Childhood Neurological Disorders With Hyperhomocystinemia: A Case-Based Review

Abstract

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.

Keywords: Developmental delay; Epilepsy; Homocysteine; Vitamin B(12).