Late-onset Krabbe disease initially diagnosed as cerebroside sulfatase activator deficiency.

Abstract

Clinical and biochemical findings in a male subject with progressive encephalopathy and peripheral neuropathy are presented. Early development was normal. At age 3.5 years, he had seizures associated with fever. Subsequently, there was progressive neurologic deterioration. A CT brain scan at age 4 years, 2 months demonstrated multiple areas of variable density in the white matter. There was mild slowing of nerve conduction velocities and a sural nerve biopsy revealed segmental demyelinative neuropathy. Metachromatic leukodystrophy was suspected, but arylsulfatase A activity in leukocytes and fibroblasts was in the normal range. The cerebroside sulfate loading test on intact cultured fibroblasts showed attenuated hydrolysis leading to a tentative diagnosis of cerebroside sulfatase activator deficiency. However, the attenuated response of proband fibroblasts was not normalized by supplementation with activator in a reproducible manner, and urine showed hyperexcretion rather than deficiency of activator. Ultimately, an assay for galactosylceramide beta-galactosidase activity established a deficiency of this enzyme leading to the diagnosis of late-onset Krabbe disease.

• Authors: A L Fluharty, L Neidengard, D Holtzman, H Kihara
• Journal: Metabolic brain disease (Metab Brain Dis) Vol. 1 Issue 3 Pg. 187-95 (Sep 1986) ISSN: 0885-7490 [Print] United States
• PMID: 2907603 (Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Cerebroside-Sulfatase

Topics

• Cerebroside-Sulfatase (deficiency)
• Child
• Diagnosis, Differential
• Humans
• Leukodystrophy, Globoid Cell (diagnosis, enzymology, physiopathology)
• Leukodystrophy, Metachromatic (diagnosis, metabolism)
• Male