Teaching neuroimages: a prematurely aging patient presenting with severe leukoaraiosis and stroke.

A 27-year-old woman presented with sudden onset left-sided numbness and double vision. In the last 10 years, she developed diabetes mellitus, cataract, osteoarthritis, osteoporosis, benign neoplasm of the skull, epilepsy, and nonscarring alopecia. Her parents were first-degree relatives and there were no relatives with similar disease. On examination there were right internuclear ophthalmoplegia, short stature, tight skin, hyperkeratosis (figure 1), cataract, and mild cognitive impairment. Brain MRI disclosed acute brainstem ischemic infarct and severe leukoaraiosis with multiple old lacunar infarcts secondary to small-vessel disease (figure 2). Antinuclear antibodies and anticardiolipin and lupus anticoagulant antibodies were normal or negative. Genetic testing was not available. The patient presents with 5 cardinal and 3 minor features of Werner syndrome, which is an unusual autosomal recessive inherited disorder caused by mutations in the WRN gene on chromosome 8.1 It encodes a protein with helicase and exonuclease activities, absence of which leads to abnormalities in several DNA repair and processing pathways. Werner syndrome is the most common adult-onset progeria. The disease is characterized by premature aging and propensity for cancer.1 Werner syndrome is an uncommon cause of stroke, but it should be considered in young patients with premature aging.2