Case ReportInternational Journal of Research in Medical Sciences
Publication: Van der Knaap disease
Int J Res Med Sci. 2019;7(10):3917-3919.DOI10.18203/2320-6012.ijrms20194331
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
Affiliations
- Department of Neurosurgery, Hyogo College of Medicine, Japan
- Consultant Neurologist, Monorama Hospital, West Bengal, India
- Department of Neuromedicine, Calcutta National Medical College, Kolkata, West Bengal, India
- Department of Neuromedicine, Calcutta National Medical College, Kolkata, India