Medullary thyroid carcinoma in a 2-month-old male with multiple endocrine neoplasia 2B and symptoms of pseudo-Hirschsprung disease: a case report.
作者： Annika Unruh , Guido Fitze , Ute Jänig , Stefan Bielack , Helmut Lochbühler
DOI: 10.1016/J.JPEDSURG.2007.05.015
关键词:
摘要: 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 a M918T mutation the RET protooncogene, early-onset medullary thyroid carcinoma (MTC). Therefore, total thyroidectomy central lymphadenectomy were performed at age 9 weeks. Histology showed microcarcinoma. This report MTC occurrence within first weeks life underlines importance early diagnosis in patients MEN 2B syndrome. Because many 2A B show gastrointestinal before development MTC, possibility 2 should be recognized, testing presence mutations included explorative megacolon.
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