Krabbe disease
Alternative Names
Globoid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylceramidase deficiencySymptoms
Early-onset Krabbe disease:
- Changing muscle tone from floppy to rigid (decerebrate posturing)
- Hearing loss that leads to deafness
- Failure to thrive
- Feeding difficulties
- Irritability and sensitivity to loud sounds
- Severe seizures (may begin at a very early age)
- Unexplained fevers
- Vision loss that leads to blindness
- Vomiting
Late-onset Krabbe disease:
Vision problems may appear first, followed by walking difficulties and rigid muscles. Symptoms vary from person to person. Other symptoms may occur.
Exams and Tests
An exam of the retina in the eye may show damage to the optic nerve. There may be signs or deafness and abnormal posturing in the late stages of the disorder.
Tests that may be done include:
- Blood test to look for galactosylceramidase levels in white blood cells
- CSF total protein
- MRI of the head
- Nerve conduction velocity
- Testing for the GALC gene defect
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