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Pelvic plexiform neurofibromatosis presenting with genital numbness

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Neurofibromatosis type I is a common autosomal dominant inherited disorder of neural crest origin, affecting 1 in 3000 people.1 Plexiform neurofibromas, benign peripheral nerve sheath tumours, are considered pathognomonic of… Click to show full abstract

Neurofibromatosis type I is a common autosomal dominant inherited disorder of neural crest origin, affecting 1 in 3000 people.1 Plexiform neurofibromas, benign peripheral nerve sheath tumours, are considered pathognomonic of neurofibromatosis type I. Pelvic involvement is uncommon and is associated with considerable morbidity.1 A 29-year-old man reported 8 years of progressively increasing left hemiscrotal and gluteal swelling. He had noticed numbness over the penis and scrotum, difficulties with ejaculation and experiencing an orgasm, and perineal pain particularly when trying to ejaculate. He could achieve an erection and had preserved sexual drive, and no bladder or bowel symptoms. He took gabapentin and had never used serotonin-selective reuptake inhibitors. There was no family history of neurofibromatosis type I. General examination was normal with no other cutaneous manifestations of neurofibromatosis type I, suggesting a …

Keywords: plexiform neurofibromatosis; neurofibromatosis presenting; pelvic plexiform; neurofibromatosis; neurofibromatosis type

Journal Title: Practical Neurology
Year Published: 2019

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