Krabbe disease

Alternative names:

globoid cell leukodystrophy

Symptoms:

• family history of Krabbe disease
• feeding difficulties
• vomiting
• failure to thrive
• unexplained fevers
• changing muscle tone from floppy to rigid
• seizures
• infant who ceases to follow faces or motion (symptomatic of blindness)

Signs and 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 white blood cells, chorionic villi, and fibroblasts)
• CSF total protein
• MRI of the head
• CT of the head
• nerve conduction velocity showing delayed nerve conduction and evidence of demyelination
• slit-lamp exam