Abstract
Metachromatic leukodystrophy (MLD) occurs due to cerebroside sulfatide accumulation in the extraneural and neural tissues. Arylsulfatase A (ARSA) enzyme deficiency leads to progressive focal or generalized demyelination. This rare disorder involves both central and peripheral nervous system. We report a two-year-old boy, born of consanguineous marriage presenting with recurrent seizures from 13 months of age, followed by regression of milestones and spasticity from 15 months of age. Neurodegenerative disorder was considered initially and the child underwent neuroimaging followed by enzyme level assay. Magnetic resonance imaging scan (MRI) of brain revealed demyelination involving both cerebral cortex in the periventricular white matter with sparing of subcortical u fibers and tigroid appearances /leopard skin sign, hallmark of metachromatic leukodystrophy. Normal b-galactosidase enzyme activity along with undetectable (ARSA) enzyme levels confirmed the diagnosis of late infantile variant of metachromatic leukodystrophy. A two-year-old boy presented with recurrent, generalized seizures, regression of milestones along with characteristic MRI findings and untraceable ARSA activity suggesting late infantile metachromatic leukodystrophy.
Highlights
Metachromatic leukodystrophy (MLD) occurs due to cerebroside sulfatide accumulation in the extraneural and neural tissues
Case Report: We report a two-yearold boy, born of consanguineous marriage presenting with recurrent seizures from 13 months of age, followed by regression of Jillalla Narsing Rao1, Swathi Chacham2, Uppin Narayan Reddy3, Janampally Ravikiran4, S
Characteristic Magnetic resonance imaging scan (MRI) findings, tigroid appearance/leopard skin sign coupled with undetectable arylsulfatase A activity suggests late infantile variant of metachromatic leukodystrophy
Summary
Metachromatic leukodystrophy (MLD), a rare neurodegenerative metabolic disorder occurs with an incidence of 1 in 40, 000 to 1,60 000 individuals, worldwide [1]. A two-year-old male child born of third-degree consanguinity, presented with the history of generalized, recurrent seizures from 13 months of age. At the age of 13th month, the child developed generalized, tonic-clonic seizures which were associated with fever and minor respiratory illness. At the age of 15th months, he developed recurrent seizure episodes, which necessitated administration of 3rd anti-epileptic agent. This episode was succeeded by regression of milestones which was progressive in nature. The child required frequent hospitalization for recurrent seizures and required multiple anti-epileptic agents. Bone marrow transplantation, a newer modality of treatment was not feasible due to financial constrains
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