6533b7d2fe1ef96bd125f814

RESEARCH PRODUCT

Medullary thyroid carcinoma in a 2-month-old male with multiple endocrine neoplasia 2B and symptoms of pseudo-Hirschsprung disease: a case report

Stefan S. BielackHelmut LochbühlerGuido FitzeUte JänigWiltrud CoerdtAnnika Unruh

subject

Malemedicine.medical_specialtyPathologyendocrine system diseasesMedullary cavitymedicine.medical_treatmentRectumMultiple Endocrine Neoplasia Type 2bGastroenterologyThyroid carcinomaInternal medicineDiseases in TwinsHumansMedicineHirschsprung DiseaseThyroid NeoplasmsMultiple endocrine neoplasiaMegacolonbusiness.industryProto-Oncogene Proteins c-retThyroidectomyInfantGeneral MedicineAbdominal distensionmedicine.diseasemedicine.anatomical_structureCarcinoma MedullaryPediatrics Perinatology and Child HealthFailure to thriveThyroidectomySurgerymedicine.symptombusiness

description

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.

yearjournalcountryeditionlanguage
2007-09-01Journal of Pediatric Surgery
https://doi.org/10.1016/j.jpedsurg.2007.05.015