Krug Amelie, Perlot Pascale, Empain Aurelie, Vilain Catheline, Monier Anne, Tazi Kaoutar, De Laet Corinne
Université Libre de Bruxelles (ULB), Rte de Lennik 808, Anderlecht, 1070, Brussels, Belgium.
Department of Infants, Hôpital Universitaire Des Enfants Reine Fabiola (HUDERF), Avenue Jean Joseph Crocq 15, 1020, Brussels, Belgium.
J Med Case Rep. 2025 Jun 22;19(1):291. doi: 10.1186/s13256-025-05350-8.
Rhabdomyolysis can develop from numerous etiologies, both acquired and hereditary. Consequences of rhabdomyolysis may be grave, therefore identifying and treating the etiology is crucial.
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.
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.
横纹肌溶解症可由多种病因引起，包括后天性和遗传性。横纹肌溶解症的后果可能很严重，因此识别和治疗病因至关重要。
我们在此报告一名先前健康的14个月大婴儿出现严重横纹肌溶解症，该婴儿因发热、肌张力减退和全身不适就诊于急诊科。分析显示肌酸磷酸激酶水平极高（>100,000 UI/L）。怀疑为代谢性肌病，然而，初步代谢分析结果正常。基因分析后诊断为肉碱棕榈酰转移酶II缺乏症，发现纯合的NM_000098.3，c.338C>T，p.[Ser113Leu]错义变异。制定了预防复发的措施，并为其亲属提供了遗传咨询。
该病例突出了婴儿期诊断肉碱棕榈酰转移酶II缺乏症的困难，以及尽管酰基肉碱谱正常，但基因分析对于确诊的重要性。
