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 language||English (US)|
|Number of pages||5|
|State||Published - Jan 1 1990|
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