Limb-girdle myasthenia gravis in a 10-year-old girl: a case report

J Child Neurol. 2011 Nov;26(11):1434-7. doi: 10.1177/0883073811410059. Epub 2011 Jul 5.

Abstract

A 10-year-old girl presented with progressive proximal limb muscle weakness without facial, ocular, or bulbar muscle involvement. There was no fatigability or diurnal fluctuation in symptoms. Her weakness worsened with febrile illnesses and recovered with accruing disabilities over a few weeks. Serum creatine kinase levels and muscle biopsy were normal. A significant decrement on repetitive nerve stimulation test and positive response to therapeutic neostigmine challenge test confirmed the diagnosis of limb-girdle myasthenia. She responded well to corticosteroids and thymectomy, demonstrating a likely autoimmune etiology. This case highlights the long-term fluctuations in a case of myasthenia gravis and the need for a high index of suspicion for myasthenia in children presenting with unexplained muscle weakness, even in the absence of typical features such as fatigability, diurnal fluctuation, and oculobulbar weakness.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Cholinesterase Inhibitors / therapeutic use
  • Creatine Kinase / blood
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiopathology
  • Myasthenia Gravis* / blood
  • Myasthenia Gravis* / diagnosis
  • Myasthenia Gravis* / physiopathology
  • Neostigmine / therapeutic use
  • Parathyroid Hormone / blood
  • Thyroid Gland / pathology

Substances

  • Cholinesterase Inhibitors
  • Parathyroid Hormone
  • Neostigmine
  • Creatine Kinase