globoid leukodystrophy; Krabbe's leukodystrophy; galactosylceramide beta-galactosidase deficiency; galactosylceramidase deficiency
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Pathology
- galactocerebrosidase deficiency
- associated with absence of myelin
- perivascular clusters of multinucleated globoid cells seen in areas of demyelination contain galactosylceramide due to deficiency in galactosylceramidase
- progressive encephalopathy
Genetics
- autosomal recessive
- mutations in GALC
- atypical form associated with defects in PSAP saposin-A region
Clinical manifestations
- infants are normal at birth
- signs/symptoms begin at 3-6 months of age
- irritability
- fevers
- limb stiffness
- seizures
- feeding difficulties
- vomiting
- slowing of mental & motor development
- other sign/symptoms
- muscle weakness
- spasticity
- deafness
- optic atrophy &/or optic nerve enlargement
- blindness
- paralysis
- dysphagia
- there are also juvenile & adult-onset cases which have similar symptoms but slower progression
Laboratory
Differential diagnosis
Management
- umbilical cord stem cell transplantation from unrelated donors prior to development of overt symptoms[3]
- prognosis:
- in infants, generally fatal before age 2
- with late-onset disease, patients live longer
More general terms
References
- ↑ Textbook of Biochemistry with Clinical Correlations, 3rd ed., TM Devlin (ed), Wiley-Liss, NY 1992 pg 459
- ↑ Wikipedia: Krabbe disease http://en.wikipedia.org/wiki/Krabbe_disease
- ↑ 3.0 3.1 Escolar ML1, Poe MD, Provenzale JM et al Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. N Engl J Med. 2005 May 19;352(20):2069-81. PMID: https://www.ncbi.nlm.nih.gov/pubmed/15901860
- ↑ NINDS Krabbe Disease Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Krabbe-Disease-Information-Page
Patient information
globoid leukodystrophy patient information