AI Article Synopsis
- Two siblings with neonatal Hirschsprung's disease were diagnosed with isolated familial medullary carcinoma of the thyroid at ages 16 and 19.
- Rectal biopsies confirmed Hirschsprung's disease, showing no ganglion cells and excess nerve fibers, while total thyroidectomies revealed bilateral medullary carcinoma.
- This case is the first documented link between Hirschsprung's disease and familial medullary carcinoma, suggesting Hirschsprung's may signal an early form of the thyroid cancer or part of multiple endocrine neoplasia syndromes.
Article Abstract
We present two siblings with neonatal Hirschsprung's disease in whom isolated familial medullary carcinoma of the thyroid was diagnosed at the age of 16 and 19 years. Rectal biopsy in each patient revealed total absence of ganglion cells in the myenteric plexus and hypertrophied nerve fibers characteristic of Hirschsprung's disease. Both underwent total thyroidectomy and histological examination revealed bilateral and multifocal medullary carcinoma of the thyroid. These two patients belong to a large family in whom another 12 affected members with medullary carcinoma of the thyroid were found. Our description is the first report of an association between Hirschsprung's disease and isolated familial medullary carcinoma of the thyroid. We suggest that familial occurrence of Hirschsprung's disease could be an early presentation of familial medullary carcinoma of the thyroid either as the isolated form or as part of multiple endocrine neoplasia type IIa or IIb.
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| http://dx.doi.org/10.1515/jpem.1994.7.4.373 | DOI Listing |
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