Van der Knaap disease
Article
| IMSEAR
| ID: sea-211681
ABSTRACT
Van der Knaap disease is a rare form of leukodystrophy, phenotypically characterized by megalencephaly, early-onset ataxia, pyramidal features, cognitive impairment, with an autosomal recessive inheritence. MRI Brain shows T1 and FLAIR hypointense subcortical cysts in mostly temporal lobes and in fronto-parietal subcortical areas. Authors report a 20 yr. girl with typical features.
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Index:
IMSEAR (South-East Asia)
Year:
2019
Type:
Article
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