A rare case of massive NF1 with invasion of entire spinal axis by neurofibromas: case report.
Neurofibromatosis type-1 (NF1) is a type of phakomatosis inherited in an autosomal dominant fashion. Also called 'von Recklinghausen disease' or 'peripheral neurofibromatosis', it comprises 90% of all neurofibromatosis (NF) cases. It is characterized by multiple peripheral nerve sheath tumors of benign character called neurofibromas. Surgical intervention is indicated when myelopathy and motor losses develop in the case of paraspinal neurofibromas, which are frequently localized to the cervical and lumbar regions. The level of surgical intervention required should be carefully considered and should take into account neurophysiological tests of paraspinal neurofibroma cases that allow estimation of the risk that the neurofibromas will invade the complete spinal axis. The best results are obtained with patients showing minimal neurological deficits during the pre-operative period. Little improvement may be expected from the patients who develop complete transection syndrome during the postoperative period. In the present paper, we discuss an NF1 case in which paraspinal neurofibromas were observed along the complete spinal axis of a 32-year-old male patient who arrived at the clinic reporting increasingly intense pins and needles and weakness. We discuss the patient's diagnosis, treatment, and prognosis, and relate this case to the literature.
Sarica
Feyzi Birol
FB
Baskent University Faculty of Medicine, Neurosurgery Department, Adana, Turkey. saricafb@gmail.com
Cekinmez
Melih
M
Tufan
Kadir
K
Erdoğan
Bülent
B
Sen
Orhan
O
Altinörs
Mehmet Nur
MN
D000328:Adult; D018450:Disease Progression; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009456:Neurofibromatosis 1 / Q000473:pathology* / Q000601:surgery; D012720:Severity of Illness Index; D013127:Spinal Nerves / Q000473:pathology*; D013131:Spine