Myositis associated with localized lipodystrophy: an unrecognized condition?
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EUROPEAN JOURNAL OF MEDICAL RESEARCH
Eur J Med Res (2009) 14: 228-230
May 14, 2009 © I. Holzapfel Publishers 2009
MYOSITIS ASSOCIATED WITH LOCALIZED LIPODYSTROPHY: AN UNRECOGNIZED CONDITION? H.-J. Gdynia 1, P. Weydt 1, A. Ernst 2, S. Klein 2, A.-D. Sperfeld 1, A. Riecker 1 1 Department
of Neurology, 2 Department of Radiology, University of Ulm, Germany
Abstract Lipodystrophies represent a heterogeneous group of diseases characterized by altered body fat repartition and often metabolic alterations. Here we illustrate a 20 year old male with myositis in association with localized lipodystrophy. Immunohistochemical stainings revealed a regular pattern of dystrophin, dysferlin, sarcoglycans, and theletonin. Furtermore, there was no evidence of Lamin A/C deficiency. A nearly identical clinical and histological picture has been described in three patients up to now. Although it is difficult to speculate on a causative pathophysiological mechanism at this time, it is possible that this association represents an unrecognized condition. Key words: Lipodystrophy; lipoatrophy; myositis; myopathy; muscle biopsy
INTRODUCTION
Lipoatrophy, also termed lipodystrophy, is a rare condition presenting as a loss of subcutaneous fat. The disorder can occur in generalized, partial, or localized form. Total lipodystrophy can be congenital or acquired and is usually associated with other clinical features such as hyperpigmentation, acanthosis nigricans, diabetes mellitus, glomerulonephritis, and hepatopathy [1]. For further information about inherited lipodystrophy syndromes visit “Online Mendelian Inheritance in Men” at www.ncbi.nlm.nih.gov/Omim. An association with muscle fibre degeneration [2] and dermatomyositis [3, 4] has already been described in the medical literature.
CASE REPORT
A 20 year old male patient presented with a slowly progressive atrophy of his right buttocks region. Personal history revealed a CK elevation of unknown origin, family history was non-contributory. Physical examination demonstrated a focal atrophy of his proximal right lower extremity, distinctly pronounced in the gluteal region (Fig. 1a). Muscle strength was normal in the whole system; deep-tendon reflexes
were unremarkable. Routine laboratory examinations revealed no abnormalities, the creatine-kinase level was normal (88 U/l; Norm < 110 U/l). Laboratory screening for vasculitis was unremarkable. Muscle magnetic resonance imaging revealed a severe subcutaneous and intramuscular lipoatrophy in the clinically affected region (Fig. 1b). Nerve conduction studies were unremarkable. Electromyography showed slight myopathic changes in the right gluteus medius and maximus muscle (s), but a normal pattern in the clinically unaffected musculature (left vastus medialis, right tibialis anterior); there was no evidence for a L5/S1 radiculopathy. A muscle biopsy from the electromyographically affected right gluteus maximus and the unaffected left vastus lateralis muscle was performed. Routine histological stainings included H&E, modified gomori-trichrome, ac
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