Diffuse intestinal ganglioneuromatosis in a child

Journal of Pediatric Surgery
Mika A B MatthewsGail E Besner

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.

References

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Jul 5, 2006·Seminars in Pediatric Neurology·James H Tonsgard
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Apr 17, 2012·Hereditary Cancer in Clinical Practice·Inga Melbārde-GorkušaEdvīns Miklaševičs

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Citations

Aug 15, 2013·Pediatric Surgery International·Florian Friedmacher, Prem Puri
May 17, 2019·Journal of Inherited Metabolic Disease·Carlota PascoalPaula A Videira
Sep 13, 2018·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Javier Robla CostalesDavid Robla Costales
Apr 1, 2021·Italian Journal of Pediatrics·Angela MauroGiovanni Di Nardo

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