A Rare Case Report of Neurofibromatosis Type 1 with Bladder Ganglioneuroma in a Paediatric Patient

Abstract

Neurofibromatosis type 1 (NF1) is a rare Autosomal Dominant (AD) disease manifesting in paediatric age group with an incidence of 1/3500 births. It has a varied clinical presentation most commonly involving skin followed by the skeletal and central nervous systems. Genitourinary involvement is very rare. Peripheral neuroblastic tumours are classified into Neuroblastomas (NB), Ganglioneuroblastomas (GNB) and Ganglioneuromas (GN). They are classified according to their stage of maturation in a spectrum, which starts from NB, the most primitive form, and extends to GN, the most mature form. The authors hereby present a rare case report of a paediatric patient presenting with NF1 features and a bladder ganglioneuroma. The 11-year-old male child presented with a history of haematuria since two weeks accompanied with increased micturation frequency and nocturia. Neurocutaneous markers suggestive of a diagnosis of Neurofibromatosis type 1 were observed during clinical examination. Computed Tomography Intravenous Urogram (CT-IVU) revealed a large irregular pelvic mass involving the wall of the urinary bladder. Enlarged mesenteric lymph nodes were observed during exploratory laparotomy, frozen section bipopsy of which was reported as ganglioneuroma. Partial cystectomy was performed along with complete excision of the mass. Histopathological examination confirmed the diagnosis of bladder ganglioneuroma.