{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T18:22:35Z","timestamp":1791397355683,"version":"4.3.3"},"reference-count":18,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Gut"],"accepted":{"date-parts":[[1999,1,20]]},"published-print":{"date-parts":[[1999,7,1]]},"abstract":"<jats:p>Three infants, who presented with intestinal obstruction due to diffuse transmural intestinal ganglioneuromatosis, are described. Mutation analysis of exon 16 of the<jats:italic> RET<\/jats:italic>proto-oncogene revealed germline M918T and thus, a molecular diagnosis of multiple endocrine neoplasia type 2B (MEN 2B). Two infants developed medullary carcinoma of the thyroid. The third had a prophylactic thyroidectomy despite no obvious thyroid masses and normal calcitonin concentrations, but microscopic multifocal medullary carcinoma was found on histological examination. Early recognition of intestinal ganglioneuromatosis with germline<jats:italic>RET<\/jats:italic> M918T mutation in pseudo-Hirschsprung\u2019s disease is an indication for prophylactic thyroidectomy.<\/jats:p>","DOI":"10.1136\/gut.45.1.143","type":"journal-article","created":{"date-parts":[[2010,6,30]],"date-time":"2010-06-30T12:46:12Z","timestamp":1277901972000},"page":"143-146","source":"Crossref","is-referenced-by-count":82,"title":["Intestinal ganglioneuromatosis and multiple endocrine neoplasia type 2B: implications for treatment"],"prefix":"10.1136","volume":"45","author":[{"given":"V V","family":"Smith","sequence":"first","affiliation":[{"name":"aDepartment of Histopathology, Great Ormond Street Hospital and Institute of Child Health, London, UK, \n\nbDepartment of Gastroenterology, Great Ormond Street Hospital and Institute of Child Health, London, UK, \n\ncDana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Eng","sequence":"additional","affiliation":[{"name":"aDepartment of Histopathology, Great Ormond Street Hospital and Institute of Child Health, London, UK, \n\nbDepartment of Gastroenterology, Great Ormond Street Hospital and Institute of Child Health, London, UK, \n\ncDana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P J","family":"Milla","sequence":"additional","affiliation":[{"name":"aDepartment of Histopathology, Great Ormond Street Hospital and Institute of Child Health, London, UK, \n\nbDepartment of Gastroenterology, Great Ormond Street Hospital and Institute of Child Health, London, UK, \n\ncDana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1999,7,1]]},"reference":[{"key":"2025090714084643000_45.1.143.1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199609263351307"},{"key":"2025090714084643000_45.1.143.2","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(196808)22:2<293::AID-CNCR2820220206>3.0.CO;2-R"},{"key":"2025090714084643000_45.1.143.3","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197612022952304"},{"key":"2025090714084643000_45.1.143.4","unstructured":"Eng C Ponder BAJ (1998) Multiple endocrine neoplasia type 2 and medullary thyroid carcinoma. in Clinical endocrinology. ed Grossman A (Blackwell Science, Oxford), pp 635\u2013650."},{"key":"2025090714084643000_45.1.143.5","unstructured":"Smith VV (1992) Isolated intestinal neuronal dysplasia: a descriptive histological pattern or a distinct clinicopathological entity? 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