Y M Prasanth, Ashraf Mohammed, B M Venkatesh, Menezes Sharol, Mohan Abraham
Assistant Professor, Department of Medicine, Father Muller Medical college , Mangalore, Karnataka, India .
J Clin Diagn Res. 2013 Jun;7(6):1163-4. doi: 10.7860/JCDR/2013/4770.3030. Epub 2013 Jun 1.
The Bardet-Biedl syndrome (BBS), a rare autosomal recessive disorder, was first described by Bardet and Biedl in 1920. Here, we are reporting a case of the Bardet-Biedl syndrome with hypokalaemic paralysis. A 22 years old male patient presented with an acute onset, rapidly progressive, flaccid weakness in all four limbs. An examination revealed a moon shaped face, acanthosis nigricans, lower limb polydactyly, central obesity, small testicular size, absence of the axillary and pubic hairs, severely impaired social adaptive functioning and retinitis pigmentosa. The central nervous system examination showed hypotonia, a grade zero power and absent reflexes. The laboratory reports showed that the patient had hypokalaemia and diabetes mellitus. The literature showed hypokalaemic paralysis as a rare complication of the Bardet-Biedl syndrome.
巴德-比德尔综合征（BBS）是一种罕见的常染色体隐性疾病，于1920年由巴德和比德尔首次描述。在此，我们报告一例伴有低钾性麻痹的巴德-比德尔综合征病例。一名22岁男性患者急性起病，四肢迅速出现进行性弛缓性无力。检查发现患者有满月脸、黑棘皮症、下肢多指畸形、向心性肥胖、睾丸小、腋毛和阴毛缺失、社会适应功能严重受损以及色素性视网膜炎。中枢神经系统检查显示肌张力减退、肌力为零级且反射消失。实验室报告显示该患者患有低钾血症和糖尿病。文献表明低钾性麻痹是巴德-比德尔综合征的一种罕见并发症。
