Myogenic bladder dysfunction and ureteral obstruction discovered in an adult patient with neurofibromatosis type 1: A case report

Abstract

We present a case of a 44-year-old male with cutaneous manifestations of neurofibromatosis type 1 presenting with long-standing urologic symptoms of uncertain etiology including urinary retention from myogenic bladder failure, chronic kidney disease with evidence of bilateral ureteral obstruction and presenting signs of an obstructing left ureterocele. This patient had a complete urologic evaluation and underwent ileocecocystoplasty with a continent catheterizable channel and bilateral ureteral reimplantation. Surgical excision of a left ureteral mound of tissue demonstrated the presence of a neurofibroma involving the bladder that led to obstruction. To our knowledge, this is the first report of such a presentation.