Krabbe disease (globoid cell leukodystrophy)
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An infant with irritability and feeding difficulties develops progressive spasticity, blindness, and peripheral neuropathy. CSF protein is elevated.
AR; GALC (galactocerebrosidase)
- White matter disease (leukodystrophy)
- Infantile form: Irritability, spasticity, regression, death by 2 years
- Peripheral neuropathy (elevated CSF protein)
- On RUSP
- On RUSP: flagged by low galactocerebrosidase activity on newborn screening
- Deficient GALC enzyme activity is diagnostic, confirmed with GALC sequencing (including the common 30-kb deletion)
- Elevated psychosine (galactosylsphingosine) helps distinguish early-infantile disease from pseudodeficiency and predicts disease onset; elevated CSF protein and demyelinating neuropathy support the diagnosis
- HSCT if pre-symptomatic
"Eat Krab at the Gala": Krabbe is caused by deficiency of galactocerebrosidase (GALC). Contrast with Gaucher (glucocerebrosidase, "U" in same position).
"Kranium issues in Krabbe": the enzyme name contains "cerebro-," reminding you that neurologic symptoms dominate. "Kan't hear Krakles": deafness. "Klaw pokes your eye": blindness.
Globoid cells ("eat Globs of Krab"): multinucleated macrophages (globoid cells) are seen on histology.