Multiple endocrine neoplasia type II B with symptoms suggesting Hirschsprung's disease: a case report
| Autor: | A. James McAdams, Fredrick C. Ryckman, Marguerita Torres, Samuel M. Mahaffey, Lester W. Martin |
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| Rok vydání: | 1990 |
| Předmět: |
medicine.medical_specialty
Pathology Constipation Gastroenterology Diagnosis Differential Internal medicine medicine Humans Hirschsprung Disease Thyroid Neoplasms Multiple endocrine neoplasia Hirschsprung's disease Chronic constipation Megacolon business.industry Multiple Endocrine Neoplasia General Medicine medicine.disease Medullary carcinoma Child Preschool Pediatrics Perinatology and Child Health Endocrine neoplasm Surgery Female Differential diagnosis medicine.symptom business |
| Zdroj: | Journal of pediatric surgery. 25(1) |
| ISSN: | 0022-3468 |
| Popis: | A 3-year-old child was referred with a tentative diagnosis of Hirschsprung's disease because of life-long constipation and "megacolon" demonstrated radiographically. Our rectal biopsy revealed hyperganglionosis suggestive of multiple endocrine neoplasia (MEN) type II B. This, in addition to an elevated serum calcitonin level, prompted surgical removal of her thyroid, which appeared grossly normal but on sectioning, contained a medullary carcinoma in each lobe. She remains disease-free 5 years later. Gastrointestinal symptoms are a significant component of the MEN type II B syndrome, and often antedate the full phenotypic expression of the syndrome and the development of potentially lethal endocrine neoplasms. On the basis of this experience, it is recommended that MEN II B be included in the differential diagnosis of chronic constipation. |
| Databáze: | OpenAIRE |
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