Vacuolating Megalencephalic Leukoencephalopathy with Subcortical Cysts (Van der Knaap Leukoencephalopathy): A Case Diagnosed in Adulthood

Gul G., Eren F., Ozay G., Kirbas D.

TURKISH JOURNAL OF NEUROLOGY, vol.21, pp.165-167, 2015 (Journal Indexed in ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 21 Issue: 4
  • Publication Date: 2015
  • Doi Number: 10.4274/tnd.32757
  • Page Numbers: pp.165-167


Van der Knaap leukoencephalopathy is a rare vacuolating megalencephalic leukoencephalopathy with subcortical cysts. It is inherited autosomal recessively with MLC1 and GlialCAM mutations. The disease is usually diagnosed in the patient's first years of childhood and symptoms are severe in adulthood. In this case, a male patient aged 35 years presented with pathologic cerebellar and pyramidal findings. Magnetic resonance imaging revealed bilateral cystic degeneration in the anterior temporal lobes, swelling in the supratentorial white matter, and abnormal signal. There were no pathologic findings in the differential diagnosis tests. The patient was diagnosed as having Van der Knaap leukoencephalopathy according to the clinical and radiologic findings.