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Hum Pathol. 2008 Nov;39(11):1708-12. doi: 10.1016/j.humpath.2008.02.019. Epub 2008 Jul 24.

Diffuse ganglioneuromatosis and plexiform neurofibroma of the urinary bladder: report of a pediatric example and literature review.

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  • 1Department of Pathology and Laboratory Medicine, Mayo Clinic, Rochester, MN 55905, USA.


As an initial manifestation of neurofibromatosis type 1, isolated neurofibroma of the urinary bladder occurs only rarely in the first 2 decades of life. We report a case of a 6-year-old African-American girl who presented in this manner and was found to have a plexiform neurofibroma as well as diffuse ganglioneuromatosis of the urinary bladder. We describe the clinical presentation, diagnostic procedures, and pathologic features encountered. In addition, we review the literature with respect to etiology, current treatment strategies, and the issue of surveillance for this complex lesion occurring in the pediatric population. Neurofibroma of the bladder should be considered in the differential diagnosis of painless hematuria in childhood. Its presentation in such patients warrants a complete evaluation to establish the diagnosis of neurofibromatosis type 1 and begin long-term surveillance for its associated manifestations. At present, there are no established criteria for the treatment of this rare lesion.

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