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  • Title: Late juvenile-onset Krabbe's disease.
    Author: Baker RH, Trautmann JC, Younge BR, Nelson KD, Zimmerman D.
    Journal: Ophthalmology; 1990 Sep; 97(9):1176-80. PubMed ID: 2234850.
    Abstract:
    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.
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