title: Diffuse intestinal ganglioneuromatosis in a child.
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 7 months 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.
authors.affiliation: Department of Pediatric Surgery, Nationwide Children's Hospital, Ohio State University College of Medicine, Columbus, OH 43205, USA.
authors.forename: Mika A B
authors.initials: MA
authors.lastname: Matthews
authors.forename: Brent H
authors.initials: BH
authors.lastname: Adler
authors.forename: Michael A
authors.initials: MA
authors.lastname: Arnold
authors.forename: Soma
authors.initials: S
authors.lastname: Kumar
authors.forename: Ryan
authors.initials: R
authors.lastname: Carvalho
authors.forename: Gail E
authors.initials: GE
authors.lastname: Besner
mesh_terms: D000714:Anastomosis, Surgical; D002648:Child; D003082:Colectomy; D003092:Colitis / Q000175:diagnosis / Q000209:etiology; D003110:Colonic Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004393:Dwarfism, Pituitary / Q000150:complications / Q000235:genetics; D005729:Ganglioneuroma / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D007078:Ileal Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D008297:Male; D018814:Multiple Endocrine Neoplasia Type 2b / Q000175:diagnosis / Q000235:genetics; D009378:Neoplasms, Multiple Primary / Q000175:diagnosis* / Q000235:genetics; D009503:Neutropenia / Q000150:complications / Q000151:congenital* / Q000235:genetics; D012008:Recurrence
chemical_list: D019382:Human Growth Hormone; D005952:Glucose-6-Phosphatase; C492193:G6PC3 protein, human