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.

journal_name

Eur J Pediatr

authors

Schmitt S,Auberger K,Fendel T,Kiess W

doi

10.1007/BF01959356

keywords:

subject

Has Abstract

pub_date

1992-06-01 00:00:00

pages

428-31

issue

6

eissn

0340-6199

issn

1432-1076

journal_volume

151

pub_type

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