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19–22 APRIL, 2017, BARCELONA, SPAIN
MATERIAL AND METHODS
The baby was diagnosed antenatally with three intra-abdominal cysts and oligohydraminos. He un-
derwent laparotomy on day 1 of life and was found to have urethral atresia, right duplex kidney, very
small bladder with a diverticulum and extra-vesical dilated right lower ureter. He had a vesicostomy
and large catheter placed in his right dilated ureter. His peak creatinine was 260 micromols/L in first
week of life. However, his urine output tailed off; needing haemodialysis from the age of 6 months.
His other problems were hypertension and conjugated hyperbilirubinaemia.
RESULTS
The main concern regarding renal transplantation was inadequate capacity of his bladder. It was
planned that an ileal conduit will be done with an aim to reverse it when he is older. On the day
of surgery on exploring his lower urinary tract the three cystic structure which were all lined by
transitional epithelium were successfully connected together to form a single large reservoir (blad-
der). Bilateral native nephrectomy was performed. The live-donor renal transplant went well and
the ureter was reimplanted in the neo-bladder and a new vesicostomy was fashioned. The child
creatinine has now stabilised at 10-15 micromols/L.
CONCLUSIONS
Children born with complex obstructive uropathy and early onset chronic renal failure should be
treated aggressively as successful outcome can be achieved.
15:51–16:07
Discussion
16:07–16:09
S3-9 (CP)
A NEW OVERGROWTH SYNDROME ASSOCIATED
WITH WILMS TUMORS: 9Q22.3 MICRO DELETION
SYNDROME
Aurore BOUTY
1
, Julie CAYROL
2
, Michael SULLIVAN
2
, Michael NIGHTINGALE
3
and Yves HELOURY
4
1) Royal Children’s Hospital, Urology, Parkville, AUSTRALIA - 2) Royal Children’s Hospital, Oncology, Parkville,
AUSTRALIA - 3) Royal Children’s Hospital, Pediatric Surgery, Parkville, AUSTRALIA - 4) Royal children’s hospital,
Pediatric urology, Parkville, AUSTRALIA
PURPOSE
9q22.3 syndrome is an autosomal dominant syndrome which includes deletion of PTCH1, gene
responsible for the Gorlin syndrome.
In addition to the clinical findings of the Gorlin syndrome, the 9q22.3 syndrome is associated to
developmental delay, metopic craniosynostosis, obstructive hydrocephalus, pre and postnatal
macrosomia and seizures.
Wilms tumors (WT) have been described in association with 9q22.3 syndrome.
The goal of this study was to report the incidence and the presentation of WT in 9q22.3 syndrome.
MATERIAL AND METHODS
A review of the literature (Pubmed, Embased) has been conducted. The key words were: Wilms;
Gorlin; 9q22.3 syndrome.
Two personal cases have been added to the previously described patients.