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BMJ Case Reports 2018; doi:10.1136/bcr-2017-222863
  • Unusual association of diseases/symptoms
  • CASE REPORT

Rhabdomyolysis in Stuve-Wiedemann syndrome

  1. Louise Hartley1
  1. 1Paediatric Department, University Hospital of Wales, Cardiff, UK
  2. 2Paediatrics Department, Cardiff and Vale University Health Board, Cardiff, UK
  3. 3Department of Child Health, Cardiff University, Cardiff, UK
  1. Correspondence to Dr Louise Hartley, lmhartley{at}gmail.com
  • Accepted 19 January 2018
  • Published 8 February 2018

Summary

A 6-month-old male infant with Stuve-Wiedemann syndrome (SWS) presented with an acute respiratory arrest secondary to a rhinovirus respiratory infection from which he was rapidly resuscitated. He developed an acute kidney injury requiring supportive treatment and on day 3 of his illness was noted to have developed severe rhabdomyolysis (creatine kinase level 132 040 U/L (normal <320 U/L)). He was born from consanguineous parents with homozygous mutations in the leukaemia inhibitory factor receptor. He had skeletal dysplasia with metabolic bone disease and episodes of hyperthermia with lactic acidosis. He also had paroxysmal ventricular tachycardia treated with prophylactic propranolol. This is a case report of a child with SWS who had a febrile illness and epileptic seizures which led to severe rhabdomyolysis outside the context of anaesthesia, and we would like to draw the attention of clinicians to this potential complication.

Footnotes

  • Contributors Original concept was by LH and PSR. All four authors (PSR, MC, CP, LH) contributed to the writing of the manuscript, reviewing, editing and final approval of the manuscript.

  • Competing interests None declared.

  • Patient consent Guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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