Author(s):
1. Imran Mahmood Khan:
Pediatric Department, Islamabad Medical and Dental College, Islamabad, Pakistan
2. Asma Shabbir:
Pediatric Department, Fazaia Medical College, Islamabad, Pakistan
3. Sadaf Naz:
Radiology Department, Islamabad Diagnostic Center, Islamabad, Pakistan
4. Rubina Zulfqar:
Department, Islamabad Medical and Dental College, Islamabad, Pakistan
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.
Page(s):
145-148
DOI:
DOI not available
Published:
Journal: Journal of Islamabad Medical & Dental College, Volume: 9, Issue: 2, Year: 2020
Keywords:
Macrocephaly
,
Degenerative brain disease
,
Leukodystrophy
,
Megalencephaly
,
Vander
,
Subcortical cysts
References:
References are not available for this document.
Citations
Citations are not available for this document.