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S3-13
(CP)
UROLOGICAL COMPLICATIONS OF VON RECKLINGHAUSEN
NEUROFIBROMATOSIS
Eric DOBREMEZ
1
, Yan LEFEVRE
2
, Aurore BOUTY
3
and Luke HARPER
4
1) CHU de BORDEAUX, Pediatric Surgery, Bordeaux, FRANCE - 2) CHU de Bordeaux, Pediatric Orthopedic Surgery,
Bordeaux, FRANCE - 3) Royal Children's Hospital, Pediatric Urology, Melbourne, AUSTRALIA - 4) CHU La Réunion,
Pediatric Surgery, Saint Denis De La Réunion, FRANCE
PURPOSE
Von Recklinghausen neurofibromatosis is a rare genetic disease with variable phenotypic expression, in which patients
develop tumors along the nerves. Malignant degeneration occurs in 20% of cases. Urological manifestations are rare.
We report four such cases.
MATERIAL AND METHODS
1st case: A boy aged 5, with cervical, cephalic, thoracic and spinal localisations of neurofibromatosis developed a
neurogenic bladder by thoracic spinal compression. Clean intermittent catheterization (CIC) was impossible. A
cystostomy button was inserted under local anaesthesia, and botulinum toxin-A (BTA) injections were performed by the
stoma. The situation has been stable for 6 years.
2nd case: A girl aged 6 with bladder neck compression due to pelvic neurofibromatosis. She experienced recurrent
episodes of pyelonephritis due to urinary obstruction. She underwent a continent cystostomy (Mitofanoff), which failed
rapidly because of invasion of the conduct. A pelvectomy and non-continent diversion was hence performed.
3rd case: A girl aged 9 with posterior fossa tumor. After surgical resection, she experienced meningitis resulting in
central neurogenic bladder as a sequel. She is treated by CIC and BTA injections.
4th case: A boy diagnosed at age 3 with "café au lait" spots, developed at age 12 a neurogenic bladder due to thoracic
spinal compression. He was treated by CIC, then diversion until his death by cancer.
RESULTS
The most common presentation is related to spinal compression. But these tumours originate from the nerve plexus of
the bladder and bladder neck can invade the urinary tract.
CONCLUSIONS
Because of the rarity of this disorder, no guidelines are available for it's management. Multidisciplinary discussion is
required before surgical treatment.