Isolated orbital neurofibroma in the absence of neurofibromatosis: a case report
Author: Estel·la Rojas
Base Hospital / Institution: Barraquer Ophthalmology Centre
ePoster presentation
Abstract ID: 24-273
Purpose
Our aim is to highlight the possibility of an orbital neurofibroma as a part of the differential diagnosis for orbital tumours, also in the absence of neurofibromatosis type 1 (NF1).
Methods
Case report.
Results
A 22-year-old woman presented a 2-year history of slowly progressive ptosis of her right upper eyelid. On examination, the MRD1 was 1 mm on the right side and 2 mm on the left side. Hertel exophthalmometry was 19 mm on the right side and 16 mm on the left side. Ocular motility was preserved and there was no diplopia. A CT scan revealed a large extraconal lesion with homogeneous and well-defined margins occupying the entire superior orbit from the eyelid to the apex, causing bone remodelling with cortical thinning. An additional MRI was performed showing a predominantly heterogenic lesion with three solid nodules located anteriorly in the eyelid portion of the tumour, at the mid-third and near the orbital apex. On MRI the lesion appeared to be in close contact with the levator palpebrae and superior rectus muscle within the orbital cavity. A biopsy of the tumour through a superior lid crease approach led to the diagnosis of an isolated neurofibroma. Although no genetic testing was conducted, the patient did not present with any other suggestive signs of NF1 such as other neurofibromas, café au lait macules, axillary freckles, optic nerve gliomas or Lisch nodules. Given its probable intimate relationship with the supraorbital nerve and the fact that the patient only presented with moderate ptosis without any further discomfort, no further surgery was pursued and the patient will be followed up annually with MRI.
Conclusion
Neurofibromas are uncommon orbital lesions representing approximately 2-4% of all orbital tumours. Some authors assume these tumours to be pathognomonic for NF1, although there are a few reported cases of isolated neurofibromas in the literature. Treatment decisions depend on the severity of clinical signs and symptoms. In the absence of NF1, they rarely undergo malignant transformation and therefore an expectant policy may be considered.
Additional Authors
| First name | Last name | Base Hospital / Institution |
|---|---|---|
| Rob | van der Veen | Barraquer Ophthalmology Centre |
