A Rare and Unusual Presentation of Neurofibromatosis Type 1: Using Available Tools To Distinguish Neurofibromas From Mimicking Pathologies on CT Scan and MRI

Neurofibromatosis type 1 (NF-1) is the most common neurocutaneous syndrome. Despite its more common appearance relative to other phakomatoses, it has a large variety of disease manifestations that can, at times, make swift diagnosis more challenging if not readily recognized, especially when presenting in an atypical manner. Our case reveals an unusual presentation of NF-1. After initially presenting with a bug bite on the lip with progressive swelling and surrounding inflammatory changes despite treatment with oral antibiotics, a CT scan was performed and demonstrated inflammatory changes surrounding the lip with an adjacent inflammatory mass lesion. Due to hypoattenuating lesions within the retropharyngeal space and misinterpretation by the otorhinolaryngologist, aspiration was attempted but unsuccessful, and the patient’s condition worsened. Subsequent MRI was able to confirm the presence of numerous neurofibromas. The patient gradually improved on an extended course of antibiotics and was discharged in stable condition. Familiarizing oneself with the more specific imaging characteristics of this relatively common neurocutaneous disorder can help prevent incorrect or delayed diagnosis and ensure proper management. Furthermore, identifying these features on CT scan and MRI can differentiate them from other mimicking pathologies on each modality. Recognition of a scarcely reported infected neurofibroma as an established diagnostic entity could be important to include in the differential of similar cases in the future and subsequently aid in proper diagnosis and management.