[Natural evolution of neurocutaneous syndrome in adults]

Neurofibromatoses (NF1 and NF2) are genetic diseases with an extremely wide range of manifestations, particularly NF1. In order to gain insight into their prognosis, we have conducted a follow-up study of 100 patients with neurofibromatoses, 89 NF1 patients and 11 NF2 patients all of them presenting neurological manifestations. Four deaths occurred in the NF1 group (3 neurofibrosarcomas) and two in the NF2 group (after neurosurgery). We describe a series of NF1 brainstem tumors as being pilocytic astrocytomas, much less aggressive than non-NF1 brainstem tumors but more symptomatic than brainstem UBOs ('unidentified bright objects') in NF1. The series of optic nerve tumors also demonstrate the poor and non-progressive evolution of tumors with the same histopatological estructure. Hydrocephalus related to aqueductal stenosis is a frequent and tratable manifestation in NF1 patients. Data are presented which suggest that a severe form of NF2 is much more frequent than a mild form but it is rule that number and progressivity of tumors render the prognosis always severe in NF2 patients. A long term follow-up study has been carried among 20 patients with tuberous sclerosis: patients who presented seizures before the age of 5 years have mental retardation in spite of disappearing, often spontaneously, the seizures. The initial symptoms in Von Hippel-Lindau patients depend often on the hemangioblastoma of the spinal cord and a strict control is proposed for patients with risk of suffering spinal-cerebello-retino hemangioblastomatosis. Other phakomatoses are also being considered in their general prognosis.