Hyperhomocysteinemia is a rare neurometabolic syndrome with diverse manifestations in the pediatric age group, thereby posing a diagnostic challenge. Biochemical testing is imperative to guide plan of evaluation, which may include appropriate genetic testing, in inherited disorders. Through this case-based approach, we demonstrate the heterogeneity of clinical presentation, biochemical and genetic evaluation, and treatment strategies that may reverse this condition among children.
View Article and Find Full Text PDFSudden unexpected death in epilepsy (SUDEP) remains an important cause of epilepsy-related mortality, especially in patients with refractory epilepsy. The exact cause is not known, but postictal cardiac, respiratory, and brainstem dysfunctions are implicated. SUDEP prevention remains a big challenge.
View Article and Find Full Text PDFIndian J Pediatr
January 2020
Tubercular meningitis (TBM) continues to be a common cause of neuromorbidity in children. There is no single diagnostic method that can rapidly detect Mycobacterium tuberculosis (M.tb) in TBM patients with high sensitivity and specificity.
View Article and Find Full Text PDFA 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.
View Article and Find Full Text PDFPaediatr Int Child Health
November 2019
: In perinatal asphyxia, hypoxia often leads to myocardial ischaemia. Few studies have assessed the degree of myocardial dysfunction in severely asphyxiated term neonates. : To assess the extent of myocardial damage in newborns with severe perinatal asphyxia.
View Article and Find Full Text PDFThere have been few case reports showing association of vitamin B deficiency with infantile spasms. We planned this study to see if there was an association of serum vitamin B deficiency in children with development of infantile spasms. Cases included children with infantile spasms of ages 6 months to 3 years.
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