International journal of surgery case reports · 2014
Rett syndrome with colon cancer presented with sigmoid volvulus: Report of a case.
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Yilmaz Tonguç Utku, Güneş Abdullah, Pösteki Gökhan, Okay Erdem
Аннотация
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.
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.