Singh Anupam, Agrawal Ajai, Mittal Sanjeev Kumar, Udenia Hemlata, Bandu Ghawghawe Harshad
Department of Ophthalmology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.
Taiwan J Ophthalmol. 2019 Oct 17;10(2):138-140. doi: 10.4103/tjo.tjo_62_19. eCollection 2020 Apr-Jun.
We report here a rare case of Bardet-Biedl syndrome (BBS). A 7-year-old boy was diagnosed to have BBS based on the clinical features: retinitis pigmentosa sine pigmento, obesity, postaxial polydactyly, syndactyly, and hypogenitalism. It was associated with mild hepatomegaly with deranged liver function test and mild renal involvement radiologically, high-arched palate, and low intelligence quotient. The patient was prescribed proper refractive correction and subjected to multidisciplinary management. BBS has ocular and systemic manifestations, requiring a multidisciplinary approach to treatment.
我们在此报告一例罕见的巴德-比德尔综合征（BBS）病例。一名7岁男孩根据临床特征被诊断为患有BBS：无色素性视网膜色素变性、肥胖、轴后多指畸形、并指畸形和生殖器发育不全。它还伴有轻度肝肿大、肝功能检查异常以及放射学检查显示的轻度肾脏受累、高拱腭和低智商。该患者接受了适当的屈光矫正并接受了多学科管理。BBS有眼部和全身表现，需要多学科方法进行治疗。
