title: Medullary thyroid carcinoma in a 2-month-old male with multiple endocrine neoplasia 2B and symptoms of pseudo-Hirschsprung disease: a case report.
abstract: A 5-week-old male patient was seen for symptoms suggestive of Hirschsprung disease (abdominal distension, failure to thrive, and explosive defecation). Rectum biopsies revealed an intestinal ganglioneuromatosis, which is usually associated with multiple endocrine neoplasia (MEN) syndrome type 2B. The ensuing molecular genetic analysis revealed a M918T mutation of the RET protooncogene, which is associated with early-onset medullary thyroid carcinoma (MTC). Therefore, total thyroidectomy and central lymphadenectomy were performed at the age of 9 weeks. Histology showed a medullary microcarcinoma. This report of MTC occurrence within the first weeks of life underlines the importance of early diagnosis and thyroidectomy in patients with MEN 2B syndrome. Because many patients with MEN 2A and B show gastrointestinal symptoms before the development of MTC, the possibility of MEN 2 should be recognized, and genetic testing for the presence of RET mutations should be included in the explorative diagnosis for megacolon.
authors.affiliation: Department of Pediatric Surgery, Klinikum Stuttgart, Olgahospital, 70176 Stuttgart, Germany. a.unruh@olgahospital.de
authors.forename: Annika
authors.initials: A
authors.lastname: Unruh
authors.forename: Guido
authors.initials: G
authors.lastname: Fitze
authors.forename: Ute
authors.initials: U
authors.lastname: Jänig
authors.forename: Stefan
authors.initials: S
authors.lastname: Bielack
authors.forename: Helmut
authors.initials: H
authors.lastname: Lochbühler
authors.forename: Wiltrud
authors.initials: W
authors.lastname: Coerdt
mesh_terms: D018276:Carcinoma, Medullary / Q000150:complications / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D004200:Diseases in Twins; D006627:Hirschsprung Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D018814:Multiple Endocrine Neoplasia Type 2b / Q000150:complications / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics; D013964:Thyroid Neoplasms / Q000150:complications / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D013965:Thyroidectomy
chemical_list: D051096:Proto-Oncogene Proteins c-ret