A rare case of obesity. Can it be Bardet‐Biedl Syndrome?
Bardet‐Biedl Syndrome (BBS) is a rare autosomal recessive disorder with a wide spectrum of clinical manifestations like retinal dystrophy, obesity, polydactyly, mental retardation, hypogonadism, and renal dysfunction.

A 14‐year‐old male child, product of nonconsanguineous parents, presented to pediatric outpatient department with the chief complains of excessive weight gain since 8 years of age. On further inquiry, the child was found to have poor scholastic performance and skills. There was no family history of obesity. Developmental milestones were attained as per age. On examination, his height was 144 cm (Z score = −2.4) and weight 65 kg (>85th Centile) with BMI of 31.3 kg/m2 (98.6 percentile). Blood pressure was at 75th centile for his age. Genital examination showed bilateral undescended testis with micropenis. Thyroid function test revealed raised thyroid‐stimulating hormone (TSH) level.

Child was then started on oral L‐thyroxine. He also started having visual symptoms after 2 years of follow‐up (at the age of 16 years). Child started complaining of difficulty in seeing at night which was progressive in nature. Fundoscopic examination showed findings typical of retinitis pigmentosa.

Four out of six major criteria are required to make a clinical diagnosis of BBS. Genetic analysis is needed for definitive diagnosis which shows mutation of BBS gene.

Source: Clinical case reports

Read more: https://onlinelibrary.wiley.com/doi/full/10.1002/ccr3.2356
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