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

Abstract

INTRODUCTIONRett syndrome is a progressive neurodevelopment disorder in which MECP gene mutations are responsible and might be related to cancer.PRESENTATION OF CASEA 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.DISCUSSIONRett 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.CONCLUSIONRett syndrome patients need a high level of concern for gastrointestinal emergencies with cancer risk.

Severe changes in colon epithelium in the Mecp2-null mouse model of Rett syndrome

“…RTT patients have a high incidence of symptoms affecting the lower section of the gastrointestinal tract like gastroparesis, chronic constipation, and gastric and intestinal perforations, mainly [7]. The first report of a RTT patient affected by colon cancer urges the understanding of the impact of MECP2 inactivation on epithelial cell function and intestinal physiology [8]. …”

Primary cutaneous malignant melanoma in Rett syndrome: Report of a case with nuclear features resembling herpes simplex virus cytopathic effects—a hitherto unrecognized morphological variant

“…There are limited options for treatment and most of these are based around symptom relief 5 . Malignancy in patients with RTT is documented in rare case reports, 3 although recent studies have described an additional role for MECP2 during carcinogenesis 6,7 . As far as we are aware, melanoma in RTT has never been reported previously.…”

“…Since its discovery over two decades ago, it has been implicated in pathological conditions linked with Rett syndrome (RTT) 1 and other disorders including autism, neonatal encephalopathy, and X‐linked retardation 2 . Cancers in patients with RTT have been occasionally documented, 3 and mutations in MECP2 gene are thought to be associated with breast, colon, and prostate cancers 2 . We describe herein a patient with RTT who presented with a subungual melanoma.…”

Colon cancer presented with sigmoid volvulus: A case report

“…In our literature survey two reported simultaneous cases of SV and sigmoid colon cancer were found [26] , [27] . This presented case is the third one in which Sigmoid colon cancer is presented with SV.…”