Early diagnosis and thyroidectomy in multiple endocrine neoplasia, type 2b.
Medullary thyroid carcinoma is a feature of multiple endocrine neoplasia, type 2b (MEN 2b). The cancer frequently gives rise to metastases in early life and is therefore often incurable by age 4 years. Because MEN 2b frequently appears as a spontaneous mutation, and because the characteristic phenotypic features are absent in the early life of most affected patients, both MEN 2b and its medullary thyroid cancer may elude diagnosis for years. Total thyroidectomy is the only established treatment for medullary thyroid carcinoma. The timing of thyroidectomy must take into account risks and benefits in small children, but the operation may well not cure after age 4 years. Thyroidectomies in two of our patients were accomplished at ages 2 and 2 1/2 years; no complications were encountered, and no metastatic disease was found in either child. Feeding difficulties--poor suck to the point of failure to thrive--were present in the neonatal periods of seven of our nine patients who had MEN 2b. Infants with feeding difficulties should be examined periodically for the onset of pathognomonic features of MEN 2b, particularly the ganglioneuromas, which usually appear before age three years.
D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000175:diagnosis; D000328:Adult; D002277:Carcinoma / Q000175:diagnosis / Q000517:prevention & control* / Q000601:surgery; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009377:Multiple Endocrine Neoplasia / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D010673:Pheochromocytoma / Q000175:diagnosis; D013964:Thyroid Neoplasms / Q000175:diagnosis / Q000517:prevention & control* / Q000601:surgery; D013965:Thyroidectomy