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

, Yang, Hee seung; , Lee, Seung Hwa; , Kang, Eun Kyoung; , Park, Young Ok

Case Report

Journal of the Korean Academy of Rehabilitation Medicine 2005;29(5):531-536.

Yang, Hee seung , Lee, Seung Hwa , Kang, Eun Kyoung , Park, Young Ok

Department of Rehabilitation Medicine, Seoul Verterans Hospital, Korea. rmdlsh@hanmail.net

후기 발현형 Krabbe병⁣증례 보고⁣

양희승, 이승화, 강은경, 박영옥

서울보훈병원 재활의학과

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 β- 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 in-trinsic 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. (J Korean Acad Rehab Med 2005; 29: 531-536)

Key Words: Krabbe's disease, Galactocerebroside β-galactosidase, Peripheral neuropathy