200 Section - Facial Palsy and Tinnitus as Initial Clues to Pediatric Neurofibromatosis Type 2

Neurofibromatosis type 2 (NF2) presenting as progressive facial neuropathy with auditory symptoms in a child.

Case Description:

A 12-year-old girl presented with progressive left facial weakness and tinnitus. She was initially evaluated in the pediatric clinic and later referred to the rehabilitation department for persistent symptoms. Electrodiagnostic studies revealed incomplete facial neuropathy with active denervation. Ultrasonography identified a 2.45 × 2.07 × 2.1 cm hypoechoic lesion without vascularity in the left subauricular region. Magnetic resonance imaging demonstrated rim enhancement of this lesion, as well as multiple intracranial neurogenic tumors. The patient subsequently developed intractable facial pain and hearing loss, leading to surgical excision of the parotid lesion under intraoperative neurophysiologic monitoring. Pathological examination confirmed schwannoma, and whole-genome sequencing revealed a pathogenic NF2 gene variant (c.586C >T). Follow-up electrodiagnostic studies showed reinnervation potentials corresponding to gradual motor recovery.

Discussions:

This case illustrates how persistent or atypical facial palsy in children may signal an underlying neurogenetic disorder rather than idiopathic neuropathy. Recognition of "red flags"—including tinnitus, hearing loss, and incomplete recovery—should prompt a comprehensive evaluation. Early use of electrodiagnostic studies and multimodal imaging can aid lesion localization, establish etiology, and guide clinical management. The rehabilitation team played a key role in confirming neural recovery and monitoring progress through serial electrodiagnostic testing.

Conclusions:

Persistent or atypical pediatric facial palsy warrants further investigation for NF2. Multidisciplinary care, including rehabilitation and genetic follow-up, is essential for early tumor detection and optimization of neurological outcomes.