Van der Knaap disease

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ijrms2019v7n10p3917.pdf (103.28 KB)
Date
2019-10
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Volume Title
Publisher
Medip Academy
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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Keywords
Leukodystrophy, Megalencephaly, Subcortical cysts, Van der Knaap
Citation
Mahata Manoj Kumar, Ghosh Saikat, Ghosh K. C., Bhattacharya R., Mondal G. P.. Van der Knaap disease. International Journal of Research in Medical Sciences. 2019 Oct; 7(10): 3917-3919
URI
https://imsear.searo.who.int/handle/123456789/211681
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International Journal of Research in Medical Sciences