Thalamic stroke and congenital factor V deficiency.

Letters to the Editor will be published, if suitable, as space permits. They should not exceed 1,000 words (typed double-spaced) in length and may be subject to editing or abridgment. Since Owren's first description in 1947, 1 there have been several studies of congenital factor V deficiency associated with hemor-rhagic tendencies. This deficiency has also been associated six times with thrombotic complications. 2 " 4 We report here what we believe to be the first case of cerebral thrombotic stroke associated with this deficiency. A 20-year-old man was referred to our hospital because of an acute behavioral disorder. He previously had had an appendec-tomy and a traumatic lumbar hematoma. A congenital factor V deficiency was diagnosed before a tooth extraction. The patient suddenly presented with somnolence and confusion. Neurological examination showed a right-sided facial weakness, apathetic behavior, hypophonia, memory impairment, and moderate anomia. Cerebral computed tomography scan and magnetic resonance imaging showed a thalamic lacunar infarction in the territory of the left tuberothalamic artery. All cardiac investigations were normal, and the cerebrospinal fluid was normal. Doppler ultra-sound and cerebral vascular exploration by magnetic resonance imaging showed no abnormalities of the cervical arteries. The routine hematologic and biologic studies showed no inflammatory syndrome, but screening coagulation tests revealed a prolonged activated partial thromboplastin time and marked prolongation of prothrombin time. Determination of coagulation factor activities yielded normal results, while factor V activity was 18% (normal value >60%). The plasma concentrations of antithrombin III, protein C, protein S, and plasminogen were found to be normal. There were no antiphospholipid antibodies and no lupus antico-agulant. The patient was treated with antiplatelet agents, without complications. We investigated available members of the family and found three other relatives with the same deficiency: the patient's father (factor V activity, 45%), his brother (11%), and his sister (51%), none of whom had ever suffered from thromboembolic or hemor-rhagic events. The congenital factor V deficiency is usually responsible for hemorrhagic disorders. 1-5 The mode of inheritance seems to be autosomal recessive; only homozygous patients have hemophiliac-like hemorrhagic or thrombotic manifestations, while heterozy-gotes are usually asymptomatic. In 1965, Miller 2 reported the first thrombotic complication associated with a factor V activity under 20%. Since then, Reich et al 3 and Manotti et al 4 described similar cases with recurrent systemic venous thrombosis. Only one case, a brother of the propositus, with the same defect, had suffered from arterial thrombosis …