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William F. Coughlin, MD; Michael Culliton, MD; Beverly P. Wood, MD
Am J Dis Child. 1993;147(7):789-790. doi:10.1001/archpedi.1993.02160310091026.
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A 3½-year-old girl presented for evaluation of urinary incontinence that had progressed in 3 months from nocturnal enuresis to daytime incontinence. Initial abdominal examination suggested a large amount of hardened rectal stool, and the patient was treated for constipation with serial enemas. However, treatment effected no change in clinical symptoms, and a firm lower abdominal mass persisted. Results of urinanalysis and hemoglobin, hematocrit, and screening electrolyte values were all within normal range. The patient was referred to the radiology department for a pelvic ultrasound study (Fig 1) and cystourethrogram (Fig 2).

Denouement and Discussion 

Neurofibromatosis of the Bladder  Neurofibromatosis is a disorder of neural crest-cell origin with characteristic manifestations affecting cutaneous and mesodermal tissue. It is a heritable autosomal dominant defect with variable penetrance and a high spontaneous mutation rate. This patient had a family history of neurofibromatosis and, on examination, multiple small café au lait spots were present on her back and extremities. After medical and urologie evaluation, she underwent surgery, whereupon extensive tumoral involvement of the bladder necessitated a radical urinary cystectomy andureteral diversion.

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