Rink R C, Mitchell M E
J Urol. 1983 Dec;130(6):1176-9. doi: 10.1016/s0022-5347(17)51743-7.
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.
神经纤维瘤病在儿童中并不常见，累及膀胱的情况极为罕见。该综合征以常染色体显性特征遗传，其特点是皮肤色素沉着和神经嵴起源的肿瘤。高血压与神经纤维瘤病有关，在儿童中表现为肾血管疾病，在成人中表现为嗜铬细胞瘤。我们报告2例患有广泛膀胱神经纤维瘤、上尿路损害和生殖器增大的儿童。1例被误诊为后尿道瓣膜，另1例被误诊为阴蒂肥大。本文回顾了泌尿生殖系统神经纤维瘤病的文献，特别关注膀胱病变、高血压、恶性潜能和治疗选择。
