Juvenile Metachromatic Leucodystrophy: A Rare Case Report

Metachromatic leukodystrophy (MLD), also called arylsulfatase A deficiency (ARS-A) which is a rare demyelinating disease (prevalence 1:40,000, presents with neurological and psychiatric symptoms. Clinical assessment is difficult, due to nonspecific signs and symptoms. We report a case of a 7-year-old male child who is born of 3-rd degree consanguineous marriage with normal developmental milestones up to 3.5 years of age presenting with complaints of progressive impairment of walking over 3.5 years. Juvenile form of MLD was diagnosed by typical history, neuroimaging and confirmed by Clinical Exome Sequencing.