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
Keywords: Degenerative brain disease, Leukodystrophy, Macrocephaly, Megalencephaly, Subcortical cysts, Van der Knaap disease


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.

Case Reports