Case report
Muscle inflammation, autoimmune Addison's disease and sarcoidosis in a patient with dysferlin deficiency

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Abstract

Idiopathic inflammatory myopathies are a group of acquired, heterogeneous, systemic diseases commonly regarded as autoimmune disorders. Differential diagnosis includes muscular dystrophies, especially the dysferlin-deficiency myopathy. We report a case of a patient diagnosed with polymyositis and with associated autoimmune diseases that finally turned out to be a dysferlin deficiency (limb girdle muscular dystrophy type 2B). A possible link between dysferlin deficiency an autoimmunity is discussed.

Introduction

The idiopathic inflammatory myopathies—polymyositis, dermatomyositis and inclusion body myositis—are a group of acquired, heterogeneous, systemic diseases that are characterized by progressive symmetric muscle weakness, elevated serum levels of muscle enzymes, electromyographic abnormalities and inflammatory infiltrates on muscle [1]. These processes are commonly regarded as autoimmune disorders. Differential diagnosis of the inflammatory myopathies includes muscular dystrophies, specially the dysferlin-deficiency myopathy. Limb girdle muscular dystrophy type 2B (LGMD2B) is an autosomal recessive disease caused by the diminution or absence of dysferlin, a sarcolemmal protein which is thought to play a role in the fusion and repair of cellular membranes. It is known that patients with LGMD2B can present clinically in early adulthood with a significant perivascular and endomysial inflammatory infiltrate on muscle biopsy, leading to a confusing diagnosis of polymyositis [2]. Herein, we report a case of a patient diagnosed with polymyositis and with associated autoimmune diseases (sarcoidosis and Addison's disease) that finally resulted to be a dysferlin deficiency.

Section snippets

Case report

A 34-year-old man with a history of progressive proximal muscle weakness and atrophy was admitted for evaluation. Ten years ago, the patient was diagnosed with Addison's disease. Serum value of ACTH, cortisol and a dynamic test with ACTH stimulation confirmed the diagnosis of primary adrenocortical insufficiency. Circulating adrenal antibodies were highly positive and hormone replacement therapy with cortisone was administered. Six months later, he presented with proximal muscle weakness

Discussion

In contrast to dermatomyositis or sporadic inclusion body myositis which have definite criteria, polymyositis is considered an exclusion diagnosis by some authors, being necessary to exclude other diseases that can mimic it, such as metabolic and dystrophic myopathies. The case reported is a good example of this issue. It has been suggested that patients with dysferlin-deficiency may worsen after receiving steroid treatment [4], as could be, at some extent, the case herein described. Although

Acknowledgements

Supported in part by Grant Fis 040464.

References (6)

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