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11–14 APRIL, 2018, HELSINKI, FINLAND
14:04–14:06
S2-3 (CP)
MENKES DISEASE ASSOCIATED WITH GIANT BLADDER
DIVERTICULA
Hasan DELIAGA, Halil TOSUN, Bilge KARABULUT and Tugrul TIRYAKI
University of Health Sciences, Ankara Child Health and Diseases Hematology Oncology Training and Res, Pediatric
Urology, Ankara, TURKEY
PURPOSE
Menkes disease is an X-linked recessive neurodegenerative disease in which the transport of cop-
per is defective. The incidence is 1/254000. The serum copper level is lower than normal ranges.
Copper is an important trace element which is necessary for lysyl oxidase and many other enzymes.
Lysyl oxidase deficiency is associated with fragility in connective tissue and vascular abnormalities.
The deficiency of this enzyme plays the major role in urologic abnormalities appeared in Menkes
disease. Most frequent urologic abnormalities detected are bladder diverticula, vesicoureteral reflux
and hydronephrosis.
MATERIAL AND METHODS
Two year old boy with Menkes disease is evaluated because of recurrent urinary tract infection and
bilateral diverticula of the bladder is detected in voiding cystourethrography. The ureteral orifices
were placed within the diverticula in cystoscopy. Intravesical bilateral diverticulectomy and bilateral
ureteroneocystostomy are performed. The postoperative period was uneventful. On control cystos-
copy there was no recurrence.
RESULTS
Lysyl oxidase is a copper dependent enzyme and is responsible for the morphology of the elastic
fibers in connective tissue. The most frequent urologic abnormality caused in its deficiency in
Menkes disease is bladder diverticula. The reported incidence is 1,7 %. The urologic abnormalities
cannot be prevented but their onset may be delayed by parenteral copper treatment. The diagnosis
is made by voiding cystourethrography. The choice of treatment is surgical excision. Although it is
reported that the diverticula in Menkes disease are not correlated with the ureter orifices that was
not the situation in our case and bilateral ureteroneocystostomy was also performed.
14:06–14:08
S2-4 (CP)
UROTHELIAL TUMORS OF THE BLADDER IN CHILDREN
Alice FAURE, Abdulrahman ARAFAH, Jean-Michel GUYS and Thierry MERROT
Hôpital La Timone Enfant, Paediatric surgery, Marseille, FRANCE
PURPOSE
Urothelial tumors of the bladder are uncommon in pediatric population, rarely happening in the first
two decades of life, and exceptional under 10 years of age. Here, we reported 7 cases regarding
clinical outcomes.
MATERIAL AND METHODS
We retrospectively identified 7 patients 7 to 15 years old (median: 12 years) with urothelial tumors
managed in our center, since 2004. The presentation, diagnostic procedure, treatment and outcome.
Finally, we reviewed the literature to analyze the outcomes and follow-up in the pediatric population.