A case of delayed diagnosis of Bardet-Biedl syndrome

Bardet-Biedl syndrome is a rare multisystem autosomal recessive disorder that belongs to the spectrum of ciliopathies. Typical features include central obesity and hypogonadism, retinitis pigmentosa, renal dysfunction, polydactyly, mental retardation and learning difficulties. The syndrome diagnostics is based on clinical manifestations and symptoms, and it can be confirmed by molecular genetic testing. The article discusses the clinical features, diagnostics, differential diagnostics, difficulties and possibilities of treatment of a patient with progressive obesity and associated disorders. Bardet-Biedl syndrome was verified at the age of 23 by genetic analysis: homozygous mutation in the BBS1 gene was detected.

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