title: Rett syndrome with colon cancer presented with sigmoid volvulus: Report of a case.
abstract: BACKGROUND
  Rett syndrome is a progressive neurodevelopment disorder in which MECP gene mutations are responsible and might be related to cancer.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
  
  
  CONCLUSIONS
  Rett syndrome patients need a high level of concern for gastrointestinal emergencies with cancer risk.
authors.affiliation: Kocaeli University, School of Medicine, Department of General Surgery, Kocaeli, Turkey. Electronic address: utku.yilmaz@kocaeli.edu.tr.
authors.forename: Tonguç Utku
authors.initials: TU
authors.lastname: Yilmaz
authors.affiliation: Kocaeli University, School of Medicine, Department of General Surgery, Kocaeli, Turkey.
authors.forename: Abdullah
authors.initials: A
authors.lastname: Güneş
authors.affiliation: Kocaeli University, School of Medicine, Department of General Surgery, Kocaeli, Turkey.
authors.forename: Gökhan
authors.initials: G
authors.lastname: Pösteki
authors.affiliation: Kocaeli University, School of Medicine, Department of General Surgery, Kocaeli, Turkey.
authors.forename: Erdem
authors.initials: E
authors.lastname: Okay
keywords: Colon cancer; Rett syndrome; Sigmoid volvulus
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