Neurofibroma of the Bladder in a Young Girl with Neurofibromatosis Type 1: Case Report and Review of the Literature

Ya-Chun Hu；Teng-Fu Tsao；Inn-Chi Lee；Pei-Fen Liao；Ji-Nan Sheu

Neurofibromatosis type 1 ； neurofibroma of the bladder ； imaging studies ； urinary tract infection

中山醫學雜誌

35卷1期（2024 / 06 / 01）

49 - 55

英文

Neurofibromatosis type 1 (NF1) is caused by autosomal dominant or a de novo mutation in the NF1 gene. The disorder is associated with a wide variety of complications affecting almost every system of the body. However, NF1 involving the genitourinary system is uncommon. We report a 1-year-3-month-old girl with a history of NF1 who was hospitalized with a febrile urinary tract infection. Imaging studies, including renal ultrasonography and magnetic resonance imaging, disclosed moderate hydroureteronephrosis with bilateral ureteral tortuosity and diffuse wall thickening of the bladder. These findings were compatible with the characteristics of plexiform neurofibroma of the bladder. Herein, we present a young NF1 child with plexiform neurofibroma of the bladder emerging early in life and also review the literature.