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.
To read this article in full you will need to make a payment
Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:Subscribe to Auris Nasus Larynx
Already a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
- Management of bilateral facial palsy.Otolaryngol Clin North Am. 2018; 51: 1213-1226https://doi.org/10.1016/j.otc.2018.07.014
- Bilateral facial paralysis: a 13-year experience.Plast Reconstr Surg. 2016; 138: 879-887https://doi.org/10.1097/PRS.0000000000002599
- Familial amyloid polyneuropathy.Lancet Neurol. 2011; 10: 1086-1097https://doi.org/10.1016/S1474-4422(11)70246-0
- Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide.Amyloid. 1998; 5: 55-66https://doi.org/10.3109/13506129809007291
- Familial amyloid polyneuropathy (Finnish type) in a Japanese family: clinical features and immunocytochemical studies.J Neurol Sci. 2007; 252: 4-8https://doi.org/10.1016/j.jns.2006.09.022
- Nerve excitability testing: technical pitfalls and threshold norms using absolute values.Laryngoscope. 1993; 103: 379-385https://doi.org/10.1002/lary.5541030403
- Natural course of Finnish gelsolin amyloidosis.Ann Med. 2015; 47: 506-511https://doi.org/10.3109/07853890.2015.1075063
- Progressive cranial nerve involvement and grading of facial paralysis in gelsolin amyloidosis.Muscle Nerve. 2016; 53: 762-769https://doi.org/10.1002/mus.24922
- Gelsolin-related familial amyloidosis, finnish type, in a Portuguese family: clinical and neurophysiological studies.Muscle Nerve. 2003; 28: 715-721https://doi.org/10.1002/mus.10474
- Neuromuscular pathology in hereditary gelsolin amyloidosis.J Neuropathol Exp Neurol. 2002; 61: 565-571https://doi.org/10.1093/jnen/61.6.565
- Facial nerve paralysis associated with temporal bone masses.Auris Nasus Larynx. 2017; 44: 548-553https://doi.org/10.1016/j.anl.2016.12.006
- Movement disorders in patients with peripheral facial palsy.Mov Disord. 2003; 18: 1424-1435https://doi.org/10.1002/mds.10605
- Gelsolin familial amyloidosis peripheral neuropathy in Canada: a case report.Can J Neurol Sci. 2015; 42: 353-355https://doi.org/10.1017/cjn.2015.56
- Diagnosis of primary hemifacial spasm.Neurochirurgie. 2018; 64: 82-86https://doi.org/10.1016/j.neuchi.2017.12.003
- Gelsolin and diseases.Subcell Biochem. 2007; 45: 55-69https://doi.org/10.1007/978-1-4020-6191-2_3
Published online: February 28, 2022
Accepted: February 13, 2022
Received: January 2, 2022
© 2022 Japanese Society of Otorhinolaryngology-Head and Neck Surgery, Inc. Published by Elsevier B.V. All rights reserved.