Bardet-biedl syndrome in a child with chronic kidney diseas

Abstract EN

A 4-year old boy was referred for evaluation of renal failure, posterior urethral valve (PUV) and urinary tract infection.

His parents added complaints of polyuria, polydipsia, enuresis, shortness of stature, and inappropriate obesity.

Serum blood urea nitrogen and creatinine levels were 45 and 3.5 mg / dL, respectively.

Urine culture was positive for Pseudomonas aeruginosa, and abdominal ultrasound revealed bilateral small kidneys.

The patient's history included mild to moderate mental retardation and postaxial polydactyly of both lower limbs amputated two years ago.

The combination of mental retardation, obesity, postaxial polydactyly, and bilateral renal hypoplasia were compatible with the diagnosis Bardet-Biedl syndrome (BBS).

The combination of PUV and BBS is a rare condition that caused this early onset of renal failure and inappropriate obesity guided us to the diagnosis.