Bardet-Biedl syndrome: a case series.

BACKGROUND: 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. CASE PRESENTATION: 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). CONCLUSION: 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.

Predominance of females with oesophageal cancer in Gezira, Central Sudan.

BACKGROUND: The majority of oesophageal cancer cases occur in developing countries. Globally males predominate. OBJECTIVE: This study aims to review the clinical aspects of oesophageal carcinoma in Sudanese patients referred to endoscopy in Gezira, Central Sudan. PATIENTS & METHOD: Data were collected from patients who underwent endoscopy during the period from 2005 to 2007 at The Gezira Centre for Gastroenterology Endoscopies and Laparoscopic Surgery. Demographic and clinical data including; sex, age, locality of residence, clinical presentation, tumour site and morphology were collected and analysed. RESULTS: Seven hundred and two patients were consecutively referred to our centre for endoscopy. Seventy-three out of 702 patients (9.6%) referred for endoscopy proved to have oesophageal cancer. Fifty-five out of 73 patients (75.3%) were females generating a male to female ratio of 1:3.3. The mean age of females was 52.75±11.66years and that of males was 66.11±9.52. Sixteen (21.9%) patients came from the Managil; 14 (19.2%) from Hasaheesa and Rufaa; 14 (19.2%) from Blue Nile; 10 (13.7%) from Wadmedani (Central Sudan) and 19 (26%) from Elfaw and Kassala. In most cases (75.3%), the tumours were located in the middle third of the oesophagus. 79.5% of the tumours were squamous cell type. CONCLUSION: Patients referred for endoscopy to The Gezira Centre for Gastroenterology, Endoscopies and Laparoscopic Surgery in Gezira revealed a greater proportion of women than of men diagnosed with the disease (1:3.3). More studies are needed to investigate the epidemiology of this disease and to identify the reason for the apparent gender uneven manifestation.