Oculopharyngeal myopathy with inflammation and calcinosis: an unusual phenotype

J Neurol Neurosurg Psychiatry. 2008 Jun;79(6):731-3. doi: 10.1136/jnnp.2007.131557. Epub 2008 Feb 12.

Abstract

The case is reported of a patient with progressive proximal and distal weakness, dysphagia, respiratory weakness, calcifications, ptosis and ophthalmoparesis with inflammation, rimmed vacuoles and positive amyloid and ubiquitin on muscle biopsy. The histopathological features fit best with inclusion body myositis, but ophthalmoparesis and ptosis have not previously been described. The clinical phenotype fits best with hereditary inclusion body myopathy or distal-oculopharyngeal muscular dystrophy, but the degree of inflammation seen is unusual. None of these are associated with calcinosis.

Publication types

  • Case Reports

MeSH terms

  • Amyloidosis / diagnosis
  • Amyloidosis / pathology
  • Biopsy
  • Calcinosis / diagnosis*
  • Calcinosis / pathology
  • Creatine Kinase / blood
  • Diagnosis, Differential
  • Female
  • Follow-Up Studies
  • Humans
  • Middle Aged
  • Muscle, Skeletal / pathology
  • Muscular Atrophy / diagnosis
  • Muscular Atrophy / pathology
  • Muscular Dystrophy, Oculopharyngeal / diagnosis*
  • Muscular Dystrophy, Oculopharyngeal / pathology
  • Myositis, Inclusion Body / diagnosis*
  • Myositis, Inclusion Body / pathology
  • Neurologic Examination
  • Phenotype
  • Ubiquitin / analysis
  • Vacuoles / pathology

Substances

  • Ubiquitin
  • Creatine Kinase