Hiperplasia facial y cerebral unilateral asociada a neurofibromatosis tipo 1. Presentación de cuatro pacientes

Abstract

Plexiform neurofibroma in any location is one of the commonest complications associated with neurofibromatosis type 1 (NF1). Plexiform neurofibroma of the upper eyelid and orbit is usually associated with ipsilateral hemifacial hyperplasia. We present four patients with NF1 and plexiform neurofibroma of the eyelid and orbit associated with hemifacial hyperplasia, who also showed hyperplasia of the unilateral cerebral hemisphere. There are four patients, three females and one male, who consulted because of NF1 with plexiform neurofibroma of upper eyelid and hemifacial hyperplasia. Upper eyelid involvement was observed since birth and progressed during the first years of life. The patients showed normal neurological and mental development without motor or cerebellar disorders. Magnetic resonance studies demonstrated the asymmetric hyperplasia of the ipsilateral hemisphere in all four cases and of the cerebellar hemisphere in one case. The degree of hemispheric hyperplasia was related to the size and extension of the plexiform neurofibroma, as well as to the severity of the hemifacial hyperplasia. In our case which had the plexiform neurofibroma extended to the neck and the upper thorax, the hyperplasia not only affected the cerebral hemisphere but also the ipsilateral cerebellar hemisphere. All parts of the hemisphere showed increased size. The cortex of the entire hemisphere showed normal differentiation of the subcortical white matter. NF1 appears to be related with facial and cerebral ipsilateral hemihyperplasia. The relation between the size and extension of the orbital, eyelid and facial plexiform neurofibroma and the degree of asymmetry of the hemispheric hyperplasia suggest that different influences of a still unknown agent, possibly a gene, obviously related to NF1, causes both the intracranial and extracranial abnormalities.