Van der Knaap disease

Authors

  • Manoj Kumar Mahata Department of Neurosurgery, Hyogo College of Medicine, Japan
  • Saikat Ghosh Consultant Neurologist, Monorama Hospital, West Bengal, India
  • K. C. Ghosh Department of Neuromedicine, Calcutta National Medical College, Kolkata, West Bengal, India
  • R. Bhattacharya Department of Neuromedicine, Calcutta National Medical College, Kolkata, India
  • G. P. Mondal Department of Neuromedicine, Calcutta National Medical College, Kolkata, India

DOI:

https://doi.org/10.18203/2320-6012.ijrms20194331

Keywords:

Leukodystrophy, Megalencephaly, Subcortical cysts, Van der Knaap

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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References

Singhal BS, Gursahani RD, Biniwale AA, Udani VP. Megalencephalic leukodystrophy in India. Abstract. 8th Asian and Oceanian Congress of Neurology, Tokyo, Japan. 1991.

Van der Knaap MS, Barth PG, Stroink H, van Nieuwenhuizen O, Arts WF, Hoogenraad F, et al. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol.1995;37(3):324-34.

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Published

2019-09-25

How to Cite

Mahata, M. K., Ghosh, S., Ghosh, K. C., Bhattacharya, R., & Mondal, G. P. (2019). Van der Knaap disease. International Journal of Research in Medical Sciences, 7(10), 3917–3919. https://doi.org/10.18203/2320-6012.ijrms20194331

Issue

Vol. 7 No. 10 (2019): October 2019

Section

Case Reports
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