Abstract
Hereditary gelsolin amyloidosis (HGA) is an autosomal dominant systemic amyloidosis,
characterized 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 movement 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 muscle. 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.
Keywords
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Article info
Publication history
Published online: February 28, 2022
Accepted:
February 13,
2022
Received:
January 2,
2022
Identification
Copyright
© 2022 Japanese Society of Otorhinolaryngology-Head and Neck Surgery, Inc. Published by Elsevier B.V. All rights reserved.
