Neurology India
menu-bar5 Open access journal indexed with Index Medicus
  Users online: 3976  
 Home | Login 
About Editorial board Articlesmenu-bullet NSI Publicationsmenu-bullet Search Instructions Online Submission Subscribe Videos Etcetera Contact
  Navigate Here 
 Resource Links
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
    Article in PDF (1,461 KB)
    Citation Manager
    Access Statistics
    Reader Comments
    Email Alert *
    Add to My List *
* Registration required (free)  

  In this Article
   Article Figures

 Article Access Statistics
    PDF Downloaded25    
    Comments [Add]    

Recommend this journal


Table of Contents    
Year : 2021  |  Volume : 69  |  Issue : 5  |  Page : 1273-1274

A Rare Case of Cranio-Orbital-Temporal Neurofibromatosis

Department of Radiodiagnosis, Mahatma Gandhi Medical College and Research Institute, Puducherry, India

Date of Submission16-Feb-2021
Date of Decision12-Apr-2021
Date of Acceptance05-May-2021
Date of Web Publication30-Oct-2021

Correspondence Address:
Shailendra S Naik
Department of Radiodiagnosis, Mahatma Gandhi Medical College and Research Institute, Puducherry
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0028-3886.329554

Rights and Permissions

How to cite this article:
Das N, Naik SS, Joseph K T. A Rare Case of Cranio-Orbital-Temporal Neurofibromatosis. Neurol India 2021;69:1273-4

How to cite this URL:
Das N, Naik SS, Joseph K T. A Rare Case of Cranio-Orbital-Temporal Neurofibromatosis. Neurol India [serial online] 2021 [cited 2021 Dec 4];69:1273-4. Available from:

A 23-year-old female patient presented to the ophthalmology department with enophthalmos of the left eye since birth [Figure 1]. History revealed that the swelling increased in size during puberty with no associated pain. No evidence of previous imaging or family history was present. Clinical examination revealed the enophthalmos with blepharospasm of the left eye. There was a boggy swelling noted over the left upper eyelid on the lateral aspect. Bilateral visual acuity was normal with normal movements of the left eyeball. No iris nodules (lisch nodules) were seen. On general and systemic examination, no cutaneous nodules, hyperpigmentation, or skeletal abnormality was detected. A clinical suspicion of carotico-cavernous fistula and/or orbital varices with eye lid hemangioma was made and the patient was sent for radiological correlation. Contrast-enhanced Computed tomography (CT) scan, Magnetic resonance imaging (MRI), and skull radiographs of the orbit and face revealed a rare form of the phacomatoses. Axial contrast-enhanced CT scan of the head [Figure 2] demonstrated enlargement of the left middle cranial fossa with secondary encroachment on the left orbit. The greater wing of the sphenoid was seen to be dysplastic and associated with a wide superior orbital fissure. Plain X-ray of the skull PA [Figure 3] revealed a well-defined region of cranial vault thinning of the left frontal bone, with the absent innominate line in the left orbit.
Figure 1: 23-year-old female patient with left-sided pulsatile enophthalmos

Click here to view
Figure 2: Axial contrast CT head showing (a) minimally enhancing soft tissue density lesion occupying the antero-medial left periorbital region (blue arrow) extending along the frontal process of left zygoma (red arrow). (b) Absent orbital process of the left greater wing of the sphenoid bone, gapping bony defect in the posterior aspect of the orbit (yellow arrow)

Click here to view
Figure 3: Plain radiograph (a) AP view and (b) lateral view of skull showing left-sided “bare orbit sign”

Click here to view

Axial T2-weighted and Short tau inversion recovery Magnetic resonance imaging (STIR MRI) [Figure 4] demonstrates “herniation” of the left temporal lobe into the posterior aspect of the left orbit. Abnormal thickening of the left upper eyelid was seen on T2W/STIR images as uniformly hyperintense, resembling the appearance of a plexiform neurofibroma.
Figure 4: (a) T2W axial MR and (b) STIR show hyperintense signals within the soft tissue lesion occupying the left periorbital region (blue arrows) and temporal lobe herniation into the orbital fossa (red arrow) causing compression of the optic nerve and orbital contents (yellow arrow)

Click here to view

A volume rendering technique was used to confirm the absence of the orbital process of the left greater wing of the sphenoid [Figure 5]. Based on the imaging findings of the dysplastic left greater wing of the sphenoid and plexiform neurofibroma of the lid, a diagnosis of cranio-orbito-temporal neurofibromatosis type 1 was made.
Figure 5: Volume rendering technique used shows absent orbital process of the left greater wing of sphenoid on (a) coronal section and (b) axial sections

Click here to view

Neurofibromatosis is one of the common inherited neurocutaneous syndromes encountered in clinical practice.[1] Sphenoid wing dysplasia is seen in 5%–10% of NF-1 cases. Cranio-orbital neurofibromatosis is a rare uncommon subtype of NF-1 characterized by pulsatile exophthalmos, orbital neurofibromas, sphenoid wing dysplasia, expansion of the temporal fossa, and herniation of the temporal lobe into the orbit, all of which were present in our patient.[2]

According to the review of the literature regarding this entity, the absent sphenoid wing is not a congenital condition. It may progress and eventually become typical sphenoid bone dysplasia. The isolated variety presents in adulthood with cranio-orbito- facial abnormalities and is strongly associated with the plexiform type of neurofibromatosis.[3] Sphenoid dysplasia is one of the “distinctive” bone lesions seen in approximately 5%–10% of NF-1 patients, which is also used as a diagnostic feature in the NIH criteria.[2] Surgical correction of the bony defect and excision of the neurofibroma can benefit the patient in this case and radiologists and nonphysicians should be aware of the condition so genetic counseling can be advised.[4]

Financial Support and Sponsorship


Conflicts of Interest

There are no conflicts of interest.

  References Top

Acharya N, Reddy MS, Paulson CT, Prasanna D. Cranio-orbital-temporal neurofibromatosis: An uncommon subtype of neurofibromatosis type-1. Oman J Ophthalmol 2014;7:43-5.  Back to cited text no. 1
[PUBMED]  [Full text]  
Prathibha S, Parasar V, Yasmin S, Pramila VS. A multidisciplinary approach to sphenoid wing dysplasia presenting with pulsatile proptosis in neurofibromatosis Type 1: A rare case report. Indian J Ophthalmol 2018;66:157-60.  Back to cited text no. 2
[PUBMED]  [Full text]  
Binet EF, Kieffer SA, Martin SH, Peterson HO. Orbital dysplasia in neurofibromatosis. Radiology 1969;93:829-33.  Back to cited text no. 3
Jacquemin C, Bosley TM, Svedberg H. Orbit deformities in craniofacial neurofibromatosis Type 1. Am J Neuroradiol 2003;24:1678-82.  Back to cited text no. 4


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]


Print this article  Email this article
Online since 20th March '04
Published by Wolters Kluwer - Medknow