| Title | Rhabdomyolysis in Stuve-Wiedemann syndrome. | ||
| Author | Ramdeny, Pemantah Sandheeah; Powell, Colin; Chakraborty, Mallinath; Hartley, Louise | ||
| Journal | BMJ Case Rep | Publication Year/Month | 2018-Feb |
| PMID | 29437806 | PMCID | PMC5836637 |
| Affiliation + expend | 1.Paediatric Department, University Hospital of Wales, Cardiff, UK. | ||
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.