MR imaging of asymptomatic brainstem and spinal cord lesions in sisters with neurofibromatosis.

Two sisters, ages 37 and 26 years, developed bilateral acoustic neuromas and multiple intracranial meningiomas. Their mother and two other siblings also had bilateral acoustic neuromas. During a routine MR study of the brain of the older sister, an abnormality (possibly a mass) was found at the cervical medullary junction. This patient had no symptoms referable to this area, and postoperative changes were extensive. Therefore, we decided to follow the patient clinically and to obtain another MR study later. She eventually developed symptoms in her right leg , and the MR study was repeated (Fig. 1). A cystic brainstem glioma was discovered and drained during surgery . The younger sister underwent a routine MR study of the brain and spine. A large expansile lesion was discovered arising from the medulla and extending inferiorly to the level of the C2 vertebral body (Fig . 2). In addition , three cystic intramedullary lesions, which later proved to represent syringohydromyelia , were found in the thoracic and lower cervical spinal cord . The patient had no symptoms referable to her lesions and was followed clinically. The younger sister developed ataxia 1 year later, but a repeat MR study showed no detectable changes in the previously seen lesions. The older sister remains asymptomatic at 1-year follow-up , although reoccurrence of the cystic brainstem lesion was shown by follow-up MR.