A CADASIL Case Presenting with Progressive Bulbar Palsy Caused by Acute Simultaneous Multiple Subcortical Infarcts

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an adult-onset inherited small vessel disease of the brain caused by NOTCH3 mutations. Clinical characteristics of CADASIL include recurrent infarctions, migraine with aura, mood disturbances and cognitive impairment. We report a 35 year-old migraine-free patient with unusual presentation with acute simultaneous multiple subcortical infarctions causing progressive bulbar palsy as the initial manifestation. Hepresented with slurred speech progressing to anarthria and bilateral palsy of lower motor cranial nerves within 24 hour. Initial acute subcortical infarcts enlarged and new infarcts developed in bilateral hemispheres. There was diffuse leukoencephalopathy involving temporal horns and the patient had positive familiy history of migraine and young stroke. CADASIL was diagnosed genetically when NOTCH3 mutationwas shown. The patient improved after treatment with liquid hydration and antiplatelet agent. We experienced with the patient that CADASIL may present with unusual progressive manifestations and bilateral simultaneous infarctions. Irrespective of clinical presentation, patients with leukoencephalopathy and positive familiy history should be tested for NOTCH3 mutation.