Laurence-Moon-Bardet-Biedl综合征:一例罕见病例报告

Mahesh Dave, Anuj Goyal, Deepanshu, Ram Gopal Saini, Gaurav Dave
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摘要

简介:Laurence-Moon-Bardet-Biedl综合征(LMBBS)是一种罕见的常染色体隐性遗传病,其主要症状为显著的中枢性肥胖、视网膜营养不良、多指畸形、智力低下、性腺功能减退和肾功能不全。病例介绍:我们报告一个20岁的男性病例,他向我们提出发烧,呕吐和头晕的历史。由于患者有多指畸形、视网膜色素变性、中枢性肥胖、性腺功能减退和低智商,他被偶然诊断为LMBBS。结论:Laurence-Moon-Bardet-Biedl综合征是一种发病率极低的罕见综合征;因此,我们报告这一案件。此外,我们建议从各个专业更勤奋的方法,这样这种综合征可以在早期被发现。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Laurence-Moon-Bardet-Biedl Syndrome: A Rare Case Report
Introduction: Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare autosomal-recessive disorder, which is characterized principally by cardinal symptoms of marked central obesity, retinal dystrophy, polydactyly, mental retardation, hypogonadism and renal dysfunction. Case presentation: We report a case of a 20-year-old male who presented to us with history of fever, vomiting and dizziness. He was incidentally diagnosed as a case of LMBBS as the patient was having polydactyly, retinitis pigmentosa, central obesity, hypogonadism and low IQ. Conclusion: Laurence-Moon-Bardet-Biedl syndrome is a very rare syndrome with very low incidence; hence, we are reporting this case. In addition, we advice more diligent approach from various specialties, so that this syndrome can be picked up at an early age.
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