Siblings with Van Der Knaap Disease - An Atypical Presentation

Dr. Smrati Jain, Dr. Akanksha D Srivastava

Abstract: Van Der Knaap Disease, or megalencephalic leukoencephalopathy with subcortical cysts (MLC), is a rare autosomal recessive leukodystrophy typically linked to consanguinity and specific ethnic groups. This case report presents two siblings from a non-consanguineous family in Lucknow, India, diagnosed with MLC, highlighting an atypical presentation. An 8-year-old girl exhibited macrocephaly, seizures, and motor regression, while her asymptomatic 3-year-old sister showed characteristic MRI findings of subcortical cysts. These cases underscore the importance of early MRI screening in children with macrocephaly, even in the absence of consanguinity, and emphasize the need for genetic counseling to inform at-risk families. This report adds to the limited literature on MLC?s diverse clinical spectrum and advocates for heightened diagnostic awareness.

Keywords: Van Der Knaap Disease, megalencephalic leukoencephalopathy, subcortical cysts, macrocephaly, genetic counseling