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Rhabdomyolysis, encephalopathy, epilepsy and cardiac arrhythmia
  1. Jonas Toeback1,2,
  2. Mirjam de Pagter3,
  3. Lieza Exalto4,
  4. Klaas Koop5,
  5. Joris Van der Heijden1
  1. 1 Intensive Care, UMC, Utrecht, The Netherlands
  2. 2 intensive Care, MUMC+, Maastricht, The Netherlands
  3. 3 Genetics, UMC, Utrecht, The Netherlands
  4. 4 Neurology, UMC, Utrecht, The Netherlands
  5. 5 Metabolic Disorders, UMC, Utrecht, The Netherlands
  1. Correspondence to Dr Jonas Toeback, Intensive care, UMC Utrecht, Utrecht 3584 CX, The Netherlands; j.toeback{at}

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A 23-year-old man developed general malaise and subacute neurological decline, including dysarthria and generalised weakness. He had mild intellectual disability but had been independent for activities of daily living. When aged 9 years, he had a severe episode of hypoglycaemia with associated presumed provoked seizure. Subsequent investigations for relapsing episodes of muscle weakness and speech problems found no cause. When aged 19, he underwent total thyroidectomy for minimally invasive follicular carcinoma.

On examination, he had generalised muscle weakness. His serum creatine kinase was 23 280 U/L (24–195), with normal inflammatory markers. An ECG showed Brugada pattern type I with prolonged QTc at 516 ms (figure 1). He was given hyperhydration for rhabdomyolysis.

Figure 1

ECG showing Brugada type I pattern characterised by coved type ST-elevation in V1 and inverted T-waves in V1–3, together with diffuse ST abnormalities and prolonged QTc (516 ms).

What is rhabdomyolysis and what are the most likely causes?

What are the main differential diagnoses?

Rhabdomyolysis is a potentially life-threatening syndrome characterised by skeletal muscle destruction, releasing intracellular enzymes into the bloodstream and causing systemic complications.1 Symptoms include muscle pain, muscle weakness and ‘tea-coloured’ urine.1 2 With a non-specific presentation, the diagnosis is based on a serum creatine kinase being five times the upper limit of normal (ie, >1000 U/L).1 2 The differential diagnosis includes acquired and inherited causes (table 1).1 3

View this table:
Table 1

Differential diagnosis of rhabdomyolysis2

We measured his cardiac enzymes to refine the differential diagnosis and to exclude myocardial infarction. His serum troponin-I was 55 ng/L; this remained relatively stable, peaking at 310 ng/L at 2 weeks.

Tests for infective causes (HIV, cytomegalovirus, Epstein-Barr virus, toxoplasmosis, Lyme disease) were negative, as were serum antinuclear antibodies, antineutrophil cytoplasmic antibodies and paraneoplastic antibodies. We requested tests for myositis blot including antisignal recognition particle and anti-3-hydroxy-3-methyl-glutaryl-coenzyme A reductase antibodies (anti-HMG-CoA).

MR scans of whole-body muscle showed muscle oedema in the shoulders, pelvic girdle, thighs and calves, but …

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  • Contributors All authors contributed.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed by Jon Walters, Swansea, UK.