All issues > Volume 46(1); 2003

Case Report

J Korean Pediatr Soc. 2003;46(1):95-99. Published online January 15, 2003.

A Case of Krabbe Disease with Infantile Spasm

Ja Kyoung JK Kim¹, Dal Hyun DH Kim¹, Bo Young BY Kang¹, Young Se YS Kwon¹, Young Jin YJ Hong¹, Byong Kwan BK Son¹, Hye Ran HR Yoon²

¹Department of Pediatrics, College of Medicine, Inha University, Incheon, Korea
²Seoul Clinical Laboratory, Seoul, Korea

Correspondence Young Se YS 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.

Keywords :Krabbe disease, Infantile spasm, Galactocerebroside beta-galactosidase