INTRODUCTION To the best of our knowledge, we describe for the first time a patient in whom an unusual metabolic myopathy was identified after failure to respond to curative therapy for a systemic vasculitis, polyarteritis nodosa. We hope this report will heighten awareness of common metabolic myopathies that may present later in life. It also speculates on the potential relationship between me...

BACKGROUND Muscle injury may be caused by any one of a number of factors, including trauma, drugs, hyperthermia and metabolic derangement. Symptoms and signs are often non-specific, and myopathy may be easily overlooked. CASE An elderly woman was referred to hospital for investigation of rapidly declining mobility in the setting of anorexia and vomiting due to benign oesophageal stricture. Th...

by Edward C. Smith, MD, and Dwight D. Koeberl, MD, PhD The rheumatologist is frequently called upon to evaluate patients with complaints of myalgia, muscle cramping, and fatigue. Because these symptoms may be nonspecific and lack any clear temporal or anatomic pattern, their workup may entail costly and uninformative tests. When similar symptoms emerge during or following physical exertion, a m...

A 19-year old female patient presented with a two-year history of muscle pain and weakness before she was admitted to an acute medical ward with rhabdomyolysis (creatine kinase of 83,344 IU/L) and normal renal function tests. Following admission she was under the care of the rheumatology and neurology teams, which investigated her thoroughly. As part of the belt-and-braces approach, both teams ...

OBJECTIVE To review the metabolic encephalopathies and neuromuscular abnormalities commonly found in the critically ill patient in a two-part presentation. DATA SOURCES A review of articles reported from 1980 to 2002 and identified through a MEDLINE search on metabolic encephalopathy, polyneuropathy and myopathy in critical illness. SUMMARY OF REVIEW Severe weaknes in the critically ill pat...

RBCK1 deficiency is a rare congenital autoinflammatory disease that causes inflammatory disruption on the molecular level. This has three major clinical manifestations: increased sensitivity to bacterial infections, autoinflammation syndrome, and accumulation of amylopectin in skeletal muscle. The amylopectinosis myopathy cardiomyopathy. pathogenesis poorly investigated may include unnoticed re...

Abstract Background/Aims Myopathies due to inborn errors of metabolism can be difficult differentiate from inflammatory myopathies. Careful history, examination and laboratory tests are required establish the diagnosis. We present a case Riboflavin Transport Deficiency (Brown-Vialetto-Van Laere syndrome) masquerading as an myopathy. Methods A 37-year-old lady presented with severe proximal musc...