Turkish Neurosurgery
2008 , Vol 18 , Num 1
A Rare Case of Massive NF1 with Invasion of Entire Spinal Axis by Neurofibromas: Case Report
Baskent University Faculty of Medicine, Neurosurgery Department, Adana, Turkey
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.
Keywords :
Dumbbell tumour formation, Massive neurofibromatosis, Multiple neurofibromatosis, Nerve sheath tumor, Neurofibromatosis type-1, Surgical approach