Krabbe Disease
Alternate Names : Galactosylcereamidase Deficiency, Galactosylcerebrosidase Deficiency, Globoid Cell Leukodystrophy
Krabbe Disease Diagnosis & Tests
Examination of the retina may show optic atrophy. Abnormal posturing may be evident (opisthotonos and decerebrate posturing) in late stages of the disorder. There may be signs of deafness.
Tests: - Galactocerebroside beta-galactosidase levels (levels can be measured from the serum, white blood cells, chorionic villi, and fibroblasts)
- CSF total protein may be increased
- MRI of the head is the best test to reveal abnormal white matter of the brain
- CT of the head
- Nerve conduction velocity showing delayed nerve conduction and evidence of demyelination
- Presence of abnormal Globoid cells in biopsy tissue of the nervous system
- Genetic testing may be available for the glycosylceramidase gene (GALC)
|
