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Case Report

A Case of Krabbe Disease with Infantile Spasm

Ja Kyoung Kim, Dal Hyun Kim, Bo Young Kang, Young Se Kwon, Young Jin Hong, Byong Kwan Son, Hye Ran Yoon

Clin Exp Pediatr. 2003;46(1):95-99. Published online January 15, 2003

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...

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