Gardner syndrome: A case report

Abstract

BACKGROUND Gardner syndrome (GS) is a rare autosomal dominant hereditary disorder. Since GS often has multi-system involvement with diverse clinical manifestations, misdiagnosis is common. Herein we report a case of GS. CASE SUMMARY A 38 year-old women presented with intermittent abdominal distension, nausea, and vomiting for 15 mo, which was aggravated for 1 wk. Related tests showed gastrointestinal adenoma and multiple desmoid tumors in the abdominal wall and abdominal cavity, and gene sequencing confirmed the diagnosis of GS. The patient underwent endoscopic intestinal polypectomy and symptomatic treatment, and her symptoms were relieved. Later, the patient's symptoms recurred and became worse than before. Gastrointestinal anastomosis was performed, and the patient had no postoperative discomfort. Finally, her condition improved. CONCLUSION The clinical manifestations of GS are varied, and the appearance of extraenteral manifestations before intestinal polyps is very important for the early identification of such patients, so as to achieve early treatment and improve the prognosis.