Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (Van Der Knaap leukoencephalopathy):  A case diagnosed in adulthood

Günay Gül; Fulya Eren; Gönül Özay; Dursun Kırbaş

doi:10.4274/tnd.32757

Günay Gül¹, Fulya Eren¹, Gönül Özay³, Dursun Kırbaş²

¹Bakirkoy Prof. Dr. Mazhar Osman Research and Training Hospital for Neuropsychiatry, 3rd Neurology Clinic
²Cerrahpasa Faculty of Medicine, Department of Forensic Medicine
³Erenkoy Research and Training Hospital for Neuropsyciatry, Neurology Clinic

Keywords: van der knaap leukoencephalopathy, vacuolating megalencephalic leukoencephalopathy, macrocephaly

Abstract

Van der Knaap leukoencephalopathy, is a rare vacuolating megalencephalic leukoencephalopathy with subcortical cysts. It is inherited autosomal recessively with MLC1 and GlialCAM mutation. Patients are usually diagnosed in the first years of childhood and the symptoms are severe in adulthood. In this case, 35 year old male patient is presented with pathological cerebellar and pyramidal findings. Magnetic resonance imaging of the patient revealed cystic degeneration in bilateral anterior temporal lobes, swelling in the supratentorial white matter and abnormal signal. There was no pathological findings in the tests that were performed for differential diagnosis. Patient was diagnosed as Van der Knaap leukoencephalopathy according to the clinical and radiological findings.