Late Juvenlle-onset Krabbe's Disease

R. H. Baker, J. C. Trautmann, B. R. Younge, K. D. Nelson, D. Zimmerman

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

Abstract

Krabbe's disease is an autosomal recessive leukodystrophy characterized by a lack of galactocerebroside β-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 patients makes diagnosis of this disorder particularly important.

Original languageEnglish (US)
Pages (from-to)1176-1180
Number of pages5
JournalOphthalmology
Volume97
Issue number9
DOIs
StatePublished - Jan 1 1990

ASJC Scopus subject areas

  • Ophthalmology

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