Van der Knaap disease


  • 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



Leukodystrophy, Megalencephaly, Subcortical cysts, Van der Knaap


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.


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.

Cavalcanti CE, Nogueira A. Van Der Knaap syndrome. Megalencephaly with leukodystrophy. Report of cases in the same family. Arq Neuropsiquiatr. 2000;58(1):157-61.

Topçu M, Gartioux C, Ribierre F, Yalçinkaya C, Tokus E, Oztekin N, et al. Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22 qtel. Am J Hum Genet. 2000;66(2):733-9.

Gorospe JR, Singhal BS, Kainu T, Stephan WD, Trent J, Hoffman EP, et al. Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation. Neurology. 2004;62(6):878-82.

Sener RN. Demonstration of glycine peaks at 3.50ppm in a patient with Van der Knapp syndrome. AJNR Am Neuroradiol. 2001;22(8):1587-9.

Singhal BS, Gorospe JR, Naidu S. Megalencephalic leukoencephalopathy with subcortical cysts. J Child Neurol. 2003;18(9):646-52.

Singhal BS, Gursahani RD, Udani VP, Biniwale AA. Megalencephalic leukodystrophy in an Asian Indian ethnic group. Pediatr Neurol. 1996;14(4):291-6.

Ilja Boor PK, Groot K, Mejaski-Bosnjak V, Brenner C, van der Knaap MS, Scheper GC. et al. Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1. Hum Mutat. 2006;27(6):505-12.




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.



Case Reports