Infantile metachromatic leukodystrophy in an 18 month old girl

Metachromatic leukodystrophy is a rarely occurring neurodegenerative metabolic disorder with an incidence of 1-9 individuals out of 1,000,000. We present a similar case in an eighteen month old child which was extremely challenging to diagnose. Clinical symptoms suggested motor regression and developmental delay which gave rise to suspicion of a neurodegenerative disorder. An MRI scan of the brain revealed cortical demyelination with tigroid appearance which confirmed the diagnosis of Metachromatic leukodystrophy. Due to the lack of availability of a treatment option like bone marrow transplant, the patient could only be given physiotherapy to help with the musculoskeletal manifestations of the disorder. The purpose of this case report is to identify clinical presentation and classical MRI findings to diagnose MLD in absence of enzyme assay and gene mutation analysis.