Late-onset Krabbe's Disease (Globoid Cell Leukodystrophy): A case report

ABSTRACT

Krabbe's disease is a rare autosomal recessive disorder characterized by hemiplegia, paraplegia, ataxia, cortical blindness, and peripheral neuropathy. This disease is caused by deficiency of the lysosomal enzyme galactocerebroside beta-galactosidase(GALC), resulting in demyelination of white matter of brain and peripheral nerve. We reported a 38-year-old female developed a slowly progressive weakness of lower extremities and gait disturbance since age of 10. Neurological examination revealed spastic weakness of both lower extremities, hyperactive deep tendon reflexes and intrinsic muscle atrophy of both hands and feet. Electrophysiologic study showed uniform demyelinating sensorimotor peripheral neuropathy. T2-weighted brain MRI (magnetic resonance imaging) findings revealed symmetric high signal intensity along the bilateral corticospinal tract. The diagnosis of Krabbe's disease was confirmed by finding of markedly reduced GALC activity in leukocyte. We recommended to consider Krabbe's disease in the diagnosis of patients affecting both central and peripheral nervous system.