Cerebral embolism from Libman-Sacks endocarditis.

Libman-Sacks endocarditis consists of aseptic valvular abnormalities, associated with systemic lupus erythematosus and antiphospholipid syndrome. Embolic ischaemic stroke is a possible clinical presentation. The authors present the case of a woman in her fourth decade who developed central facial palsy after several transient ischaemic attacks with visual loss. Cerebral imaging revealed multiple small ischaemic lesions in the right hemisphere. The transoesophagic echocardiogram showed mitral vegetations and she tested positive for antiphospholipid antibodies. She underwent mitral valve replacement for a mechanical prosthesis due to extensive valvular damage and started anticoagulation. The valve's microbiological exams were negative establishing the diagnosis of libman-sacks endocarditis. Endocarditis should be suspected with sequential cerebral ischaemia in patients of all ages. Valvular surgery is the mainstay of treatment in recurrent embolic events. Association with antiphospholipid antibodies is common yet a poor-known fact. The patient is currently asymptomatic on warfarin and aspirin, with a normal functioning mitral prosthesis.

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal recessive ataxia. We have now identified causative mutations in 15 families, which allows us to clinically define this entity by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein (AFP). Ten of the fifteen mutations cause premature termination of a large DEAxQ-box helicase, the human ortholog of yeast Sen1p, involved in RNA maturation and termination.