Van der Knaap disease: a case report

Authors

  • Younus Ramzan Department of Paediatrics, GB Pant Hospital GMC, Srinagar, Jammu and Kashmir, India
  • Syed Tariq Ahmed Bukhari Department of Paediatrics, GB Pant Hospital GMC, Srinagar, Jammu and Kashmir, India
  • Mohd Ashraf Department of Paediatrics, GB Pant Hospital GMC, Srinagar, Jammu and Kashmir, India
  • Umeair Farooq Kazime Department of Paediatrics, GB Pant Hospital GMC, Srinagar, Jammu and Kashmir, India
  • Asma Wani Department of Paediatrics, GB Pant Hospital GMC, Srinagar, Jammu and Kashmir, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20203661

Keywords:

Child, Consanguinity, Macrocephaly, Subcortical cysts

Abstract

Van der Knaap disease or megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare autosomal recessive degenerative disorder characterized by megalocephaly, cerebral leukoencephalopathy, and motor deterioration. Most cases reported with this disease are from our country India, belong to Agarwal community, who have high rates of consanguinity. We report a 4 and 1/2year old boy, with a history of delayed motor milestones, ataxia, increasing head circumference and abnormal body movements, who is belonging to the Bhat family of Handwara town of Kupwara district of Jammu and Kashmir, India.

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References

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Published

2020-08-25

How to Cite

Ramzan, Y., Bukhari, S. T. A., Ashraf, M., Kazime, U. F., & Wani, A. (2020). Van der Knaap disease: a case report. International Journal of Contemporary Pediatrics, 7(9), 1937–1939. https://doi.org/10.18203/2349-3291.ijcp20203661

Issue

Section

Case Reports