Key result
Genetic analysis reveals CPT II deficiency in an infant with severe rhabdomyolysis despite normal acylcarnitine profiles.
Why the study?
Rhabdomyolysis can stem from numerous acquired or hereditary etiologies with potentially grave consequences, making identification and treatment of the underlying cause crucial.
Case Report (n=1)
Genetic analysis is crucial for diagnosing carnitine palmitoyltransferase II deficiency in infants presenting with severe rhabdomyolysis, even when primary metabolic analyses are normal.
May prompt metabolic workup in febrile infants with rhabdomyolysis; leaves open generalizability pending additional cases.
BACKGROUND: Rhabdomyolysis can develop from numerous etiologies, both acquired and hereditary. Consequences of rhabdomyolysis may be grave, therefore identifying and treating the etiology is crucial. CASE PRESENTATION: We herein report the occurrence of severe rhabdomyolysis in a previously healthy 14-month-old infant presenting to the emergency department with fever, hypotonia, and generalized discomfort. Analysis revealed extremely high creatine phosphokinase levels (> 100,000 UI/L). Metabolic myopathy was suspected, however, primary metabolic analyses were normal. Carnitine palmitoyltransferase II deficiency was diagnosed following genetic analysis, identifying a homozygous NM_000098.3, c.338C > T, p.[Ser113Leu] missense variant. Prophylactic measures were established to prevent relapse and genetic counseling provided for the sibship. CONCLUSION: This case highlights the difficulty of diagnosing carnitine palmitoyltransferase II deficiency in an infant and the importance of genetic analysis to establish the diagnosis, despite a normal acylcarnitine profile.
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Perlot et al. (2025) conducted a case report in Severe rhabdomyolysis / Carnitine palmitoyltransferase II deficiency (n=1). Carnitine palmitoyltransferase II (CPT II) deficiency was evaluated on Creatine phosphokinase (CK) levels. A 14-month-old infant with severe rhabdomyolysis and normal acylcarnitine profiles was diagnosed with carnitine palmitoyltransferase II deficiency via genetic analysis.
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