title: Hypothalamic failure as a sequela of heterozygous protein C deficiency?
abstract: 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.
authors.affiliation: Department of Paediatrics, Children's University Hospital, Munich, Federal Republic of Germany.
authors.forename: S
authors.initials: S
authors.lastname: Schmitt
authors.forename: K
authors.initials: K
authors.lastname: Auberger
authors.forename: T
authors.initials: T
authors.lastname: Fendel
authors.forename: W
authors.initials: W
authors.lastname: Kiess
mesh_terms: D000293:Adolescent; D001778:Blood Coagulation Disorders / Q000097:blood / Q000150:complications*; D001780:Blood Coagulation Tests; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D006128:Growth / Q000502:physiology; D006801:Humans; D007027:Hypothalamic Diseases / Q000209:etiology* / Q000473:pathology / Q000503:physiopathology; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D020151:Protein C Deficiency