Pelvic plexiform neurofibromatosis presenting with genital numbness

Autor: Sachit Shah, Jai Seth, Mahreen Pakzad, Shazia K. Afridi, Lap Yan Leung, Jalesh N. Panicker
Rok vydání: 2019
Předmět:
Zdroj: Practical Neurology. 20:165-166
ISSN: 1474-7766
1474-7758
DOI: 10.1136/practneurol-2019-002375
Popis: 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 …
Databáze: OpenAIRE