Metachromatic Leukodystrophy (MLD): A Rare Genetic Disorder in child

Abstract

Metachromatic leukodystrophy is a rare hereditary neurodegenerative disorder that causes fatty substances to build up in cells, particularly in the brain, spinal cord and peripheral nerves. This is caused by a deficiency of an enzyme that helps break down lipids called sulfatides. We present a case of a four-year-old boy born of non-consanguinous marriage with complaints of progressive loss of fully developed motor milestones as the inability to walk and sit (regression of achieved motor milestones). The patient was diagnosed with MLD based on whole xome sequencing and discharged on symptomatic care and physiotherapy to improve the patient's quality of life.