Introduction:

Bardet-Biedl syndrome (BBS) is a rare multisystem disorder, predominantly of autosomal recessive transmission, with genetic and clinical heterogeneity. Prevalence in Europe varies from 1:125,000 to 1:175,000, equally affecting both sexes. BBS is defined by a variable combination of obesity, polydactyly, genitourinary anomalies, retinal dystrophy, cognitive impairment, and other less prevalent manifestations. The diagnosis of BBS is clinical, confirmed by molecular analysis. This allows for genetic counseling of families and the possibility of prenatal diagnosis. Currently, there is no curative treatment for BBS, being early diagnosis is important to plan a multidisciplinary follow-up. Family physicians, owing to their closeness with the patient and longitudinal follow-up, may identify red flags leading both to early diagnosis and early detection of complications, and to detect and mitigate any psychosocial mishaps.

Case description:

Male, Caucasian, four years old, born in Lisbon, first of three children. The pregnancy was initially followed by the general practitioner. Due to changes in the routine morphological ultrasound - polycystic kidneys and polydactyly - a referral was made to a consultation of medical genetics, where the genetic study was carried out to establish the diagnosis of BBS type 4. He was born by eutocic delivery, at the end of a full-term gestation, without complications. He was referred to consultations in pediatrics, genetics, nephrology, ophthalmology, otorhinolaryngology, pediatric plastic surgery, and pediatric cardiology. At about one year of age, he was diagnosed with myopia. At the age of three, he underwent the first disarticulation of the supernumerary fingers and toes. The child keeps follow-up at the USF consultation and nutritional monitoring, so far showing adequate height-weight progression.

Comment:

The objective of this case report is to describe a case of BBS and to identify the role of the family physician in the referral and follow-up of a child with a rare genetic disorder.

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