罕见病研究2024,Vol.3Issue(2) :237-240.DOI:10.12376/j.issn.2097-0501.2024.02.013

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

陈宇 李建薇 谭惠文 余叶蓉
罕见病研究2024,Vol.3Issue(2) :237-240.DOI:10.12376/j.issn.2097-0501.2024.02.013

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

陈宇 1李建薇 2谭惠文 2余叶蓉2
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作者信息

  • 1. 四川大学华西医院内分泌代谢科,成都 610041
  • 2. 四川大学华西医院内分泌代谢科,成都 610041;四川大学华西医院垂体瘤及相关疾病诊疗中心,成都 610041
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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.

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.

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

Key words

rare diseases/Marfan syndrome/lens dislocation/pituitary tumors/somatotropin/insulin-like growth factor

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出版年

2024
罕见病研究

罕见病研究

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