Andanappa Adithya, Alla Sai Santhosha Mrudula, Malireddi Aparna, Udedh Prajwal, Kukunoor Hanisha Reddy, Alla Deekshitha, Repalle Uday Kumar, Kosuru Bhanu Prasad, Tirupati Soujanya, Bayeh Ruth Getaneh
Mysore Medical College and Research Institute, Mysore, India.
Andhra Medical College, Visakhapatnam, India.
J Med Case Rep. 2025 Aug 11;19(1):402. doi: 10.1186/s13256-025-05455-0.
Bardet-Biedl syndrome is a rare autosomal recessive disease occurring due to a ciliopathic genetic defect. It is caused by mutations in genes encoding proteins vital for the BBSome complex. This complex is essential for ciliary function and cellular signaling. It has multisystem involvement and presents with a variety of phenotypes.
A 30-year-old adult male patient, Indian by ethnicity, presented with a 2-week history of ascites and dyspnea. The ascitic fluid analysis confirmed abdominal tuberculosis. However, the patient showed other symptoms and signs of a syndromic nature. The patient has been entirely blind since the age of 9 years, with confirmed retinitis pigmentosa. The other complaints were progressive weight gain and cognitive impairment. Examination showed central obesity, almond-shaped eyes, moon-shaped face, and hexadactyly in the left lower limb. Liver functional tests, renal function tests, lipid profile, and ultrasonography of the abdomen were abnormal. Beales diagnostic criteria confirmed Bardet-Biedl syndrome. The patient was treated for abdominal tuberculosis, and psychosocial support and nutritional counseling were provided.
Effective treatment of Bardet-Biedl syndrome requires genetic counseling and a personalized care plan that includes a multidisciplinary team, regular monitoring, and supportive services such as neuropsychological and psychiatric care and family support. This case also increases clinicians' awareness of the presentation of Bardet-Biedl syndrome and the diagnosis in settings without advanced diagnostic modalities.
巴德-比德尔综合征是一种罕见的常染色体隐性疾病，由纤毛病基因缺陷引起。它是由编码对BBSome复合体至关重要的蛋白质的基因突变所致。该复合体对纤毛功能和细胞信号传导至关重要。它有多系统受累，并表现出多种表型。
一名30岁的成年男性患者，种族为印度人，有2周的腹水和呼吸困难病史。腹水分析确诊为腹部结核。然而，该患者表现出其他综合征性质的症状和体征。该患者自9岁起完全失明，确诊为色素性视网膜炎。其他主诉为体重逐渐增加和认知障碍。检查发现中央性肥胖、杏仁状眼、满月脸以及左下肢多指畸形。肝功能检查、肾功能检查、血脂分析和腹部超声检查均异常。比尔斯诊断标准确诊为巴德-比德尔综合征。该患者接受了腹部结核治疗，并提供了心理社会支持和营养咨询。
巴德-比德尔综合征的有效治疗需要遗传咨询和个性化护理计划，其中包括多学科团队、定期监测以及神经心理和精神护理及家庭支持等支持性服务。该病例还提高了临床医生对巴德-比德尔综合征表现及在缺乏先进诊断手段情况下诊断的认识。
