A rare case of peripheral nerve hyperexcitability in childhood: Isaacs syndrome

KANMAZ S. , Ozcan M., ŞİMŞEK E. , SERİN H. M. , AYDOĞDU İ. , GÖKBEN S. , ...More

JOURNAL OF PEDIATRIC NEUROSCIENCES, vol.15, no.2, pp.153-156, 2020 (Journal Indexed in ESCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 15 Issue: 2
  • Publication Date: 2020
  • Doi Number: 10.4103/jpn.jpn_128_19
  • Page Numbers: pp.153-156


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.