Open AccessVan Der Knaap Disease in a 3-year-old Male Child: A Case Report
Author(s) -
Imran Mahmood Khan,
Asma Shabbir,
Sadaf Naz,
Rubina Zulfqar
Publication year - 2020
Publication title -
journal of islamabad medical and dental college
Language(s) - English
Resource type - Journals
eISSN - 2707-0484
pISSN - 2227-3875
DOI - 10.35787/jimdc.v9i2.537
Subject(s) - macrocephaly , leukodystrophy , leukoencephalopathy , ataxia , white matter , disease , spasticity , megalencephaly , pediatrics , medicine , krabbe disease , psychology , neuroscience , pathology , magnetic resonance imaging , physical medicine and rehabilitation , radiology
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.