DOI: http://dx.doi.org/10.18203/2320-6012.ijrms20194331

Van der Knaap disease

Manoj Kumar Mahata, Saikat Ghosh, K. C. Ghosh, R. Bhattacharya, G. P. Mondal

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.


Keywords


Leukodystrophy, Megalencephaly, Subcortical cysts, Van der Knaap

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References


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