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How to diagnose and treat Gardner syndrome with gastric polyposis
May 21, 2008Gardner syndrome (GS) is a rare, autosomal, dominant inherited disorder with a high degree of penetrance characterized by the triad: intestinal polyposis and various bone and soft-tissue tumors. It is regarded as a clinical subgroup of familial adenomatous polyposis (FAP).
This case, reported by a team led by Dr. Shi-Lin Wang, is described in a research article to be published on April 7, 2008 in the World Journal of Gastroenterology.
A 23-year-old female presented with nausea, vomiting and mucous diarrhea with occasional blood in the stool, especially after dining. Colonoscopy delineated numerous polyps carpeting the entire colon and rectum, mostly in the sigmoid colon and rectum, which is consistent with the diagnosis of FAP. Gastroscopy delineated numerous polyps carpeting mainly the fundus ventriculi but also the corpus ventriculi. The patient was treated with restorative proctocolectomy with ileal pouch anal anastomosis (RPC/IPAA), ileostomy and ileostomy closure operations, and twice with snare polypectomy over an eight month period. The patient gradually recovered from innutrition and anemia.
It was reported that 25% of patients with GS had no family history; moreover the miniaturization of family also made the hereditary behavior unobvious. When faced with a patient with colorectal polypi in the clinic, doctors should pay attention to examining the patient's stomach, thyroid, tooth, skull and eye ground. The examination of APC and MYH mutation are helpful in diagnosing patients with GS and FAP.
World Journal of Gastroenterology
It was reported that 25% of patients with GS had no family history; moreover the miniaturization of family also made the hereditary behavior unobvious. When faced with a patient with colorectal polypi in the clinic, doctors should pay attention to examining the patient's stomach, thyroid, tooth, skull and eye ground. The examination of APC and MYH mutation are helpful in diagnosing patients with GS and FAP.
World Journal of Gastroenterology
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[1] MEDICINE: GENE THERAPY SETS THE PACE (pp132-133)
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