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A Case of Krabbe Disease with Infantile Spasm

Journal of the Korean Pediatric Society 2003;46(1):95-99.
Published online January 15, 2003.
A Case of Krabbe Disease with Infantile Spasm
Ja Kyoung Kim1, Dal Hyun Kim1, Bo Young Kang1, Young Se Kwon1, Young Jin Hong1, Byong Kwan Son1, Hye Ran Yoon2
1Department of Pediatrics, College of Medicine, Inha University, Incheon, Korea
2Seoul Clinical Laboratory, Seoul, Korea
영아 연축을 동반한 Krabbe병 1례
김자경1, 김달현1, 강보영1, 권영세1, 홍영진1, 손병관1, 윤혜란2
1인하대학교 의과대학 소아과학교실
2서울의과학연구소
Correspondence: 
Young Se Kwon, Email: ysped@inha.ac.kr
Abstract
Krabbe disease is a rare autosomal recessive disorder clinically characterized by retardation in motor development, prominent spasticity, seizures, and optic atrophy. Pathologically, there are many globoid cells in the white matter, in addition to the lack of myelin and the presence of severe gliosis. Hence Krabbe disease is known as globoid cell leukodystrophy. Biochemically, the primary enzymatic deficiency in Krabbe disease is galactocerebroside beta-galactosidase. Patients with Krabbe disease can be subdivided into the early-onset type and late-onset type, according to the onset of clinical manifestations. Most patients with early-onset type die before their second birthday. We describe a girl with Krabbe disease associated with uncontrolled seizures, which was confirmed with biochemical study and MRI. The clinical findings of this patient included hyperirritability, scissoring of the legs, flexion of arm, and clenching of the fists, and generalized tonic seizures. EEG showed hypsarrhythmia, and MRI demonstrated degenerative white matter changes in bilateral periventricular white matter, posterior rim of internal capsule, basal ganglia and brain stem on T2W1 and FLAIR image. The diagnosis was based on clinical features of progressive neurologic deterioration in conjunction with low galactocerebroside beta-galactosidase activity.
Key Words: Krabbe disease, Infantile spasm, Galactocerebroside beta-galactosidase


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