Van Der Knaap Disease in a 3-year-old Male Child: A Case Report

  • Imran Mahmood Khan Associate Professor, Pediatric Department, Islamabad Medical and Dental College, Islamabad Pakistan
  • Asma Shabbir Associate Professor, Pediatric Department, Fazaia Medical College, Islamabad, Pakistan
  • Sadaf Naz Consultant Radiologist, Radiology Department, Islamabad Diagnostic Center, Islamabad, Pakistan
  • Rubina Zulfqar Professor, Pediatric Department, Islamabad Medical and Dental College, Islamabad, Pakistan
DOI: https://doi.org/10.35787/jimdc.v9i2.537
Keywords: Degenerative brain disease, Leukodystrophy, Macrocephaly, Megalencephaly, Subcortical cysts, Van der Knaap disease

Abstract

Van der Knaap disease or megalencephalic leukoencephalopathy with subcortical cysts is a leukodystrophy with autosomal-recessive inheritance caused by mutation in the gene MLC1 which is localized on chromosome 22q. It is characterized by macrocephaly, motor developmental delay, seizures, spasticity, ataxia, and mild mental deterioration. On neuroimaging, involvement of cerebral white matter along with subcortical cysts in frontal and temporal lobes are hallmarks of the disease. There is no definite treatment of this disease. We report a case of Van Der Knaap disease in a 3-year-old male child who presented with seizures and delayed developmental milestones.

Published
2020-06-29
Issue
Vol 9 No 2 (2020): April-June
Section
Case Reports

Copyright (c) 2020 Journal of Islamabad Medical & Dental College

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This is an Open Access article distributed under the terms of the Creative Commons Attribution-Non Commercial License (http://creativecommons.org/licenses/by-nc/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.