| Alternative Names:
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| Globoid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylcereamidase deficiency |
| Symptoms:
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- Family history of Krabbe disease, especially in a sibling
- Infantile irritability and sensitivity to loud sounds
- Feeding difficulties
- Vomiting
- Failure to thrive
- Unexplained fevers
- Changing muscle tone from floppy to rigid
- Seizures, deterioration in function of nerves in brain and body
- Infant who ceases to follow faces or motion (indicates blindness)
- Decreased hearing that progresses to deafness
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| Signs and tests:
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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)
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