Radiological investigation of neurofibromatosis type 2

The radiological findings in six patients fulfilling the criteria of neurofibromatosis type 2 (NF2) were reviewed. Subtle cutaneous lesions were found in three. All patients had bilateral acoustic schwannomas; two had small acoustic tumours and normal hearing. In these patients the presenting symptoms were caused by multiple intracranial meningiomas and spinal neurofibromas, respectively, whereas the remaining four patients presented with hearing loss. Two patients had other cranial nerve tumours. Three patients had rapidly growing multiple intracranial meningiomas; two had multiple spinal neurofibromas and one a spinal meningioma. NF2 is a rare disease with few cutaneous but frequent, typical radiological findings in the central nervous system. The presenting symptom is most commonly hearing loss due to acoustic schwannomas, although symptoms emanating from other intracranial or tumours are not uncommon. The discovery of multiple meningiomas or multiple spinal neurofibromas without cutaneous lesions should initiate a search for acoustic schwannomas even when the patient has normal hearing.