A ganglioneuroma of the sigmoid colon presenting as leading point of intussusception in a child: a case report
ABSTRACT We present a case of intestinal ganglioneuroma (GN) of the sigmoid colon in a 5-year-old girl, which caused intermittent colocolic intussusception. Ganglioneuromas are rare benign tumors of the autonomic nervous system composed of mature ganglion cells and satellite cells. Colonic GNs are uncommon. The unusual intramural proliferation of neural elements in this case resembled the diffuse intestinal ganglioneuromatosis, which is known to be associated with multiple endocrine neoplasia type 2B. However, the specific mutations of multiple endocrine neoplasia type 2B were not found by genetic sequencing. This is the first pediatric case described in the literature of a solitary polypoid GN presenting as a colocolic intussusception. We present a brief overview of intestinal ganglioneuromatous lesions and associated conditions.
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ABSTRACT: Diffuse ganglioneuromatosis (DG) of the gastrointestinal tract is a rare condition that is closely associated with neurofibromatosis type 1 and multiple endocrine neoplasia type 2B. The occurrence of DG with multiple schwannomas, which, of the GI tract, usually affect the stomach, is considerably more rare. The present study describes the case of a 54-year-old male with indolent DG, principally involving the small intestine and colon, associated with multiple schwannomas in the subserosa. The patient was treated with surgery. A brief overview of intestinal ganglioneuromatous lesions and the associated conditions is additionally presented.Experimental and therapeutic medicine 03/2015; 9(3):733-736. DOI:10.3892/etm.2015.2212 · 0.94 Impact Factor
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ABSTRACT: Intussusception is a common cause of intestinal obstruction and colicky abdominal pain in the children, particularly infants, the commonest being the ileocolic variety with colocolic variety being a very rare entity. We present a case of colocolic intussusception in a 13-year-old boy which is otherwise seen in adults, precipitated by colonic malignancies. The patient presented with acute abdominal pain and bleeding perrectum with obstipation for 7 days. Preoperative USG abdomen was normal, and abdominal X-rays showed multiple air fluid levels. Intraoperative findings included a polypoidal growth in the descending colon as the leading point with the formation of a colo-colic intussusception. Following reduction and segmental resection, histopathology reported mucinous adenocarcinoma of colon which is also a rarity in pediatric age group. This case has been compared with previous cases reported in the literature.02/2013; 2013:106831. DOI:10.1155/2013/106831
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ABSTRACT: A 7 year old male with a history of congenital neutropenia and growth hormone deficiency presented with abdominal pain, fevers, and diarrhea. Imaging and endoscopy revealed significant inflammation of the ascending colon with stenosis at the level of the hepatic flexure. A right hemicolectomy was performed, and pathologic findings were consistent with diffuse intestinal ganglioneuromatosis. Due to recurrent mass effect at the intestinal anastomotic site detected radiologically, a second intestinal resection was performed 7months later. Genetic testing was negative for mutations in the RET protooncogene, NF1 and PTEN tumor suppressor genes. We report a case of diffuse intestinal ganglioneuromatosis in a child with congenital neutropenia.Journal of Pediatric Surgery 05/2013; 48(5):1129-1133. DOI:10.1016/j.jpedsurg.2013.03.066 · 1.31 Impact Factor