منابع مشابه
Unusual presentation of Lynch Syndrome
Lynch Syndrome/HNPCC is a syndrome of cancer predisposition linked to inherited mutations of genes participating in post-replicative DNA mismatch repair (MMR). The spectrum of cancer associated with Lynch Syndrome includes tumours of the colorectum, endometrium, ovary, upper gastrointestinal tract and the urothelium although other cancers are rarely described. We describe a family of Lynch Synd...
متن کاملUnusual presentation of the Conn\'s syndrome: a case report
Abstract A 26 -year- old woman presented with rhabdomyolysis secondary to severe hypokalemia. Hypertension and metabolic alkalosis could lead to the suspicion of primary aldosteronism, which was confirmed by a decreased plasma rennin, elevated plasma aldosterone levels and high aldosterone/rennin ratio additionally. Additionally adrenal computed tomography showed an adrenal tumour. Blood press...
متن کاملUnusual Presentation of Cushing's Syndrome
Introduction The relationship between endocrinology and psychiatry has attracted a good deal of attention of health professionals for obvious reasons. Endocrine disorders may some time be accompanied by prominent mental abnormalities. In most of the cases psychiatric abnormalities follows the manifestation of endocrine disorder though occassionally, individuals react in such a way that psychiat...
متن کاملSturge Weber Syndrome--unusual presentation. .
Sturge Weber Syndrome or encephalo-trigeminal angiomatosis is non-hereditary, congenital and rare disorder of unknown aetiology. It is characterised by vascular malformation with capillary venous angiomas involving face, eye and leptomeninges resulting in neurological and orbital manifestations. A case of 23 years old female presented with history of tonic-clonic convulsions, evidence of Port w...
متن کاملAtypical presentation of Lynch Syndrome: a case report
Background Hereditary Breast and Ovarian Cancer (HBOC) syndrome due to mutations in BRCA1 and BRCA2 is associated with an increase in risk for primarily breast cancer and ovarian cancer. Lynch syndrome (LS), due to mutations in MLH1, MSH2, MSH6, and PMS2 is typically associated with an increase in risk for chiefly colorectal cancer and endometrial cancer. Ovarian cancer risk is also increased i...
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ژورنال
عنوان ژورنال: Hereditary Cancer in Clinical Practice
سال: 2009
ISSN: 1897-4287
DOI: 10.1186/1897-4287-7-12