Multiple endocrine neoplasia type 2B combined with analogous Marfan's syndrome: a case report and literature review
10.3760/cma.j.issn.1000-6702.2014.03.001
- VernacularTitle:多发性内分泌腺瘤病2B型合并类马方综合征一例报告并文献复习
- Author:
Dexin DONG
;
Hanzhong LI
- Publication Type:Journal Article
- Keywords:
Multiple endocrine neoplasia type 2B;
Pheochromocytoma;
Analogous Marfan's syndrome;
RET gene
- From:
Chinese Journal of Urology
2014;35(3):161-164
- CountryChina
- Language:Chinese
-
Abstract:
Objective To report a case of multiple endocrine neoplasia type 2B (MEN 2B) combined with analogous Marfan's syndrome with the related literature review,in order to improve the knowledge of this disease.Methods A case of MEN 2B combined with analogous Marfan's syndrome was admitted in Peking Union Medical College Hospital in Nov 2011.The patient was a 21-year-old male with the chief complaint of tongue thick for 13 years,found a tumor in right adrenal gland for 3 months.The patient underwent radical thyroidectomy and lymph node dissection in April 2011 because of thyroid tumor,and postoperative pathology confirmed the diagnosis of medullary thyroid carcinoma(T2N1bM0).The patient had normal blood pressure without fluctuation.Physical examination indicated that the patient had thin limbs,long fingers and long toes.Carpal syndrome and finger syndrome were positive.There were multiple tumor like nodules in the tip of the tongue,lips,inner canthus of eyelids,and laryngoscopy showed multiple nodulars in bilateral vocal cord and bilateral tip splitting.Enhanced CT showed a tumor of 2.9 cm×3.4 cm×3.8 cm in the right adrenal gland.Endocrine examination revealed high catecholamines:norepinephrine 159.3 nmol,epinephrine 13.3 nmol,and DA 918.2 nmol.131I-MIBG was positive for pheochromocytoma.The clinical manifestation was in stationary state.Preoperative diagnosis was MEN 2B,right adrenal pheochromocytoma,medullary thyroid carcinoma (T2N1bM0)after operation,multilple mucosa neurofibroma and analogous Marfan's syndrome.Results The pheochromocytoma in right adrenal gland was removed by laparoscopy under general anesthesia successfully on Dec 12,2011.The postoperative pathology confirmed the diagnosis of pheochromocytoma.And gene mutation was found in exon 16 of RET gene.MEN 2B with analogous Marfan's syndrome was diagnosed.During the follow-up period for 28 months,the patient had normal blood pressure and heart rate without tumor recurrence or metastasis.Conclusions MEN 2B combined with analogous Marfan's syndrome is extremely rare.For patients with medullary thyroid carcinoma,pheochromocytoma should be considered before operation.For patients with analogous Marfan's appearance,Marfan's syndrome should be differentially diagnosed.
