Krabbe's leukodystrophy without globoid cells
| Autor: | Bluma Tischler, Donald F. Farrell, Louis I. Woolf, Henry G. Dunn, Clarisse L. Dolman, Catherine Hasinoff |
|---|---|
| Rok vydání: | 1976 |
| Předmět: |
Male
Pathology medicine.medical_specialty business.industry Leukodystrophy Neural Conduction Brain Autopsy medicine.disease Nerve conduction velocity Median nerve Leukodystrophy Globoid Cell Myelin Cerebellar Cortex Atrophy medicine.anatomical_structure Gliosis Child Preschool medicine Humans Neurology (clinical) medicine.symptom business Spastic quadriplegia Myelin Sheath |
| Zdroj: | Neurology. 26(11) |
| ISSN: | 0028-3878 |
| Popis: | Krabbe9s infantile cerebral sclerosis with a prolonged course was present in a boy who became increasingly hypertonic during infancy and had an increased protein level in the spinal fluid. At 4 years he showed significant growth failure, profound mental retardation, spastic quadriplegia, bilateral optic atrophy, and depressed tendon reflexes. Conduction velocity in motor fibers of the median nerve had become progressively impaired. Autopsy at 5 years 10 months showed severe leukodystrophy with demyelination and gliosis. No stored breakdown products or globoid cells were seen in the brain. Galactosyl ceramide beta-galactosidase was virtually absent, and hardly any myelin was demonstrable on chemical and electron microscopic studies. The presence of globoid cells may not be essential for the pathologic diagnosis of Krabbe9s leukodystrophy in the presence of appropriate enzyme deficiency. |
| Databáze: | OpenAIRE |
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