MRI Diagnosis in Classical Metachromatic Leukodystrophy

Abstract

Metachromatic leukodystrophy (MLD) is a rare group of genetically-transmitted, autosomal-recessive, lipid-storage disorders characterised by accumulation of glycosphingolipids caused by deficiency of Arylsulfatase-A enzyme in lysosomes of cells necessary for formation of normal myelin sheath. The disease can present anytime from infancy to adulthood and is characterised by progressive deterioration of motor & neurocognitive functions with variable prognosis. Though till date, there is no definitive treatment / cure for the disease yet bone marrow transplantation in infancy has shown to delay the progression of disease & gene therapy in animal experiments has shown promising future, making early diagnosis very imperative. Diagnosis is usually suspected on magnetic resonance imaging (MRI) of brain and confirmed by enzyme assays. Hence, in this article we are describing the classical brain MRI and clinical features to make the readers aware of this uncommon but important neurological entity.