Spinal ependymomas in neurofibromatosis Type 2: a retrospective analysis of 55 patients.

Object: The aim of this paper was to define the clinical characteristics of spinal ependymomas associated with neurofibromatosis Type 2 (NF2).

Methods: The authors retrospectively reviewed the clinical records of patients with NF2 who had imaging findings consistent with ependymomas and were seen at Massachusetts General Hospital between 1994 and 2007. Clinical characteristics of these patients were obtained from hospital records, imaging studies, surgical reports, and pathology reports.

Presymptomatic genetic testing in children for neurofibromatosis 2.

Genetic testing in children, when there is a question of whether or not there is a clear medical benefit that will accrue to the child, is a controversial topic within the health care community. A convenience sample of 10 parents from nine families who had made the decision whether or not to test their children for the neurofibromatosis 2 gene mutation was asked in interviews to describe why they made their choice about presymptomatic testing for this late-onset disease. Findings from a narrative analysis revealed how the nine parents who tested or intended to test their young children saw the decision as a pathway to knowledge that would help the family unit.