Gezira Hospital for Renal Disease and Surgery, Wad Medani, Sudan.
Faculty of Medicine, University of Gezira, Wad Medani, Sudan.
J Med Case Rep. 2022 Apr 29;16(1):169. doi: 10.1186/s13256-022-03396-6.
Bardet-Biedl syndrome is a rare multisystem autosomal recessive disorder that falls under the spectrum of ciliopathy disorders. It is characterized by rod-cone dystrophy, renal malformations, polydactyly, learning difficulties, central obesity, and hypogonadism. Many minor features that are related with Bardet-Biedl syndrome might aid in diagnosis and are crucial in clinical management. Bardet-Biedl syndrome is diagnosed on the basis of clinical signs and symptoms, which can be confirmed by genetic testing. Here we present four cases of Bardet-Biedl syndrome. To our knowledge, these are the first cases of Bardet-Biedl syndrome reported from Sudan.
Here, we report four Sudanese patients who presented with a variety of clinical manifestations of Bardet-Biedl syndrome (two males, 50 and 16 years old; two females, 38 and 18 years old). The first two patients presented with features of chronic kidney disease. The third patient had recently been diagnosed with type 1 diabetes and diabetic ketoacidosis. The fourth patient showed signs of retinal dystrophy early on. Case 1: a 38-year-old female presented with vomiting and irritability; the patient was diagnosed with Bardet-Biedl syndrome as she fulfilled six items of the primary features (obesity, retinitis pigmentosa, post-axial polydactyly, renal abnormalities, learning disabilities, and genitourinary malformations), as well as one secondary feature (cardiovascular involvement, that is, left ventricular hypertrophy). Case 2: a 50-year-old male presented with fatigability; the patient was diagnosed with Bardet-Biedl syndrome as he fulfilled four items of the primary features (obesity, retinitis pigmentosa, post-axial polydactyly, and renal abnormalities) in addition to two secondary features (diabetes mellitus and cardiovascular involvement, that is, left ventricular hypertrophy). Case 3: an 18-year-old female presented with polyuria, polydipsia, weight loss, and epigastric pain for 2 days; the patient was diagnosed with Bardet-Biedl syndrome because he had four major features (retinal dystrophy, post-axial polydactyly, obesity, and learning disabilities) in addition to three secondary features (developmental delay, diabetes mellitus, and strabismus). Case 4: a 16-year-old male presented with a blurring of vision; the patient was diagnosed with Bardet-Biedl syndrome as he exhibited four major features (retinal dystrophy, post-axial polydactyly, obesity, and learning disabilities) plus two secondary features (developmental delay and cataract).
The scarcity of Bardet-Biedl syndrome necessitates a high index of suspicion to diagnose this syndrome. Increased awareness among physicians is required for the early diagnosis and treatment of Bardet-Biedl syndrome and to avoid complications and mortality.
Bardet-Biedl 综合征是一种罕见的常染色体隐性遗传多系统疾病，属于纤毛病变疾病谱。其特征为 rods-cone 营养不良、肾脏畸形、多指（趾）畸形、学习困难、中心性肥胖和性腺功能减退。许多与 Bardet-Biedl 综合征相关的轻微特征有助于诊断，并在临床管理中至关重要。Bardet-Biedl 综合征基于临床症状和体征诊断，可以通过基因检测确认。本文报告了 4 例 Bardet-Biedl 综合征患者。据我们所知，这些是苏丹首例 Bardet-Biedl 综合征病例。
本文报告了 4 例苏丹患者，他们表现出各种 Bardet-Biedl 综合征的临床表现（2 例男性，年龄分别为 50 岁和 16 岁；2 例女性，年龄分别为 38 岁和 18 岁）。前 2 例患者表现为慢性肾脏病特征。第 3 例患者最近被诊断为 1 型糖尿病和糖尿病酮症酸中毒。第 4 例患者早期出现视网膜营养不良迹象。病例 1：38 岁女性因呕吐和烦躁就诊，患者因满足主要特征（肥胖、视网膜色素变性、轴后多指、肾脏异常、学习障碍和泌尿生殖系统畸形）的 6 项以及次要特征（心血管受累，即左心室肥厚）之一，被诊断为 Bardet-Biedl 综合征。病例 2：50 岁男性因疲劳就诊，患者因满足主要特征（肥胖、视网膜色素变性、轴后多指和肾脏异常）的 4 项以及次要特征（糖尿病和心血管受累，即左心室肥厚）两项，被诊断为 Bardet-Biedl 综合征。病例 3：18 岁女性因多尿、多饮、体重减轻和上腹痛 2 天就诊，因满足主要特征（视网膜营养不良、轴后多指、肥胖和学习障碍）4 项以及次要特征（发育迟缓、糖尿病和斜视）3 项，被诊断为 Bardet-Biedl 综合征。病例 4：16 岁男性因视力模糊就诊，因满足主要特征（视网膜营养不良、轴后多指、肥胖和学习障碍）4 项以及次要特征（发育迟缓、白内障）2 项，被诊断为 Bardet-Biedl 综合征。
由于 Bardet-Biedl 综合征罕见，因此需要高度怀疑才能诊断该综合征。需要提高医生的认识，以便早期诊断和治疗 Bardet-Biedl 综合征，避免并发症和死亡。
