Oculopharyngeal myopathy with inflammation and calcinosis: an unusual phenotype

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.

Hereditary rimmed vacuole myopathy showing interstitial amyloid deposition in muscle tissue

“…Although degenerated muscle fibers with RV contain congophilic amyloid fibrils, the observed amyloid deposits are small in number and are not detected in the interstitial tissue. 5,6 In this report we describe a family that shows slowly progressive myopathy with RV formation and interstitial amyloid deposition in their muscle tissue.…”