Bardet-Biedl syndrome: a case series.

Area of Science:

• Genetics
• Rare diseases
• Ciliopathies

Background:

• Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive ciliopathy.
• Characterized by rod-cone dystrophy, renal malformations, polydactyly, learning difficulties, obesity, and hypogonadism.
• Diagnosis relies on clinical signs, symptoms, and genetic testing.

Observation:

• Four Sudanese patients (2 males, 2 females; ages 16-50) presented with varied BBS manifestations.
• Clinical features included chronic kidney disease, type 1 diabetes, diabetic ketoacidosis, and early retinal dystrophy.
• Detailed case presentations outline primary and secondary features fulfilling BBS diagnostic criteria.

Findings:

• The reported cases represent the first documented instances of Bardet-Biedl syndrome in Sudan.
• The diverse clinical spectrum underscores the complexity of BBS diagnosis.
• Early identification of minor features aids in clinical management.

Implications:

• Increased physician awareness of BBS is crucial for timely diagnosis.
• Early diagnosis and management can prevent severe complications and reduce mortality.
• This report expands the geographic understanding of BBS prevalence.