Open AccessA rare case of peripheral nerve hyperexcitability in childhood: Isaacs syndrome
Author(s) -
Seda Kanmaz,
Muhittin Özcan,
Erdem Şimşek,
Hepsen Mine Serin,
İbrahim Aydoğdu,
Sarenur Gökben,
Hasan Tekgül
Publication year - 2020
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/jpn.jpn_128_19
Subject(s) - neuromyotonia , medicine , channelopathy , myokymia , electromyography , differential diagnosis , etiology , carbamazepine , peripheral , pathology , epilepsy , physical medicine and rehabilitation , antibody , immunology , psychiatry
Isaacs syndrome is rare disorder with peripheral nerve hyperexcitability syndromes with acquired neuromyotonia in childhood. We present a 13-year-old girl with muscle stiffness and neuromyotonia diagnosed Isaac syndrome with spontaneous discharge potentials on motor unit in electromyography and the diagnosis supported by the presence of antinuclear antibodies. A successful treatment was obtained using low-dose carbamazepine. Cause of Isaacs syndrome is unknown, generally thought to be an autoimmune etiology with voltage-gated potassium channelopathy; it sometimes occurs as a paraneoplastic syndrome. Early use of electromyography has critical role in the differential diagnosis with certain muscle disorders and peripheral nerve hyperexcitability syndromes.