Endocrine Abstracts

Introduction: Bardet-Biedl syndrome (BBS) is a rare disorder. It is an autosomal recessive hereditary ciliopathy, including: Multivisceral impairment, associated with obesity, learning disabilities, with or without intellectual deficit. We report the observation of 2 patients followed in our training for morbid obesity.

Case Report: Case 1: O. Y. 17 years old, from a non-consanguineous marriage. Admitted for management of morbid obesity, BMI=70 kg/m², Malformative syndrome: [Postaxial hexadactyly of the 4 limbs, Club feet, Ogival palate]. Ophthalmologic anomalies: [Nystagmus, Strabismus]. Neurological examination: [Coordination disorders]. Paraclinical check-up: Eye fundus: retinitis pigmentosa, Standard radiography: Hexadactyly of the 4 limbs with club feet. Abdominal ultrasound: a left upper polar renal cyst. The biological workup was unremarkable, apart from a vitamin D deficiency that was being corrected. Case 2: A.F. 15 years old, from a non-consanguineous marriage. Admitted for management of morbid obesity. BMI=40 kg/m², Malformative syndrome: [brachydactyly of both hands, club feet]. Ophthalmologic anomalies: [Strabismus]. Paraclinical check-up: Fundus: retinitis pigmentosa, standard X-ray: brachydactyly of both hands with club feet, abdominal-pelvic ultrasound: no genitourinary malformation. The biological workup was unremarkable.

Discussion and Conclusion: BBS is an inherited ciliopathy resulting in multivisceral involvement and intellectual deficit. The diagnosis of BBS is clinical and defined by the association of four major criteria or three major and two minor criteria according to Beales et al. The diagnosis of BBS was made in the first patient because of the first four major criteria, which were also associated with three other minor criteria: strabismus, coordination disorder and ogival palate. In the second patient, the diagnosis was based on 3 major and 2 minor criteria. The medical management of BBS is multidisciplinary because of the multivisceral involvement