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

IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL

Journal of Medical Case Reports Pub Date : 2025-06-22 DOI:10.1186/s13256-025-05350-8

Amelie Krug, Pascale Perlot, Aurelie Empain, Catheline Vilain, Anne Monier, Kaoutar Tazi, Corinne De Laet

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引用次数: 0

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.

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严重横纹肌溶解在婴儿由于脂肪酸氧化障碍：1例报告。

背景：横纹肌溶解可由多种病因引起，包括获得性和遗传性。横纹肌溶解的后果可能是严重的，因此确定和治疗病因是至关重要的。病例介绍：我们在此报告一个先前健康的14个月婴儿出现严重横纹肌溶解，并以发烧、低张力和全身不适就诊于急诊科。分析结果显示，肌酸磷酸激酶水平极高（约10万UI/L）。怀疑为代谢性肌病，但初步代谢分析正常。经基因分析，发现纯合子NM_000098.3, c.338C > T, p.[Ser113Leu]错义变异。制定了预防措施以防止复发，并为兄弟姐妹提供遗传咨询。结论：本病例强调了诊断婴儿肉碱棕榈酰基转移酶II缺乏症的困难和基因分析对建立诊断的重要性，尽管正常的酰基肉碱谱。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Medical Case Reports Medicine-Medicine (all)

CiteScore

1.50

自引率

0.00%

发文量

436

期刊介绍： JMCR is an open access, peer-reviewed online journal that will consider any original case report that expands the field of general medical knowledge. Reports should show one of the following: 1. Unreported or unusual side effects or adverse interactions involving medications 2. Unexpected or unusual presentations of a disease 3. New associations or variations in disease processes 4. Presentations, diagnoses and/or management of new and emerging diseases 5. An unexpected association between diseases or symptoms 6. An unexpected event in the course of observing or treating a patient 7. Findings that shed new light on the possible pathogenesis of a disease or an adverse effect