Neuromuscular hyperexcitability associated with acetylcholine receptor antibodies in a child

J Child Neurol. 2009 Jan;24(1):90-2. doi: 10.1177/0883073808320755. Epub 2008 Oct 20.

Abstract

This report describes the clinical and electrophysiological features of an 8-year-old boy with autoimmune neuromuscular hyperexcitability. He presented with features of lower extremity pain, stiffness, and rippling muscles. The diagnosis was made by electromyography and supported by the presence of an antibody directed against nicotinic acetylcholine receptors. His symptoms responded to immunomodulatory treatment with intravenous immunoglobulin. Response to immunomodulatory therapy has not previously been described in the pediatric population with autoimmune neuromuscular hyperexcitability. This case highlights that this is a treatable condition.

Publication types

  • Case Reports

MeSH terms

  • Action Potentials / physiology
  • Antibodies / blood*
  • Child
  • Electromyography / methods
  • Humans
  • Immunoglobulins / therapeutic use
  • Male
  • Nerve Tissue Proteins / immunology
  • Neuromuscular Diseases / diagnosis
  • Neuromuscular Diseases / drug therapy
  • Neuromuscular Diseases / immunology*
  • Neuromuscular Diseases / physiopathology*
  • Receptors, Cholinergic / immunology*

Substances

  • Antibodies
  • Immunoglobulins
  • Nerve Tissue Proteins
  • Receptors, Cholinergic