Hypothalamic failure as a sequela of heterozygous protein C deficiency?
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S Schmitt1, K Auberger, T Fendel
1Department of Paediatrics, Children's University Hospital, Munich, Federal Republic of Germany.
Insights
Protein C deficiency can cause blood clots in the brain and other organs. This case study suggests a link between protein C deficiency and hypothalamic insufficiency, highlighting the need to investigate anticoagulant disorders in such patients.
Area of Science:
- Endocrinology
- Hematology
- Neurology
Background:
- Protein C deficiency is a known risk factor for thrombo-embolic events.
- Cerebrovascular occlusive disease can result from impaired anticoagulant function.
- Hypothalamic insufficiency presents with a complex set of hormonal and neurological symptoms.
Observation:
- A patient with suspected heterozygous protein C deficiency (type 1) experienced multiple thrombo-embolic events.
- The patient exhibited symptoms of hypothalamic failure, including hypernatraemia, hypodipsia, hypersomnolence, hyperkapnia, obesity, hyperprolactinaemia, hypogonadotropic hypogonadism, and growth hormone deficiency.
Findings:
- The study hypothesizes that protein C deficiency led to cerebrovascular occlusions.
- These occlusions are suspected to have caused secondary hypothalamic insufficiency in the patient.
Implications:
- This case suggests a potential etiological link between protein C deficiency and unexplained hypothalamic disease.
- Screening for disorders of the anticoagulant system is recommended for patients presenting with unexplained hypothalamic dysfunction.
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.