[Cerebral infarct as a presentation of a hereditary defect of type II C protein].
The case of a 50 year-old patient with a cerebral infarct related to a deficit in type II C protein is described. The patient showed no other vascular risk factor and the cardiological study, which included a transthoracic and a transoesophagic echogram ruled out the presence of embologenic cardiopathy. A family study detected the presence of a deficit of C protein in 6 of the 8 sons and in the patient's sister who had a deep vein thrombosis at the age of 54. A hereditary deficiency in C protein was confirmed. We consider it necessary to perform hypercoagulability studies which include the determination of C protein in patients under 55 years of age with cerebral infarcts of unknown cause, especially when there is a family history of thrombosis.
Sempere
A P
AP
Sección de Neurología, Hospital General de Segovia, Madrid.
Fisac
R
R
Tahoces
L
L
Duarte
J
J
Ferrero
M
M
D001921:Brain / Q000503:physiopathology; D002544:Cerebral Infarction / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D011486:Protein C / Q000235:genetics; D020151:Protein C Deficiency; D014057:Tomography, X-Ray Computed
D011486:Protein C
Infarto cerebral como forma de presentación de un déficit hereditario de proteína C tipo II.