Postinfectious Rhabdomyolysis in a 5-Year-Old Boy: When to Look a Little Deeper.

Abstract

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.

• Authors: Anastasia Garoufi, George Vartzelis, Lydia Kossiva, Eustathia Katsarou, Alexandra Soldatou
• Journal: Pediatric emergency care (Pediatr Emerg Care) Vol. 31 Issue 12 Pg. 851-2 (Dec 2015) ISSN: 1535-1815 [Electronic] United States
• PMID: 25513977 (Publication Type: Case Reports, Journal Article)

Chemical References

• Carnitine O-Palmitoyltransferase

Topics

• Carnitine O-Palmitoyltransferase (deficiency, genetics)
• Child, Preschool
• DNA Mutational Analysis
• Humans
• Lipid Metabolism, Inborn Errors (diagnosis)
• Male
• Mitochondrial Diseases (diagnosis)
• Muscular Diseases (diagnosis)
• Mutation
• Rhabdomyolysis (diagnosis, microbiology)