55. Ulusal Nöroloji Kongresi

NOROKONGRE 2019


 
NEUROFIBROMATOSIS TYPE 1 RELATED MULTIPLE PLEXIFORM NEUROFIBROMAS: A CASE REPORT
TAMER BAYRAM 1 DERYA BAYRAM 2 HÜLYA TİRELİ 3

1- İSTANBUL FATİH SULTAN MEHMET EAH
2- İSTANBUL SANCAKTEPE ŞEHİT PROF. İLHAN VARANK EAH
3- İSTANBUL HAYDARPAŞA NUMUNE EAH
 
Olgu:

Neurofibromatosis (NF) is a dominantly inherited disorder caused by mutations of the NF 1 or NF 2 gene which is respectively located at chromosome 17q11.2 and 22q12.2. Loss of neurofibromin which is an inactivator of protooncogen Ras leads to increase in tumorigenesis. Therefore patients are predisposed to have central nervous system tumors, especially gliomas are the most common neoplasms in Neurofibromatosis Type 1 (NF1). Plexiform neurofibromas (PN) also occur in people with NF1 and are the complications of Type 1 (NF1). Clinical symptoms of neurofibromas which may occur almost anywhere in the body vary according to localization of tumors. Impairment of vision, pain, muscle atrophy, paresthesia and weakness were reported in the patients with both NF1 and NF2. We have presented seventeen years old boy with undiagnosed NF1 related multiple plexiform neurofibromas. His cervical, thoracic and especially lumbosacral spinal MRI was demonstrative and showed nearly in all spinal segments plexiform neurofibromas. He was admitted to our department due to left limb paresthesia after being asymptomatic for many years.