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Final ID: Poster #: CR-01 (R)

A diffuse form of neurofibromatosis of the bladder in a new born: radiological presentation of a case

Purpose or Case Report: Objective: to report an unsual presentation of neurofibromatosis involving the genito-urinary tract. Bladder involvement was the initial presentation of a Von Recklinghausen disease in a new born for whom the family disease was initially unknown by the medical staff.
Methods & Materials: We report an exceptional case of a new born girl who presented with antenatal left hydronephrosis on ultrasound at 36 weeks LMP ( last menstrual period). Post natal US and MRI performed the first month of life revealed a diffuse nodular bladder thickening, progressing on the follow up examinations and showing trigone involvement with bilateral uretero- hydronephrosis. Cystoscopy revealed a nodular thickening of the bladder wall, hiding both ureteral ostia. Bilateral nephrostomy and secondarily left ureterostomy have been performed. Bladder biopsy diagnosed a plexiform neurinoma.
Results: At 6 month old, the child does not suffer from secondary localization but shows delayed growth. She is medically treated by a drug on trial. Surgical indication has not been decides yet. Retrospectively, family research revealed that many members are suffering from neurofibromatosis ( grand father, father, 2 brothers, uncle and aunt)
Conclusions: Unique teaching point: in neonatal period the first diagnosis to raise when there is a nodular thickening of the bladder wall is rhabdomyosarcoma. Plexiform neurofibroma is a very rare diferential diagnosis . The incidence of Von Recklinghausen is 1 in 3000 living births, howeverurinary manifestations are rare, and exceptional in neonatal period.
Session Info:

Electronic Exhibits - Case Report (Radiographer)

Fetal Imaging / Neonatal

Radiographer Scientific Exhibits - Case Reports

More abstracts on this topic:
Pediatric Bladder Masses: What The Radiologist Needs To Know

Edwards Emily, Zapala Matthew, Copp Hillary, Mackenzie John, Phelps Andrew, Courtier Jesse

Pediatric Urinary Bladder Masses and Pseudo-masses: A Pictorial Review with Emphasis on Ultrasound Findings

Gokli Ami, Barrera Christian, Bellah Richard

More abstracts from these authors:
Vitamin K deficiency with intracranial hemorrhage: let’s check the gallbladder

Biscaye Stephanie, Albertario Marco, Guesmi Myriam, Leloutre Beatrice, Occelli Aurelie, Boyer Corinne

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