TY - JOUR
T1 - Morvan's syndrome and myasthenia gravis related to familial Mediterranean fever gene mutations
AU - Koge, Junpei
AU - Hayashi, Shintaro
AU - Murai, Hiroyuki
AU - Yokoyama, Jun
AU - Mizuno, Yuri
AU - Uehara, Taira
AU - Ueda, Naoyasu
AU - Watanabe, Osamu
AU - Takashima, Hiroshi
AU - Kira, Jun Ichi
N1 - Publisher Copyright:
© 2016 Koge et al.
PY - 2016
Y1 - 2016
N2 - Background: We present the first case of Morvan's syndrome (MoS) and myasthenia gravis (MG) related to familial Mediterranean fever (FMF) gene mutations. Case presentation: 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-a were markedly elevated in the serum, which was considered to be derived from the MEFV mutations and responsible for the resistance to immunotherapy. Conclusion: The present case illustrates a possible link between auto-inflammation and auto-antibody-mediated neurological diseases.
AB - Background: We present the first case of Morvan's syndrome (MoS) and myasthenia gravis (MG) related to familial Mediterranean fever (FMF) gene mutations. Case presentation: 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-a were markedly elevated in the serum, which was considered to be derived from the MEFV mutations and responsible for the resistance to immunotherapy. Conclusion: The present case illustrates a possible link between auto-inflammation and auto-antibody-mediated neurological diseases.
KW - Anti-voltage-gated potassium channel complex antibodies
KW - Familial Mediterranean fever
KW - Morvan's syndrome
KW - Myasthenia gravis
KW - Myokymia
UR - http://www.scopus.com/inward/record.url?scp=85007500558&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85007500558&partnerID=8YFLogxK
U2 - 10.1186/s12974-016-0533-7
DO - 10.1186/s12974-016-0533-7
M3 - Article
C2 - 27026266
AN - SCOPUS:85007500558
SN - 1742-2094
VL - 13
JO - Journal of Neuroinflammation
JF - Journal of Neuroinflammation
IS - 1
M1 - 68
ER -