Schmitt S, Auberger K, Fendel T, Kiess W
Department of Paediatrics, Children's University Hospital, Munich, Federal Republic of Germany.
Eur J Pediatr. 1992 Jun;151(6):428-31. doi: 10.1007/BF01959356.
Protein C deficiency can lead to cerebrovascular occlusive disease. We describe a patient in whom heterozygous protein C deficiency (type 1) is suspected on the grounds of reduced protein C activity and who suffered from multiple thrombo-embolic events involving the brain and peripheral organs. The patient developed hypothalamic failure with hypernatraemia, hypodipsia, hypersomnolence and hyperkapnia, obesity, hyperprolactinaemia, hypogonadotropic hypogonadism and growth hormone deficiency. We hypothesize that protein C deficiency caused cerebrovascular occlusions which eventually led to hypothalamic insufficiency in this patient. Disorders of the anticoagulant system should be looked for in patients with unexplained hypothalamic disease.
蛋白C缺乏可导致脑血管闭塞性疾病。我们描述了一名患者，基于蛋白C活性降低怀疑其存在杂合子蛋白C缺乏（1型），该患者发生了涉及脑和外周器官的多次血栓栓塞事件。该患者出现了下丘脑功能衰竭，伴有高钠血症、低渴感、嗜睡和高碳酸血症、肥胖、高催乳素血症、低促性腺激素性性腺功能减退和生长激素缺乏。我们推测蛋白C缺乏导致了脑血管闭塞，最终致使该患者出现下丘脑功能不全。对于患有不明原因下丘脑疾病的患者，应排查抗凝系统紊乱情况。
