Intraocular neuromuscular choristoma: a case report and literature review

Neuromuscular choristomas (NMCs) are rare benign tumors of the peripheral nerves. Although histopathological characteristics of this unusual lesion have been recognized, in this regard, neuroimaging findings have not been well described previously. We report the first intraconally located NMC affecting the oculomotor nerve, with histopathological and radiological characteristics.

A 10-year-old girl presented with sudden-onset left temporal and retro-orbital pain. Magnetic resonance imaging scans demonstrated a small, capsulated, retro-orbital, intraconal solid lesion that was diagnosed as an atypical dermoid cyst preoperatively. The tumor was resected subtotally. Postoperatively, the patient became pain free, but ipsilateral ptosis and upward eye movement failure developed. Histologically, the lesion consisted of well-differentiated striated muscle fibers intermingled with mature nerve elements consistent with the NMC.

Although intracranial NMCs need histological confirmation for diagnosis, neuroimaging might contribute to the preoperative diagnosis and management strategy of treatment. We report the first intraconal NMC, which should be considered in the differential diagnosis of intraorbital tumors.