Developmental Delay and Macrocephaly Unraveling a Leukodystrophy: A Case Report

An uncommon inherited autosomal recessive disorder, Van der Knaap disease is also referred to as megalencephalic leukoencephalopathy with subcortical cysts (MLC). Megalencephaly, which either develops at birth or during infancy, along with seizures and a mild motor development delay, is its defining characteristic. Leukodystrophy and subcortical cystic degeneration are the two MRI abnormalities that are indicative of the illness and typically provide the key to diagnosis. The disease is more common in certain ethnicities, like the Aggarwal community in India, where marriages within the community are common. Here, we describe an Indian patient from a non-Aggarwal community born out of a non-consanguineous marriage who had Van der Knaap disease with the typical MRI features.