Craniofacial neurofibromatosis: a roentgen profile.

Abstract

ABSTRACTMultiple radiographic projections were employed to study osseous abnormalities of the skull in twenty cases of craniofacial neurofibromatosis. Calvarial defects in the lambdoid suture were observed in eight cases. Large midline defects produced a cranium bifidum appearance in one case. Mandibular changes consisted of hypoplasia with flattening of the external contour, thinning of the body and the ramus and widening of the medial and lateral coronoid spaces. Mandibular overgrowth with a convex outer contour and increase in the vertical height was seen in one case and a large cystic lesion around three unerrupted molar teeth was seen in another case. Abnormalities were also observed in the zygomatic arch and the mastoid process. The tympanic bone was absent in three cases. A 20 degree occipitomental projection best demonstrated these abnormalities. Orbital changes consisted of enlargement, outwardly curved innominate line, indistinct lower part of the innominate line, elevated lesser wing of the sphenoid, irregular enlargement or obliteration of the superior orbital fissure and intraorbital calcification. The pituitary fossa was enlarged in two cases without evidence of raised intracranial tension. Macrocranium was observed in one case. Functional disabilities observed in some cases were conductive deafness, loss of vision, cranial nerve palsies and mental retardation. Carotid angiograms done in three cases showed tortuous branches of the external carotid artery feeding the plexiform scalp lesions. A fourth ventricle tumour was seen on ventriculography in one case which presented with hemiplegia and cerebellar signs and symptoms. Skeletal abnormalities corresponded closely to the locations of soft tissue masses indicating developmental interdependance of neuroectodermal and mesodermal derivatives.