Two cases of spinal tanycytic ependymomas occurring in brothers with a neurofibromatosis type 2 gene mutation.

Tanycytic ependymomas are a rare spinal cord tumour arising from tanycyte cells lining the ventricle or spinal central canal. This is the first report of familial spinal tanycytic ependymoma occurring in two first degree relatives. Both patients underwent surgical resection of the intra-medullary tumours with good overall recovery. Genetic analysis identified that the brothers shared a previously unreported mutation in the NF-2 gene. NF-2 mutations in spinal tanycytic ependymomas may be more common than initially thought and consideration should be given to screening the neural axis for other tumours and genetic counselling.

Familial colloid cysts of the third ventricle: case report.

OBJECTIVE AND IMPORTANCE: Familial colloid cysts of the third ventricle are very rare. This is the largest family reported and the first in which all affected members are female and all members have been screened. Screening led to the diagnosis of an asymptomatic case of a colloid cyst of the third ventricle, and the management of that lesion is discussed. CLINICAL PRESENTATION: A mother and two daughters who were diagnosed with colloid cysts of the third ventricle, from a family containing four sisters, three brothers, and the father, are presented. INTERVENTION: The index patient (Patient 2) underwent computed tomographic scanning-guided stereotactic transcallosal excision of her colloid cyst. Her siblings and her father were screened using magnetic resonance imaging as well as computed tomographic scanning. Cytogenetic analysis of blood samples obtained from the patient and her family revealed no chromosomal abnormalities. CONCLUSION: Screening is of value for families in which two or more members are affected. The management of asymptomatic cases is influenced by the lesion size and the age and fitness of the patient.