Madireddi Jagadesh, Acharya Vasuveda, Suryanarayana Jandhyala, Hande Handattu Manjunath, Shetty Ranjan
Department of Internal Medicine, Kasturba Medical College, Manipal, Manipal, Karnataka, India.
BMJ Case Rep. 2015 Nov 26;2015:bcr2015211776. doi: 10.1136/bcr-2015-211776.
Bardet-Biedl syndrome (BBS) is a rare congenital ciliopathy characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism and renal dysfunction. A 45-year-old Indian man presented with New York Heart Association class 2 dyspnoea of 3 months duration. He was blind since childhood. He was obese, cyanosed, and had clubbing and polydactyly. Systemic examination revealed presence of wide and fixed split second heart sound with systolic murmur in the left parasternal area. Work up unmasked the presence of secondary polycythaemia, atypical retinitis pigmentosa and partial atrioventricular defect. He was diagnosed to have BBS based on clinical and radiological features. This case is interesting for its rarity and also for the peculiarity of its cardiovascular association. Polydactyly with a suspicious clinical background is the clue and by itself warrants the clinician to search for occult anomalies. Clinicians must be aware of this syndrome, for which an early diagnosis and a multidisciplinary approach will significantly improve mortality and morbidity in patients.
巴德-比埃尔综合征（BBS）是一种罕见的先天性纤毛病，其特征为视锥视杆营养不良、轴后多指畸形、中枢性肥胖、智力发育迟缓、性腺功能减退和肾功能不全。一名45岁的印度男性出现纽约心脏协会2级呼吸困难，持续3个月。他自幼失明。他体型肥胖、面色发绀，并有杵状指和多指畸形。全身检查发现第二心音宽而固定分裂，左胸骨旁区有收缩期杂音。进一步检查发现存在继发性红细胞增多症、非典型视网膜色素变性和部分房室缺损。根据临床和影像学特征，他被诊断为患有BBS。该病例因其罕见性以及心血管关联的特殊性而令人关注。伴有可疑临床背景的多指畸形是线索，本身就促使临床医生寻找隐匿的异常情况。临床医生必须了解这种综合征，早期诊断和多学科方法将显著改善患者的死亡率和发病率。
