A 10-year-old Indian male with short stature and skeletal deformities presented. Height 120 cm; blood pressure normal. There were multiple café au lait spots of more than 5 mm on the thorax, abdomen, and back skin (see Figure 1). Axillary and inguinal freckling was absent. The left side of the face had hypertrophic deformity due to the plexiform neurofibroma in the maxillary and mandibular region (see Figure 2C). The left upper eyelid had an S-shaped deformity and ptosis (see Figure 2A). On palpation it felt worm-like, consistent with the plexiform neurofibroma. There was marked proptosis and globe enlargement of the left eye (see Figure 2B and 3).The axial lengths of the right and left eye globe were 22.19 mm and 27.99 mm, respectively. The left eye corneal horizontal and vertical diameters were 13 mm each; the right eye corneal horizontal and vertical diameters were 11 mm each. The best corrected visual acuities of the right and left eye were 20/20 and 20/100, respectively. Extra ocular motility was normal. The right and left pupils were 3 mm and 6 mm, respectively. Afferent pupillary defect was noted in the left eye. Intraocular pressure (IOP) in the right eye and left eye were 12 mmHg and 28 mmHg, respectively. The right eye fundus examination was normal. The left eye fundus examination showed advanced glaucomatous cupping (see Figure 4).
A computed tomography (CT) scan and x-ray of the head and orbit were carried out to investigate a possible optic nerve, orbital, or intracranial involvement.
A skull PA x-ray and lateral view showed an enlarged left orbit with distortion of greater and lesser wings of left sphenoid bone secondary to dysplasia/hyperplasia. The central bony orbit also showed altered to poorly appreciated bony landmarks, thus giving the appearance of bare orbit (bare orbit sign) (see Figure 5).
Computed tomography brain
scan A CT brain scan showed absent to hypoplastic greater wing and, to some extent, lesser wing of left sphenoid bone with resultant direct communication of soft tissues of orbit with the left temporal fossa (see Figure 6).
Coronal reformatted bone window images of the anterior skull base showed absent sphenoid wings (see Figure 7).
There was mild abnormal dilatation of the left lateral ventricle with square box appearance of frontal horn. The rest of the ventricles appear unremarkable. No obvious periventricular ooze was seen. There was small curvilinear cerebrospinal fluid density, extra axial cystic lesion seen anterior to left temporal lobe without mass effect, or midline shift consistent with arachnoid cyst (see Figure 8).There was gross left proptosis with a relatively enlarged left globe; however, the left globe was normal in shape and attenuation. Ill-defined extra conal soft tissue was noted in the left orbit. Therefore, it was considered that the presence of a neurofibroma was causing proptosis of the left eye globe. Three-dimensional (3D) CT volume rendered technology images of the skull showed an enlarged left orbit with deficient postero-superior wall of the left orbit consistent with absent to hypoplastic sphenoid wing (see Figure 9).