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Krabbe Disease in Adults
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Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive lysosomal storage disease caused by mutations in the lysosomal galactocerebrosidase (galactosyl ceramidase) gene. Krabbe disease usually presents as a severe leukodystrophy in early infancy and childhood. In contrast, adult patients usually present with progressive spastic paraparesis. Other signs of the disease include peripheral neuropathy, dysarthria, cerebellar ataxia, pes cavus deep sensory signs, tongue atrophy, optic neuropathy, cognitive decline. Cerebrospinal fluid protein concentration is moderately increased in adults. High signals of cortico-spinal tracts on brain MRI are highly suggestive and this typical aspect may be associated with hyper-intensities of optic radiations, and of the posterior part of the corpus callosum.
Title: Krabbe Disease in Adults
Description:
Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive lysosomal storage disease caused by mutations in the lysosomal galactocerebrosidase (galactosyl ceramidase) gene.
Krabbe disease usually presents as a severe leukodystrophy in early infancy and childhood.
In contrast, adult patients usually present with progressive spastic paraparesis.
Other signs of the disease include peripheral neuropathy, dysarthria, cerebellar ataxia, pes cavus deep sensory signs, tongue atrophy, optic neuropathy, cognitive decline.
Cerebrospinal fluid protein concentration is moderately increased in adults.
High signals of cortico-spinal tracts on brain MRI are highly suggestive and this typical aspect may be associated with hyper-intensities of optic radiations, and of the posterior part of the corpus callosum.
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