Bardet–Biedl syndrome is a rare, pleiotropic genetic disorder. Despite advances in genetic testing, the diagnosis of Bardet–Biedl syndrome remains primarily clinical, particularly in low-resource settings. Clinical features are classified as either primary or secondary. The primary features include retinal dystrophy, central obesity, renal abnormalities, male hypogonadism, and learning disabilities. Secondary characteristics include developmental delay, dental defects, diabetes mellitus, speech disorders, brachydactyly/syndactyly, and ocular abnormalities such as nystagmus, strabismus, and astigmatism. A significant proportion of patients with Bardet–Biedl syndrome present with behavioral and psychiatric symptoms. It is estimated that one-third of patients with Bardet–Biedl syndrome meet the criteria for a major psychiatric disorder during their lifetime. However, there is a paucity of research on neuropsychiatric traits and their management in Bardet–Biedl syndrome. Herein, we report a case of psychosis in a patient with features of Bardet–Biedl syndrome and describe the multidisciplinary management provided in a psychiatric setting.

BackgroundBardet–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 presentationHere, 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).ConclusionThe 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.