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.
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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.)
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Chemical References |
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Topics |
- Cerebroside-Sulfatase
(deficiency)
- Child
- Diagnosis, Differential
- Humans
- Leukodystrophy, Globoid Cell
(diagnosis, enzymology, physiopathology)
- Leukodystrophy, Metachromatic
(diagnosis, metabolism)
- Male
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