Van der Knaap Syndrome: Rare Case with an Atypical Presentation: A Case Report

Abstract

Megalencephalic leukoencephalopathy with subcortical cysts, Van der Knaap Disease, is an autosomal recessive disorder seen in populations where consanguinity is common. It is a slowly progressive neurodegenerative disorder with infantile megalencephaly, neurological symptoms like ataxia and seizures and leukoencephalopathy. Prevalence is less than 1 in 1,000,000. Predisposed populations are the Libyan Turks, Egyptians, Jews and the Agrawal community of India. Here we present a case of a macrocephalic 4 month old female with infantile seizures with follow up at 8 months of age, having typical MRI findings of Van der Knaap disease and symptomatic worsening after meningitis. The case presented being of a non Agrawal family in India and born of a non consanguineous marriage is an atypical and rare presentation, indicating that the syndrome may be seen in other communities as well. Keywords: Megalencephalic leucoencephalopathy, vanishing white matter, Van der Knaap, neuroradiology, subcortical cysts, macrocephaly, developmental delay, ataxia, myelination, autosomal recessive, genetics, seizure, magnetic resonance imaging, magnetic resonance spectroscopy, brain