamin responsive errors in 20 (31.7%), disorders of complex molecules in 13 (20.6%), amino acidopathies in 12 (19%), organic acidemias in 10 (16%), disorders of energy metabolism in 6 (9.5%), and peroxisomal disorders in 2 (3.2%) patients. With specific treatment, seizure freedom could be achieved in 45 (71%) children. Five children lost to follow-up and two died. Among the remaining 56 patients, 11 (19.6%) had a good neurological outcome. Conclusion: Vitamin responsive epilepsies were the most frequent cause of metabolic epilepsy. Early diagnosis and prompt treatment is necessary as only one-fifth had a good neurological outcome.
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Background: Cerebral venous sinus thrombosis (CVST) is rare in children, increasingly being recognized of late due to advances in neuroimaging. The aim of the study was to describe the clinical, etiological, and imaging characteristics of CVST and its outcome in children. Study Design: A retrospective chart review of children with CVST in a tertiary hospital from January 2011 to December 2020. Results: Of the 35 patients enrolled, 26 (74.3%) patients were males. The mean age was 5.03 years with a range of 0.17-12 years. The common presenting symptoms were seizures in 18 (51.4%) followed by headache in 17 (48.6%), fever in 16 (45.7%), and vomiting in 15 (42.9%) children. Superior sagittal sinus was the commonest site of thrombus occlusion in 20 (57%), followed by transverse sinus in 18 (51.4%) patients. Multiple sinus involvement was noticed in one-half of the patients. The risk factors associated with CVST were head and neck infections in 15 (42.9%) children, inherited thrombophilia in 4 (11.6%), head trauma, iron deficiency anemia, leukemia with l-asparaginase therapy, acquired thrombophilia in 3 (8.6%) each, dehydration in 2 (5.7%), and dural arteriovenous fistula in one child. Two children (5.7%) died and one-third of the cohort had a poor outcome. Conclusions: Head and neck infections continue to be the common cause of CVST in children. Though mortality is low, CVST is associated with significant morbidity in children.