Posterior fossa tumors in children with neurofibromatosis type 1 (NF1).

BACKGROUND: Tumours of the posterior fossa associated with neurofibromatosis type 1 (NF1) are very infrequent. Series studying this association are seldom reported.

PERSONAL EXPERIENCE: In a series of 600 NF1 patients studied during 39 years (1965-2004) only five (0.83%) had posterior fossa tumours. They were studied clinically, radiologically by computerized tomography (CT) or magnetic resonance (MR) and histologically. Four of them had astrocytomas but only in one case was the tumour primarily cerebellar while the tumour was primarily of the brain stem with invasion of the adjacent regions of one or both cerebellar hemispheres in three patients. The fifth tumour was a medulloblastoma that had a survival of 3 years following treatment. The patient with primary cerebellar astrocytoma is apparently cured 7 years after the removal of the tumour. The patients with the brain stem tumours extending to the cerebellum, showed a chronic slowly progressive cerebellar disease, but remain alive at age of more than 20 years (one was lost to follow-up).

DISCUSSION AND CONCLUSION: The aim of this study was to present five children (one male and four females) less than 16 years of age when they were initially seen in our service, who had NF1 associates with posterior fossa tumours. This location is very uncommon in patients with NF1, in contrast with those located in other regions, such as pathway optic tumours and brain stem tumours. Most of these tumours are histologically benign (low grade astrocytomas). Only one patient in this series had a medulloblastoma, an exceptionally rare tumour seldom reported in patients with NF1.