title: Morvan's syndrome and myasthenia gravis related to familial Mediterranean fever gene mutations.
abstract: BACKGROUND
  We present the first case of Morvan's syndrome (MoS) and myasthenia gravis (MG) related to familial Mediterranean fever (FMF) gene mutations.
  
  
  METHODS
  A 40-year-old woman with a 1-year history of bilateral ptosis and limb muscle weakness presented to our hospital. She also had memory impairment, insomnia, hyperhidrosis, and muscle twitches. Electromyography confirmed widespread myokymia, and there was evidence of temporal region dysfunction on electroencephalography. Anti-voltage-gated potassium channel complex antibodies and anti-acetylcholine receptor antibodies were both positive. Edrophonium administration was effective for bilateral ptosis and muscle weakness. She and her family experienced self-limiting febrile attacks with arthralgia, which led us to suspect FMF. Genetic analyses revealed compound heterozygous mutations in exon 2 of the MEFV gene (L110P/E148Q). From these findings, a diagnosis of MoS and MG complicated with MEFV gene mutations was made. Intravenous high-dose corticosteroids, plasma exchange, and intravenous immunoglobulin resulted in only transient, limited improvement, and frequent relapses, especially in the myasthenic symptoms. Interleukin (IL)-6, IL-1β, and tumor necrosis factor-α were markedly elevated in the serum, which was considered to be derived from the MEFV mutations and responsible for the resistance to immunotherapy.
  
  
  CONCLUSIONS
  The present case illustrates a possible link between auto-inflammation and auto-antibody-mediated neurological diseases.
authors.affiliation: Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
authors.forename: Junpei
authors.initials: J
authors.lastname: Koge
authors.affiliation: Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
authors.forename: Shintaro
authors.initials: S
authors.lastname: Hayashi
authors.affiliation: Department of Neurological Therapeutics, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Murai
authors.affiliation: Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
authors.forename: Jun
authors.initials: J
authors.lastname: Yokoyama
authors.affiliation: Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
authors.forename: Yuri
authors.initials: Y
authors.lastname: Mizuno
authors.affiliation: Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
authors.forename: Taira
authors.initials: T
authors.lastname: Uehara
authors.affiliation: Department of Medicine and Biosystemic Science, Kyushu University Faculty of Medicine, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
authors.forename: Naoyasu
authors.initials: N
authors.lastname: Ueda
authors.affiliation: Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima, 890-8520, Japan.
authors.forename: Osamu
authors.initials: O
authors.lastname: Watanabe
authors.affiliation: Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima, 890-8520, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Takashima
authors.affiliation: Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan. kira@neuro.med.kyushu-u.ac.jp.
authors.forename: Jun-ichi
authors.initials: J
authors.lastname: Kira
mesh_terms: D000328:Adult; D001323:Autoantibodies / Q000235:genetics / Q000276:immunology; D018450:Disease Progression; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005260:Female; D006801:Humans; D018908:Muscle Weakness / Q000209:etiology; D009154:Mutation / Q000235:genetics; D009157:Myasthenia Gravis / Q000150:complications / Q000235:genetics*; D020385:Myokymia / Q000150:complications / Q000235:genetics*; D009460:Neurologic Examination; D024642:Potassium Channels, Voltage-Gated / Q000235:genetics / Q000276:immunology; D000071198:Pyrin / Q000235:genetics*
chemical_list: D001323:Autoantibodies; C000604192:MEFV protein, human; D024642:Potassium Channels, Voltage-Gated; D000071198:Pyrin
keywords: Anti-voltage-gated potassium channel complex antibodies; Familial Mediterranean fever; Morvan’s syndrome; Myasthenia gravis; Myokymia