The orbital facial manifestations with dysplasic neurofibromatosis. Study of three personal cases

A. Pou Serradell

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We report three cases of neurofibromatosis (NF) with orbitofacial topography studied with computed axial tomography, plain X-Ray tomography and biopsy. All three cases showed different clinical manifestations according to the location of the dysplasic lesions. The first patient, a girl age 13, had a plexiform neuroma of the upper lid, facial hemihypertrophy and an associated anomaly of the facial bones, all of them on the left side. The second case, a boy 8 years old, presented with a plexiform neuroma of the orbit and a malformation of the posterior wall of the orbit, both on the left side. The third case corresponds to a young woman, age 30, with a lateral facial dysplasia (hemifacial microsomia). In all three cases a diagnosis of NF was established. The first patient has a positive family history of NF and variable clinical expressivity. The third case displays also signs of tuberous sclerosis and in the second case hemihypertrophy of the brain is detected. Taking into consideration the different parts of the cephalic neural crest (CNC) we propose the classification of these malformations according to the supposed segmental localization of the genetic anomalies during embrionic development. The first and third cases would correspond to an anomaly of third posterior NC similar to the first and second branchial arch syndromes and the second case would represent an anomaly of the anterior CNC. These cases confirm again the imprecise limits of NF, and its nosological situation within the malformations of the nervous system and the anomalies of facial osteogenesis. Finally our third case is exceptional in that it shows signs distinctive of two phacomatosis and even a facil angioma as seen in S W disease.
Original languageEnglish
Pages (from-to)13-30
JournalRevista de Neurologia
Issue number48
Publication statusPublished - 1 Jan 1983


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