A family presenting with multiple endocrine neoplasia type 2B: A case report

被引：9

作者：

Majidi M. ^{[1
]}

Haghpanah V. ^{[1
]}

Hedayati M. ^{[2
]}

Khashayar P. ^{[1
]}

Mohajeri-Tehrani M. ^{[1
]}

Larijani B. ^{[1
]}

机构：

[1] Endocrinology and Metabolism Research Center, Tehran University of Medical Sciences, Tehran

[2] Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran

来源：

Journal of Medical Case Reports | / 5卷 / 1期

关键词：

Medullary Thyroid Carcinoma; Neuroma; Medullary Thyroid Cancer; Prophylactic Thyroidectomy; Projectile Vomiting;

D O I：

10.1186/1752-1947-5-587

中图分类号：

学科分类号：

摘要：

Introduction. Multiple endocrine neoplasia 2B, a rare autosomal dominant syndrome, is characterized by early onset of medullary thyroid carcinoma, pheochromocytoma, marfanoid habitus and mucosal neuromas of the tongue, lips, inner cheeks and inner eyelids. Gangliomatosis of the gastrointestinal tract and its complications may also occur in patients with this disease. Case presentation. We present the case of a 16-year-old Persian man diagnosed as having a non-invasive form of multiple endocrine neoplasia 2B (medullary thyroid cancer, mucosal neuroma of the tongue, lips and inner eyelids). Our patient, who had a positive family history of medullary thyroid cancer, was of normal height with no signs of marfanoid habitus. Conclusions: Ophthalmological and oral manifestations of multiple endocrine neoplasia 2B, as in the case of our patient, are rare presentations of the disease; unfortunately in the case of our patient his condition had not been noted and acted upon until he presented to our department. The diagnosis in our patient's case was made only after his mother presented with the same condition. As a result, we emphasize that physicians should pay more attention to the oral and ocular signs of multiple endocrine neoplasia 2B in order to diagnose this fatal syndrome at an earlier phase. © 2011 Majidi et al; licensee BioMed Central Ltd.

引用

共 17 条

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