CAJ | 학술논문

目的报告1例多发性内分泌腺瘤病2B型(multiple endocrine neoplasia type 2B,MEN2B)合并类马方综合征患者的资料,并复习相关文献,以提高对该病的认识.方法回顾性分析2011年11月14日我院收治的1例MEN 2B合并类马方综合征患者的资料,男,21岁.因唇舌粗厚13年,发现右肾上腺占位3个月余入院.2011年4月因甲状腺肿瘤于外院行甲状腺癌根治术+淋巴结清扫术,术后病理诊断为甲状腺髓样癌(T2N1bM0).查体:监测血压正常,无发作性血压升高.患者四肢纤瘦,手指和脚趾细长.腕征阳性,指征阳性.嘴唇、舌尖、眼睑内眦处可见多发瘤样结节.喉镜检查提示双侧声带后端及双侧劈裂多发结节样新生物.腹盆腔增强CT检查示右肾上腺肿瘤,大小约2.9 cm×3.4 cm×3.8 cm,平扫CT值约46 HU,增强约77 HU.内分泌检查提示24 h尿儿茶酚胺:去甲肾上腺素159.6 nmol,肾上腺素13.3 nmol,多巴胺918.2 nmol.肾上腺髓质显像(131I-MIBG)检查示右肾上腺区放射性增高区,考虑为嗜铬细胞瘤.患者右肾上腺肿瘤的临床表现为静止型.术前诊断:MEN 2B,右肾上腺嗜铬细胞瘤,双侧甲状腺髓样癌(T2N1bM0)术后,唇、舌、眼睑、声带黏膜神经纤维瘤,类马方综合征.结果全麻下行腹腔镜下右肾上腺嗜铬细胞瘤切除术,手术顺利.术后病理诊断为右肾上腺嗜铬细胞瘤,RET基因检测发现第16外显子基因突变,MEN 2B合并类马方综合征诊断明确.随访28个月,患者血压、心率平稳,无肿瘤复发和转移.结论 MEN 2B合并类马方综合征临床罕见.甲状腺髓样癌患者术前要考虑到合并嗜铬细胞瘤的可能性.类马方综合征患者需要与马方综合征进行鉴别诊断.
목적 보고1례다발성내분비선류병2B형(multiple endocrine neoplasia type 2B,MEN2B)합병류마방종합정환자적자료,병복습상관문헌,이제고대해병적인식.방법 회고성분석2011년11월14일아원수치적1례MEN 2B합병류마방종합정환자적자료,남,21세.인진설조후13년,발현우신상선점위3개월여입원.2011년4월인갑상선종류우외원행갑상선암근치술+림파결청소술,술후병리진단위갑상선수양암(T2N1bM0).사체:감측혈압정상,무발작성혈압승고.환자사지섬수,수지화각지세장.완정양성,지정양성.취진、설첨、안검내자처가견다발류양결절.후경검사제시쌍측성대후단급쌍측벽렬다발결절양신생물.복분강증강CT검사시우신상선종류,대소약2.9 cm×3.4 cm×3.8 cm,평소CT치약46 HU,증강약77 HU.내분비검사제시24 h뇨인다분알:거갑신상선소159.6 nmol,신상선소13.3 nmol,다파알918.2 nmol.신상선수질현상(131I-MIBG)검사시우신상선구방사성증고구,고필위기락세포류.환자우신상선종류적림상표현위정지형.술전진단:MEN 2B,우신상선기락세포류,쌍측갑상선수양암(T2N1bM0)술후,진、설、안검、성대점막신경섬유류,류마방종합정.결과 전마하행복강경하우신상선기락세포류절제술,수술순리.술후병리진단위우신상선기락세포류,RET기인검측발현제16외현자기인돌변,MEN 2B합병류마방종합정진단명학.수방28개월,환자혈압、심솔평은,무종류복발화전이.결론 MEN 2B합병류마방종합정림상한견.갑상선수양암환자술전요고필도합병기락세포류적가능성.류마방종합정환자수요여마방종합정진행감별진단.
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.