Psychosis as a rare neuropsychiatric manifestation of Bardet-Biedl syndrome: A case report.

Abstract

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.