Severe rhabdomyolysis in an infant due to fatty acid oxidation disorder: a case report
Abstract 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 h...
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| Format: | Article |
| Language: | English |
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BMC
2025-06-01
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| Series: | Journal of Medical Case Reports |
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| Online Access: | https://doi.org/10.1186/s13256-025-05350-8 |
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| author | Amelie Krug Pascale Perlot Aurelie Empain Catheline Vilain Anne Monier Kaoutar Tazi Corinne De Laet |
| author_facet | Amelie Krug Pascale Perlot Aurelie Empain Catheline Vilain Anne Monier Kaoutar Tazi Corinne De Laet |
| author_sort | Amelie Krug |
| collection | DOAJ |
| description | Abstract 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. |
| format | Article |
| id | doaj-art-7aea9b4dae3242949d8688b7db913f19 |
| institution | Kabale University |
| issn | 1752-1947 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj-art-7aea9b4dae3242949d8688b7db913f192025-08-20T03:27:10ZengBMCJournal of Medical Case Reports1752-19472025-06-011911610.1186/s13256-025-05350-8Severe rhabdomyolysis in an infant due to fatty acid oxidation disorder: a case reportAmelie Krug0Pascale Perlot1Aurelie Empain2Catheline Vilain3Anne Monier4Kaoutar Tazi5Corinne De Laet6Université Libre de Bruxelles (ULB)Department of Infants, Hôpital Universitaire Des Enfants Reine Fabiola (HUDERF)Metabology Unit, Hôpital Universitaire Des Enfants Reine Fabiola (HUDERF)Department of Genetics, Hôpital Universitaire Des Enfants Reine Fabiola (HUDERF)Department of Neurology, Hôpital Universitaire Des Enfants Reine Fabiola (HUDERF)Université Libre de Bruxelles (ULB)Metabology Unit, Hôpital Universitaire Des Enfants Reine Fabiola (HUDERF)Abstract 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.https://doi.org/10.1186/s13256-025-05350-8Carnitine palmitoyltransferase IICase reportCreatine phosphokinaseMetabolic myopathy |
| spellingShingle | Amelie Krug Pascale Perlot Aurelie Empain Catheline Vilain Anne Monier Kaoutar Tazi Corinne De Laet Severe rhabdomyolysis in an infant due to fatty acid oxidation disorder: a case report Journal of Medical Case Reports Carnitine palmitoyltransferase II Case report Creatine phosphokinase Metabolic myopathy |
| title | Severe rhabdomyolysis in an infant due to fatty acid oxidation disorder: a case report |
| title_full | Severe rhabdomyolysis in an infant due to fatty acid oxidation disorder: a case report |
| title_fullStr | Severe rhabdomyolysis in an infant due to fatty acid oxidation disorder: a case report |
| title_full_unstemmed | Severe rhabdomyolysis in an infant due to fatty acid oxidation disorder: a case report |
| title_short | Severe rhabdomyolysis in an infant due to fatty acid oxidation disorder: a case report |
| title_sort | severe rhabdomyolysis in an infant due to fatty acid oxidation disorder a case report |
| topic | Carnitine palmitoyltransferase II Case report Creatine phosphokinase Metabolic myopathy |
| url | https://doi.org/10.1186/s13256-025-05350-8 |
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