Unusual Case of Van Der Knaap’s Disease Presenting at 2 Years of Age Following Head Trauma

Abstract

Megaloencephalic leucoencephalopathy with subcortical cysts (MLC) (Van Der Knaap Disease) is an entity of neurodegenerative disease characterized by infantile-onset megalencephaly, cerebral leukoencephalopathy, and a delayed on set of slowly progressive neurologic dysfunction. MLC is distinguished from other leucoencephalopathies by its remarkably slow course of neurologic deterioration. Infantile onset macrocephaly is characteristic. Age of onset varies from birth to 25 years, with median age of 6 months. [1] We report a case of 23 months old male child with a history of fall followed by an episode of seizure and vomiting. The patient underwent a non-contrast CT scan that showed prominent bilateral cortical hypodense white matter. Further imaging with MRI was indicated to rule out white matter disease.