title: Autism: a rare presentation of Bardet-Biedl syndrome.
abstract: Although mental retardation is generally associated with Bardet-Biedl (BBS) syndrome, a rare autosomal recessive disorder with multisystem involvement, autism is an unusual comorbidity. An 8-year-old boy presented to our psychiatry department with poor social skills and night blindness. On further assessment autism, mild mental retardation, retinitis pigmentosa, polydactyly and syndactyly, obesity, micropenis, maldescended testis, hypodontia and high-arched palate were noted and subsequently a diagnosis of BBS was made. To the best of our knowledge, this is the first reported case of BBS with autism from eastern India; it also emphasises the importance of thorough physical examination even in a patient presenting with pure psychiatric symptoms.
authors.affiliation: Department of Psychiatry, Medical College Kolkata, Kolkata, West Bengal, India.
authors.forename: Seshadri Sekhar
authors.initials: SS
authors.lastname: Chatterjee
authors.affiliation: Department of Psychiatry, Medical College Kolkata, Kolkata, West Bengal, India.
authors.forename: Prathama
authors.initials: P
authors.lastname: Guha
authors.affiliation: Department of General Medicine, Medical College Kolkata, Kolkata, West Bengal, India.
authors.forename: Arunansu
authors.initials: A
authors.lastname: Talukdar
authors.affiliation: Department of Psychiatry, Medical College Kolkata, Kolkata, West Bengal, India.
authors.forename: Gargi
authors.initials: G
authors.lastname: Dasgupta
mesh_terms: D001321:Autistic Disorder / Q000175:diagnosis / Q000209:etiology*; D020788:Bardet-Biedl Syndrome / Q000150:complications* / Q000175:diagnosis; D002648:Child; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D011594:Psychometrics / Q000379:methods