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Postinfectious Rhabdomyolysis in a 5-Year-Old Boy: When to Look a Little Deeper
Anastasia Garoufi1, George Vartzelis, Lydia Kossiva
1From the *Second Department of Pediatrics, University of Athens Medical School and †Department of Pediatric Neurology, 'P. & A. Kyriakou' Children's Hospital, Athens, Greece.
Insights
Carnitine palmityl transferase II (CPT II) deficiency, a metabolic myopathy, was diagnosed in a child with recurrent rhabdomyolysis. Early identification of CPT II deficiency enabled preventative measures against further muscle damage.
Area of Science:
- Biochemistry
- Genetics
- Pediatric Neurology
Background:
- Recurrent rhabdomyolysis in children can indicate underlying metabolic disorders.
- Postinfectious rhabdomyolysis is typically benign but severe or recurrent cases warrant further investigation.
Unlabelled:
We report on a 5-year-old boy with recurrent severe postinfectious rhabdomyolysis who, after systematic stepwise evaluation, was found to have the adult form of carnitine palmityl transferase II (CPT II) deficiency directly by blood mutation analysis. Timely diagnosis of CPT II deficiency in this case prevented further potentially devastating episodes of rhabdomyolysis by avoiding triggering factors.
Conclusion:
Although most cases of rhabdomyolysis are nonrecurrent and benign, a metabolic myopathy, such as CPT II deficiency, should be suspected in children with episodic muscle necrosis and paroxysmal myoglobinuria.
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