易误诊为巨人症的马凡综合征合并垂体瘤一例  

A Case Report of Marfan Syndrome with Pituitary Tumor Which Could be Misdiagnosed as Gigantism

作　　者：陈宇[1] 李建薇[1,2] 谭惠文[1,2] 余叶蓉[1,2] CHEN Yu;LI Jianwei;TAN Huiwen;YU Yerong(Department of Endocrinology and Metabolism,West China Hospital,Sichuan University,Chengdu 610041,China;Center for Diagnosis and Treatment of Pituitary Tumors and Related Diseases,West China Hospital,Sichuan University,Chengdu 610041,China)

机构地区：[1]四川大学华西医院内分泌代谢科,成都610041 [2]四川大学华西医院垂体瘤及相关疾病诊疗中心,成都610041

出　　处：《罕见病研究》2024年第2期237-240,共4页Journal of Rare Diseases

摘　　要：马凡综合征(MFS)是一种常染色体显性遗传疾病,易伴有纤维发育不良、晶状体脱位和身高增长过快,需与巨人症鉴别。本文报道一例14岁以身高增长过快和视力受损为临床表现的MFS患者,其双眼存在典型的双眼晶状体半脱位。垂体增强MRI提示垂体微腺瘤,但生长激素和胰岛素样生长因子-1正常,排除巨人症或肢端肥大症,考虑无功能性垂体腺瘤。MFS患者需要长期的随访和多学科协作,注意心血管系统的监测和基因检查等,有助于患者的疾病诊疗与风险防控。Marfan syndrome(MFS)is an autosomal dominant disorder that is prone to fibrodysplasia,lens dislocation and rapid height growth,which needs to be distinguished from gigantism.This article reports a 14yearold patient with MFS who had a typical binocular lens subluxation in both eyes,with visual impairment and rapid height growth.MRI with contrast to the pituitary suggested a pituitary microadenoma,but growth hormone and insulinlike growth factor 1 were in the normal range,thus excluding gigantism or acromegaly.Nonfunctional pituitary adenoma was considered.MFS patients need longterm followup and multidisciplinary collaboration,and attention should be paid to cardiovascular system monitoring and genetic testing,which can be helpful for the diagnosis and treatment of patients and risk prevention and control.

关 键 词：罕见病 马凡综合征 晶状体脱位 垂体瘤 生长激素 胰岛素样生长因子 

分 类 号：R596.1[医药卫生—内科学]