Late juvenile-onset Krabbe's disease.
Krabbe's disease is an autosomal recessive leukodystrophy characterized by a lack of galactocerebroside beta-galactosidase activity. In contrast to the classic early infantile-onset form of Krabbe's disease, less recognized, late-onset variants exist. The authors present a case of late juvenile-onset Krabbe's disease, including the associated magnetic resonance imaging (MRI) findings. Most patients with late-onset Krabbe's disease present with visual loss due to optic atrophy. Associated gait abnormalities and parental consanguinity should increase the clinician's suspicion that a child may have late-onset Krabbe's disease. Because of the prolonged survival in late-onset Krabbe's disease, the recent development of bone marrow transplantation for these patient makes diagnosis of this disorder particularly important.
Baker
R H
RH
Department of Ophthalmology, May Clinic, Rochester, MN 55905.
Trautmann
J C
JC
Younge
B R
BR
Nelson
K D
KD
Zimmerman
D
D
D000293:Adolescent; D016026:Bone Marrow Transplantation; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005698:Galactosylceramidase / Q000378:metabolism; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis* / Q000601:surgery; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D012867:Skin / Q000201:enzymology; D014792:Visual Acuity
D005698:Galactosylceramidase