Clinical and electrophysiological findings of facial palsy in a case of hereditary gelsolin amyloidosis

Hereditary gelsolin amyloidosis (HGA) is an autosomal dominant systemic amyloidosis, charac-terized by cranial and sensory peripheral neuropathy, corneal lattice dystrophy, and cutis laxa. We report a case of HGA presenting with bilateral facial palsy. A 70-year-old Japanese man presented with slowly progressive bilateral facial palsy and facial twitching, which had started in his 40s. His mother also had the same symptoms due to an unknown cause but rest of the family did not. He showed incomplete facial palsy with no frontal muscle movement and partial move-ment of the orbicularis oris and orbicularis oculi muscles. The patient showed no synkinesis. Electroneurography revealed symmetric low compound motor action potential amplitude of the orbicularis oris muscle, and a nerve excitability test showed a symmetric increase in the response threshold. Despite the partial voluntary movement of the orbicularis oculi muscle, bilateral blink reflexes were absent. He also showed facial spasms after contraction of the orbicularis oris mus-cle. Genetic testing revealed a heterozygous c.640G > A mutation (p. Asp214Asn); therefore, the patient was diagnosed with HGA. HGA related facial palsy showed moderate bilateral, upper blanch-dominant axonal degeneration of the facial nerve without reinnervation, and trigeminal nerve neuropathy.(c) 2022 Japanese Society of Otorhinolaryngology-Head and Neck Surgery, Inc. Published by Elsevier B.V. All rights reserved.

Automated summary

This case report describes a 70-year-old Japanese man with hereditary gelsolin amyloidosis (HGA) presenting with bilateral facial palsy. Genetic testing confirmed the diagnosis of HGA. Electrophysiological examinations revealed abnormal facial muscle activity and moderate bilateral upper facial nerve damage.