A misdiagnosed myasthenia gravis with anti-muscle-specific tyrosine kinase antibodies with possible childhood onset

Vojnosanit Pregl. 2015 Jul;72(7):639-41. doi: 10.2298/vsp131111039n.


Introduction: Childhood onset myasthenia gravis associated with anti-muscle-specific tyrosine kinase antibodies is very rare and atypical in presentation.

Case report: As a baby, the pre- sented patient was choking and sleeping with open eyes. She had weak cry and breathing difficulties. In childhood, there were fre- quent falls and fluctuating swallowing difficulties. At the age of 19 she was misdiagnosed with Miller Fisher syndrome due to the presence of diplopia, ataxia and hyporeflexia with spontaneous recovery. Repetitive nerve stimulation test was normal. Four years later, after several relapses, there was significant decrement on facial muscles. Neostigmine test was negative, provoking muscle fasciculations. Serum anti-muscle-specific tyrosine kinase antibodies were positive. With cyclosporine therapy she achieved the minimal manifestations status.

Conclusion: The presented case confirms that childhood onset myasthenia gravis associated with anti-muscle-specific tyrosine kinase antibodies is often with atypical presentation and spontaneous remissions, so it could be easily misdiagnosed.

Publication types

  • Case Reports

MeSH terms

  • Autoantibodies / blood*
  • Biomarkers / blood
  • Cyclosporine / therapeutic use
  • Diagnostic Errors*
  • Female
  • Humans
  • Immunosuppressive Agents / therapeutic use
  • Miller Fisher Syndrome / diagnosis*
  • Muscle, Skeletal / enzymology
  • Muscle, Skeletal / immunology*
  • Myasthenia Gravis / blood
  • Myasthenia Gravis / diagnosis*
  • Myasthenia Gravis / drug therapy
  • Myasthenia Gravis / immunology
  • Predictive Value of Tests
  • Receptor Protein-Tyrosine Kinases / immunology*
  • Receptors, Cholinergic / immunology*
  • Recurrence
  • Treatment Outcome
  • Young Adult


  • Autoantibodies
  • Biomarkers
  • Immunosuppressive Agents
  • Receptors, Cholinergic
  • myasthenia gravis anti-skeletal muscle antibody
  • Cyclosporine
  • MUSK protein, human
  • Receptor Protein-Tyrosine Kinases