Krabbe disease

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Overview

Symptoms

Treatment

Prevention

Krabbe disease

Alternative Names:

Globoid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylcereamidase deficiency
Symptoms:

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

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 levelsin white blood cells
CSF total protein (may be increased)
MRI of the head(the best test to reveal abnormal white matter of the brain)
Nerve conduction velocity (showing delayed nerve conduction and evidence of demyelination)
Genetic testing for mutations inthe galactosylceramidase gene (GALC)