Related Experiment Videos
Neurofibromatosis involving the urinary bladder
A Chakravarti1, M A Jones, J Simon
1Department of Urology, Sandwell General Hospital, Lyndon, West Bromwich, UK. anichak@hotmail.com
Summary
This study details two cases of neurofibromatosis in a man and boy presenting with urinary issues and skin findings. Long-term follow-up showed no tumor growth or obstruction, highlighting the need for careful monitoring.
Area of Science:
- Urology
- Oncology
- Medical Genetics
Background:
- Neurofibromatosis is a genetic disorder characterized by the development of tumors in the nervous system.
- Intrapelvic neurofibromatosis can present with varied symptoms, including lower urinary tract issues.
- Giant intrapelvic neurofibromatosis is a rare manifestation requiring careful clinical evaluation and management.
Observation:
- Two patients, a 24-year-old man and a 14-year-old boy (uncle and nephew), presented with lower urinary tract symptoms, café au lait patches, and subcutaneous nodules.
- Imaging studies revealed a large, irregular lobulated soft tissue mass situated between the bladder and sacrum.
- Diagnostic procedures including cystoscopy, laparotomy, and biopsies confirmed neurofibromatosis involving the urinary bladder.
Findings:
- Histopathological examination confirmed the diagnosis of neurofibromatosis impacting the urinary bladder.
- During long-term follow-up, neither patient exhibited tumor enlargement.
- No upper urinary tract obstruction was observed in either case.
Implications:
- Giant intrapelvic neurofibromatosis, though rare, can present insidiously with lower urinary tract symptoms.
- Meticulous long-term follow-up is crucial for patients diagnosed with giant intrapelvic neurofibromatosis to monitor for potential complications.
- This case series underscores the importance of considering neurofibromatosis in the differential diagnosis of intrapelvic masses presenting with urinary symptoms.