Rett syndrome with colon cancer presented with sigmoid volvulus: Report of a case

被引：8

作者：

Yilmaz, Tonguc Utku ^{[1
]}

Gunes, Abdullah ^{[1
]}

Posteki, Gokhan ^{[1
]}

Okay, Erdem ^{[1
]}

机构：

[1] Kocaeli Univ, Sch Med, Dept Gen Surg, Kocaeli, Turkey

来源：

INTERNATIONAL JOURNAL OF SURGERY CASE REPORTS | 2014年 / 5卷 / 09期

关键词：

Rett syndrome; Colon cancer; Sigmoid volvulus;

D O I：

10.1016/j.ijscr.2014.07.008

中图分类号：

R61 [外科手术学];

学科分类号：

摘要：

INTRODUCTION: Rett syndrome is a progressive neurodevelopment disorder in which MECP gene mutations are responsible and might be related to cancer. PRESENTATION OF CASE: A 22 year-old girl with Rett syndrome was hospitalized for abdominal distention and shock. Abdominal tenderness and distention were revealed in physical examination. Radiological investigations revealed sigmoid volvulus and colonic obstruction. Sigmoid volvulus, sigmoid colon perforation due to sigmoid cancer with liver metastasis were observed at laparotomy. Hartman procedure performed. The patient died on the second postoperative day. DISCUSSION: Rett syndrome has several gastrointestinal pathologies related with inadequate parasympathetic control. Genetic mutations in methyl-CpG-binding protein 2 (MECP2) which has role in several cancer mechanisms is the reason of Rett syndrome. Colon cancer with the underlying gastrointestinal pathologies complicated our case. CONCLUSION: Rett syndrome patients need a high level of concern for gastrointestinal emergencies with cancer risk. (C) 2014 The Authors. Published by Elsevier Ltd. on behalf of Surgical Associates Ltd. This is an open access article under the CC BY-NC-SA license.

引用

页码：577 / 579

页数：3

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