Leucodystrophies are a group of white matter diseases caused by an abnormality in the formation or maintenance of one or more components of the myelin sheath. The devastating course of the disease coupled with the lack of any defi nitive treatment render them potentially fatal and incurable. Van der Knaap Syndrome, also known as megaloencephalic leucoencephalopathy with subcortical cyst, is a relatively new and rare entity. Although reported sporadically from Europe, Asia and the Agarwal community in India, there is practically no case report from the eastern part of India. We present a case of van der Knaap syndrome in an adult female with some atypical features.