Journal of Clinical and Diagnostic Research. 2022 Oct, Vol-16(10): PD01-PD03 1 1 DOI: 10.7860/JCDR/2022/56806.16865 Case Report Surgery Section A Rare Case Report of Neurofibromatosis Type 1 with Bladder Ganglioneuroma in a Paediatric Patient CASE REPORT An 11-year-old male child presented to the Paediatric Outpatient Department with complaints of painless, gross, total haematuria, not associated with blood clots or tissue bits, with increased frequency and nocturia since two weeks. He had history of similar haematuria episodes two years ago, which subsided spontaneously. On examination, following findings were noticed- multiple hyperpigmented macules (>6 Café-au-lait spots) and patches (>5 mm) over trunk and thigh [Table/Fig-1], axillary freckling [Table/Fig-2], lisch nodules in both the eyes. A diagnosis of Neurofibromatosis type 1 (NF1) was made based on the Neurofibromatosis Conference Statement published by the National Institutes of Health Consensus Development Conference [1]. Computed Tomography Intravenous Urogram (CT-IVU) was suggestive of a 12×5 mm large irregular heterogenous hyperdense mass lesion in pelvis involving entire urinary bladder wall and bilateral Vesicoureteric Junction (VUJ) causing backpressure changes [Table/Fig-3]. Although rare, neurofibroma of the urinary bladder is the most common urinary tract manifestation of neurofibromatosis 1 and hence, a provisional diagnosis of the same was made based on the history and clinical examination of the patient [2]. On cystoscopy, no intraluminal growth was seen. He underwent exploratory laparotomy during which enlarged mesenteric lymph nodes were noticed. Frozen section biopsy was reported as a ganglioneuroma. Bowel was otherwise healthy without any lesion. There was a 10×5 cm tumour arising from anterior bladder wall and extending posteriorly [Table/Fig-4]. Bilateral ureteric orifices were not involved. Partial cystectomy was done with complete excision of mass. Recovery in postoperative period was uneventful. Histopathology ANKIT VYAS 1 , MAYANK AGARWAL 2 , ALHAD MULKALWAR 3 , SUJATA PATWARDHAN 4 Keywords: Neurogenic tumours, Pressure changes, Intravenous urogram 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. [Table/Fig-1]: Hyperpigmented macules (Café-au-lait spots) over the trunk of the child. [Table/Fig-2]: Axillary freckling seen in the right; a) as well as the left; b) axilla. [Table/Fig-3]: Computed Tomography Intravenous Urogram was suggestive of a 12×5 mm large irregular heterogenous hyperdense mass lesion in pelvis involving entire urinary bladder wall and bilateral Vesicoureteric Junction (VUJ) causing back- pressure changes.