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Case Studies | Paediatrics | India | Volume 11 Issue 12, December 2022

A Rare Case of Late Infantile Metachromatic Leukodystrophy

Jayvardhan Lade ^[3] | Aastha Jain | Pawan Nimbhorkar ^[4] | Arunava Bharati | Rakesh Thamke ^[4]

Abstract: Metachromatic leukodystrophy is a type of lysosomal storage disorders with autosomal recessive inheritance caused by the deficiency of the arylsulfatase an enzyme which leads to the accumulation of cerebroside sulfatides, which result in the dysfunction and destruction of the central nervous system and peripheral nervous system myelin sheaths. Amongst its forms the one presenting in late childhood has the bad prognosis. MLD has a prevalence rate of 1 in 40, 000-160, 000 worldwide. Magnetic resonance imaging and genetic study has key role in diagnosis. Magnetic resonance imaging can rule out other clinical conditions and can give clue to diagnosis and confirmed by genetic study. Early and accurate diagnosis is key to start palliative management and genetic counselling. A 2 years 9 months old female presented with a episode of convulsion and loss of attained milestones. MRI and genetic study confirmed a diagnosis of late infantile metachromatic leukodystrophy.

Keywords: Lysosomal storage disorder, Metachromatic, Leukodystrophies, Arylsulfatase A, PSAP

Edition: Volume 11 Issue 12, December 2022,

Pages: 958 - 961