Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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February 13, 2014
Infantile Krabbe Disease (KD)
- Diagnosis suspected based on clinical and radiologic findings, with confirmation by lysosomal enzyme testing revealing a deficiency of galactocerebroside beta-galactosidase(GALC).
- KD, also known as ‘‘globoid’’ cells leukodystrophy. Autosomal recessive disorder involving chromosome 14(14q31), caused by a deficiency of GALC, that leads to accumulation of cytotoxic metabolite psychosine, resulting in demyelination due to apoptosis of myelin-forming cells.
- Clinical Presentation: Varies with patient age at onset. Infantile, late infantile, juvenile, and adult forms are recognized. The infantile form is the most common and manifests as hyperirritability, increased muscle tone, and fever. Disease progression is characterized by cognitive decline, myoclonus, opisthotonus, and nystagmus. Typically, KD is rapidly progressive and fatal.
- Key Diagnostic Features: CT performed during the initial stage may demonstrate symmetric high-attenuation foci in the thalami, caudate nuclei, corona radiata, posterior limbs of the internal capsule, and brainstem. The centrum semiovale, periventricular white matter, and deep gray matter demonstrate high signal intensity at T2WI.
- DDx: Gaucher disease, Niemann-Pick disease (NPD), GM1 gangliosidosis, metachromatic leukodystrophy (MLD), status marmolatus, and cerebral palsy
- Rx: Umbilical cord blood transplantation is the only available treatment, and is only effective before symptoms develop.
