Abstract

A 44-year old male estate labourer presented with severe muscle pains and passing dark urine of two days duration. Six hours prior to the onset of symptoms, he sustained a fall from height of about six feet. The muscle pains progressively worsened over the next two days and he was almost immobilised due to severe generalised muscle pain by the second day of the illness. On the same day, he noticed that his urine was dark brown in colour and he was passing smaller quantities of urine than before. He gave a past history of similar episode following a febrile illness with acute kidney injury two years ago. He recovered after six cycles of haemodialysis. He had two other similar episodes during the last two years but these were milder than the first episode. One of them was precipitated by strenuous physical activity and the other was subsequent to an alcohol binge.

Highlights

  • McArdle syndrome is a metabolic myopathy causing exercise induced rhabdomyolysis due to deficiency of muscle phosphorylase

  • We report a case of McArdle syndrome presenting with recurrent rhabdomyolysis

  • McArdle syndrome is caused by muscle phosphorylase deficiency [1]

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Summary

Introduction

McArdle syndrome (glycogen storage disease type V) is a metabolic myopathy causing exercise induced rhabdomyolysis due to deficiency of muscle phosphorylase. It is an autosomal recessive disorder, presenting during childhood with symptoms related to musculoskeletal system. We report a case of McArdle syndrome presenting with recurrent rhabdomyolysis. A 44-year old male estate labourer presented with severe muscle pains and passing dark urine of two days duration.

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