A Rare Case of Hypomyelinating Leukodystrophy and Its Management: A Case Report and Literature Review

Abstract

A subset of hereditary white matter disorders called hypomyelinating leukodystrophies (HLD) is characterized primarily by the absence of myelin deposition. Although the clinical presentation can be mild and the development of symptoms can occur in adolescence or adulthood, the majority of severe cases present during infancy and early childhood with significant neurological impairments. The clinical features vary from muscle stiffness to seizures and developmental delay. The detailed myelination process can be seen with magnetic resonance imaging (MRI), and many patients are diagnosed using MRI pattern recognition and next-generation sequencing (NGS) in most cases. Here, we report a case of an infant suffering from the hypomyelinating leukodystrophy-13 (HLD-13) variant, whose next-generation sequencing revealed a pathogenic homozygous variant.