Trigeminal Nerve Neurofibroma Presenting as Facial Swelling in Two 3-year-olds

Figure 1
Jonathan Ferro, MS, Stephen J Sozio, DO, MBS, Lilun Li, MD, Sudipta Roychowdhury, MD and Sri Hari Sundararajan, MD


Background: The trigeminal nerve (cranial nerve V) serves a pivotal role in sensory and motor functions within the head and neck. Although trigeminal schwannomas are the most common subtype of cranial nerve tumoral pathology, other peripheral nerve-based tumors can also be encountered, with neurofibroma remaining one of the top considerations in the differential diagnosis of a trigeminal nerve-based lesion. Case presentation: Two unrelated 3-year-old females, one of whom carried a previously established diagnosis of neurofibromatosis type 1 (NF1), presented to the Emergency Department (ED) with similar presentations of facial swelling. Each patient underwent imaging using a combination of ultrasound, Computed Tomography (CT), and/or Magnetic Resonance Imaging (MRI), which revealed underlying tumors as the source of their facial swelling. Based on the tumor’s imaging characteristics, both masses were diagnosed as trigeminal nerve neurofibromas.
Discussion: Nerve-based tumors can be identified by associating their location with an underlying nerve, which can be determined by examining CT or MRI imaging for remodeling or expansion of bony landmarks associated with the affected nerve(s). While schwannoma and neurofibroma share many imaging characteristics, and thus can be challenging to differentiate on imaging, the shape of the mass and relationship with its underlying nerve aid in narrowing the differential diagnosis.
Conclusion: It remains imperative to consider neurofibroma in the differential diagnosis of a nerve-based tumor. Early diagnosis and intervention can profoundly impact the treatment course and prognosis for patients suffering nerve-based tumors.

Published on: November 06, 2023
doi: 10.17756/micr.2023-098

Citation:  Ferro J, Sozio SJ, Li L, Roychowdhury S, Sundararajan SH. 2023. Trigeminal Nerve Neurofibroma Presenting as Facial Swelling in Two 3-year-olds. J Med Imaging Case Rep 7(2): 55-60.