Urinary incontinence is one of the most common symptoms in children and adolescents. Due to numerous causes, a thorough examination is necessary. We present a case of a 6-year-old boy with diurnal enuresis, who was admitted to our Department for further treatment after the procedure of bilateral ureteroneocystostomy due to suspected bilateral ureter stenosis. With the persistence of the incontinence, our examination revealed a posterior urethral valve which was incised and the symptoms subsided.

Posterior urethral valves (PUV) are the most common cause of lower urinary tract obstruction in boys. They are usually suspected antenatally or soon after the birth as the cause of severe hydronephrosis, oligohydramnios, renal hypodysplasia, and kidney failure. In milder forms of PUV, the uncharacteristic symptoms occur later in childhood, adolescence, or even adulthood and cause diagnostic problems. The final diagnosis and causative treatment of PUV are possible due to cystourethroscopy. Nevertheless, as a consequence of the defect, valve bladder syndrome (VBS) occurs and requires long-term treatment. The authors present a case of a 14-year-old boy with a late diagnosis of PUV at the age of 7. Recurrent pyelonephritis and nonspecific voiding dysfunction were the first symptoms. Ultrasounds(US) were initially normal while videocystometry(VCM) showed the 3rd-grade right-sided vesicoureteral reflux (VUR), bladder diverticulum as well as discrete detrusor overactivity, and reduced bladder capacity without any signs of bladder obstruction. Bilateral post-inflammatory nephropathy completed the clinical picture. In urethrocystoscopy surprisingly PUV were found and incised. Due to recurrent urinary tract infections (UTIs) one year later the STING procedure was performed which resulted in the resolution of VUR. Despite this, the features of bladder dysfunction, requiring regular urodynamic evaluation and pharmacotherapy, persisted. Recurrent UTIs in boys may suggest urinary tract obstruction and PUV should be considered regardless of the patient's age. Early diagnosis and appropriate management may improve the prognosis.

Introduction.Hereditary multiple exostoses (HME) is a rare autosomal dominant disorder, caused primarily by loss of function mutations in 2 genes EXT1 and EXT2 linked to the synthesis of heparan sulfate (HS). Deficiency of HS causes the formation of numerous benign cartilage-capped bone tumours. There is no causal treatment for this disease. Surgery is recommended only for symptomatic lesions and malignant transformations. Case Report. The case is presented of an 11-year-old boy with a pathogenic variant in the EXT1 gene and steroid-sensitive nephrotic syndrome (NS), diagnosed at the age of 8. There are only single reports of the co-existence of HME and NS. Conceivably, HS deficiency may explain ultra-structural changes in kidney glomeruli that result in NS, although unknown, second-hit risk factors seem to have significant contributions. Further research is necessary.