A case of sudden unexpected infant death involving a homozygotic twin with the thermolabile CPT2 variant, accompanied by rotavirus infection and treatment with an antibiotic containing pivalic acid
A case of sudden unexpected infant death involving a homozygotic twin with the thermolabile CPT2 variant, accompanied by rotavirus infection and treatment with an antibiotic containing pivalic acid
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DOI：
10.1016/j.legalmed.2016.07.005
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发表时间：
2016-09-01
期刊：
影响因子：
1.5
通讯作者：
Ishige, Takashi
中科院分区：
文献类型：
--
作者：
Takahashi, Yoichiro;Sano, Rie;Ishige, Takashi
我们调查了一起涉及一名 22 个月大的男性纯合双胞胎婴儿的意外猝死案例。双胞胎都患有肠胃炎后，其中一人被发现死在床上，但他的兄弟幸存下来，此后一直健康。值得注意的是，只有死者接受过含有新戊酸的抗生素治疗，这种抗生素有时可能会导致低肉碱血症。尸检和法医学尸检显示严重的肝脏脂肪变性，随后的基因分析显示，双胞胎患有肉毒碱棕榈酰转移酶 2 (CPT2) 的不耐热变体。基于这些事实，我们得出结论，该婴儿的死亡原因是含有新戊酸的抗生素和病毒感染加速了脂肪酸氧化缺乏，该婴儿携带不耐热的 CPT2 遗传变异。虽然每个因素单独都不是致命的，但它们的结合似乎会导致婴儿突然意外死亡。 (C) 2016 Elsevier Ireland Ltd. 保留所有权利。
We investigated a case of sudden unexpected death involving a 22-month-old male homozygotic twin infant. After both of the twins had suffered from gastroenteritis, one was found dead in his bed, but his brother survived and has since been healthy. Notably, only the deceased had been treated with an antibiotic containing pivalic acid, which may sometimes cause hypocarnitinemia. Postmortem computed tomography and medicolegal autopsy demonstrated severe liver steatosis, and subsequent genetic analysis revealed that the twin had the thermolabile variant of carnitine palmitoyl transferase 2 (CPT2). On the basis of these facts, we concluded that the cause of death had been fatty acid oxidation deficiency accelerated by an antibiotic containing pivalic acid and virus infection in this infant harboring the thermolabile genetic variant of CPT2. Although each factor alone was not fatal, their combination appeared to have resulted in sudden unexpected infant death. (C) 2016 Elsevier Ireland Ltd. All rights reserved.