Late-onset Krabbe's Disease (Globoid Cell Leukodystrophy): A case report.
- Author:
Hee seung YANG
1
;
Seung Hwa LEE
;
Eun Kyoung KANG
;
Young Ok PARK
Author Information
1. Department of Rehabilitation Medicine, Seoul Verterans Hospital, Korea. rmdlsh@hanmail.net
- Publication Type:Case Report
- Keywords:
Krabbe's disease;
Galactocerebroside beta-galactosidase;
Peripheral neuropathy
- MeSH:
Adult;
Ataxia;
Blindness, Cortical;
Brain;
Demyelinating Diseases;
Diagnosis;
Female;
Foot;
Gait;
Hand;
Hemiplegia;
Humans;
Leukocytes;
Leukodystrophy, Globoid Cell*;
Lower Extremity;
Magnetic Resonance Imaging;
Muscle Spasticity;
Muscular Atrophy;
Neurologic Examination;
Paraplegia;
Peripheral Nerves;
Peripheral Nervous System;
Peripheral Nervous System Diseases;
Pyramidal Tracts;
Reflex, Stretch
- From:Journal of the Korean Academy of Rehabilitation Medicine
2005;29(5):531-536
- CountryRepublic of Korea
- Language:Korean
-
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.
