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.
"Pediatric colo-colic intussusception caused by malignancy has been reported rarely in the literature. Soccorso et al. reported a case of sigmoid colon ganglioneuroma in a 5-year-old child who presented with intermittent colocolic intussusception . Although the leading point in our case was grossly similar to that in other reported cases, the histopathology was different. "
[Show abstract][Hide abstract] 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.
[Show abstract][Hide abstract] ABSTRACT: Intestinal ganglioneuromatosis is a benign proliferation of nerve ganglion cells, nerve fibers, and supporting cells of the enteric nervous system (ENS) that can result in abnormally large enteric neuronal cells (ENCs) in the myenteric plexus and chronic intestinal pseudoobstruction (CIPO). As phosphatase and tensin homolog deleted on chromosome 10 (PTEN) is a phosphatase that is critical for controlling cell growth, proliferation, and death, we investigated the role of PTEN in the ENS by generating mice with an embryonic, ENC-selective deletion within the Pten locus. Mutant mice died 2 to 3 weeks after birth, with clinical signs of CIPO and hyperplasia and hypertrophy of ENCs resulting from increased activity of the PI3K/PTEN-AKT-S6K signaling pathway. Further analysis revealed that PTEN was only expressed in developing mouse embryonic ENCs from E15.5 and that the rate of ENC proliferation decreased once PTEN was expressed. Specific deletion of the Pten gene in ENCs therefore induced hyperplasia and hypertrophy in the later stages of embryogenesis. This phenotype was reversed by administration of a pharmacological inhibitor of AKT. In some human ganglioneuromatosis forms of CIPO, PTEN expression was found to be abnormally low and S6 phosphorylation increased. Our study thus reveals that loss of PTEN disrupts development of the ENS and identifies the PI3K/PTEN-AKT-S6K signaling pathway as a potential therapeutic target for ganglioneuromatosis forms of CIPO.
The Journal of clinical investigation 11/2009; 119(12):3586-96. DOI:10.1172/JCI39929 · 13.22 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Colocolonic intussusception is an uncommon cause of intestinal obstruction in children. The most common type is idiopathic ileocolic intussusception. However, pathologic lead points occur approximately in 5% of cases. In pediatric patients, Meckel's diverticulum is the most common lead point, followed by polyps and duplication. We present a case of recurrent colocolonic intussusception which caused colonic obstruction in a 10-year-old boy. A barium enema revealed a large polypoid mass at the transverse colon. Colonoscopy showed a colonic polyp, 3.5 centimeters in diameter, which was successfully removed by endoscopic polypectomy.
Min Young Yoo, Eun Seong Lee, Seok-ki Kim, Seog-Yun Park, Youngmee Kwon, Tak Yun, Tae Sung Kim
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