Genitourinary neurofibromatosis in childhood

Neurofibromatosis in children occurs uncommonly and involvement of the bladder is exceedingly rare. The syndrome is transmitted as an autosomal dominant trait and is characterized by cutaneous pigmentation and tumors of neural crest origin. Hypertension has been documented in association with neurofibromatosis in the form of renovascular disease in children and with pheochromocytomas in adults. We report on 2 children with extensive neurofibromas of the bladder, upper tract damage and genital enlargement. One case was misdiagnosed as posterior urethral valves and the other case as clitoral hypertrophy. The literature of urogenital neurofibromatosis is reviewed with particular attention to bladder lesions, hypertension, malignant potential and treatment options.