Severe rhabdomyolysis in an infant due to fatty acid oxidation disorder: a case report

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Amelie Krug1, Pascale Perlot2, Aurelie Empain3

  • 1Université Libre de Bruxelles (ULB), Rte de Lennik 808, Anderlecht, 1070, Brussels, Belgium. ameliemskrug@gmail.com.

Journal of Medical Case Reports
|June 22, 2025
PubMed

Insights

Carnitine palmitoyltransferase II deficiency, a rare metabolic myopathy, can cause severe rhabdomyolysis in infants. Genetic analysis is crucial for diagnosis, even with normal initial metabolic tests.

Area of Science:

  • Pediatrics
  • Genetics
  • Biochemistry

Background:

  • Rhabdomyolysis, a serious condition with diverse causes, necessitates prompt etiological identification and treatment.
  • Early diagnosis and intervention are critical to mitigate severe consequences of rhabdomyolysis.

Purpose of the Study:

  • To report a case of severe rhabdomyolysis in an infant.
  • To highlight the diagnostic challenges of carnitine palmitoyltransferase II deficiency in early childhood.
  • To emphasize the role of genetic analysis in diagnosing metabolic myopathies.

Main Methods:

  • Case report of a 14-month-old infant presenting with fever, hypotonia, and elevated creatine phosphokinase.
  • Initial metabolic investigations were performed, revealing normal acylcarnitine profiles.
  • Genetic analysis identified a homozygous missense variant in the CPT2 gene (NM_000098.3, c.338C>T, p.[Ser113Leu]).

Main Results:

  • The infant presented with severe rhabdomyolysis and extremely high creatine phosphokinase levels (>100,000 UI/L).
  • Despite normal primary metabolic analyses, genetic testing confirmed Carnitine palmitoyltransferase II deficiency.
  • Prophylactic strategies and genetic counseling were implemented for the patient and family.

Conclusions:

  • Carnitine palmitoyltransferase II deficiency can manifest as severe rhabdomyolysis in infants.
  • Diagnosis can be challenging due to normal initial metabolic screening.
  • Genetic analysis is essential for definitive diagnosis of CPT2 deficiency in infants.
Abstract

Keywords:
Carnitine palmitoyltransferase IICase reportCreatine phosphokinaseMetabolic myopathy

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