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

VernacularTitle:易误诊为巨人症的马凡综合征合并垂体瘤一例
Author: Yu CHEN ¹ ; Jianwei LI ; Huiwen TAN ; Yerong YU
Author Information

1. 四川大学华西医院内分泌代谢科,成都 610041
Keywords: rare diseases; Marfan syndrome; lens dislocation; pituitary tumors; somatotropin; insulin-like growth factor
From: JOURNAL OF RARE DISEASES 2024;3(2):237-240
CountryChina
Language:Chinese
Abstract: 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 14-year-old 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 hor-mone and insulin-like growth factor 1 were in the normal range,thus excluding gigantism or acromegaly.Non-functional pituitary adenoma was considered.MFS patients need long-term follow-up and multidisciplinary col-laboration,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.