Krabbe disease in monozygotic triplets.
The authors report an extremely rare case of monozygotic triplets with globoid cell leukodystrophy (Krabbe disease). Born to healthy, non-related, heterozygous parents, all three girls presented with typical signs of beta-galactocerebrosidase deficiency before one year of age and died within the first 41 months of life. The literature is briefly reviewed.
Arroyo
H A
HA
Neurology Unit, Ricardo Gutierrez Children's Hospital, Buenos Aires, Argentina.
Grippo
J
J
Taratuto
A
A
Duffau
J
J
Chamoles
N
N
D001706:Biopsy; D002540:Cerebral Cortex / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008854:Microscopy, Electron; D008870:Microtubules / Q000648:ultrastructure; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D010525:Peripheral Nerves / Q000473:pathology; D014310:Triplets / Q000235:genetics*