Neurofibromatosis types 1 and 2: cranial MR findings.

Abstract

Neurofibromatosis 1 (NF-1) (von Rekhlinghausen disease) and neurofibromatosis 2 (NF-2) (bilateral acoustic neurofibromatosis) have been recently recognized to be distinct disorders through genetic linkages. The authors compared the cranial magnetic resonance (MR) images of 53 patients with NF-1 and 11 with NF-2. In the NF-1 group, MR imaging revealed 19 patients with optic gliomas and eight with parenchymal gliomas. In 32 patients, foci of prolonged T2, similar to those reported previously as hamartomas, were identified in the cerebellar peduncles, globus pallidus, midbrain, and other locations. The frequency of these foci was related to both age and the presence of optic gliomas. In the NF-2 group, MR imaging revealed eight patients with cranial nerve schwannomas and six with meningiomas (in addition to acoustic schwannomas in all 11). These findings demonstrate that NF-1 and NF-2 are different diseases requiring different imaging protocols. NF-1 seems to be associated with tumors of astrocytes and neurons and NF-2 with tumors of meninges and Schwann cells.

Malignant Schwannoma of the Sciatic Nerve Originating in a Spinal Plexiform Neurofibroma Associated With Neurofibromatosis Type 1. Case Report.

“…His family contained no history of NF1. The patient had caf áe au lait spots and a few neurofibromas on the skin, but no Lisch nodules or posterior subcapsular cataracts 1,22) or other diseases associated with NF1. 22,25,31) He had no history of previous radiotherapy or surgery at the site of lesion.…”

“…7,25) NF type 1 (NF1) is an autosomal dominant disease of the neurons and astrocytes 1,22,25) whereas type 2 (NF2) is a disease of the sheathing of the central nervous system. 1,22) Patients with NF1 tend to develop neurofibromas, whereas patients with NF2 harbor schwannomas.…”

“…7,25) NF type 1 (NF1) is an autosomal dominant disease of the neurons and astrocytes 1,22,25) whereas type 2 (NF2) is a disease of the sheathing of the central nervous system. 1,22) Patients with NF1 tend to develop neurofibromas, whereas patients with NF2 harbor schwannomas. 1,18) NF1 is also associated with pheochromocytoma, 7,25) nephroblastoma, 3,32) ganglioneuroma, 5,32) brain tumors, 16,22) and non-neural crest malignancies such as rhabdomyosarcoma 3,32) and acute nonlymphoblastic leukemia.…”

“…1,22) Patients with NF1 tend to develop neurofibromas, whereas patients with NF2 harbor schwannomas. 1,18) NF1 is also associated with pheochromocytoma, 7,25) nephroblastoma, 3,32) ganglioneuroma, 5,32) brain tumors, 16,22) and non-neural crest malignancies such as rhabdomyosarcoma 3,32) and acute nonlymphoblastic leukemia. 3,19,32) Sarcoma developing within a peripheral nerve or a previous neurofibroma is rare and is known as malignant schwannoma, malignant peripheral nerve sheath tumor (MPNST), neurofibrosarcoma, or neurogenic sarcoma.…”

Magnetic resonance findings of neurofibromatosis type 2: a case report

“…Mautner et al studied 48 patients with NF2, in which the prevalence of findings were: vestibular schwannomas (CN VIII) in 46 (96%), spinal tumors in 43 (90%), posterior subcapsular cataracts in 30 (63%), meningiomas in 28 (58%), and trigeminal schwannomas in 14 (29%) [9]. Aoki et al[10] reported cranial MR of 11 patients. In their series, all patients had acoustic schwannomas, 8 had other cranial nerve tumors (5 multiple and 3 single) and 6 had meningiomas (4 multiple and 2 single).…”