未确诊的胆道闭锁导致婴儿意外死亡:一例致命的疏忽。

F. Ventura, R. Barranco, F. Buffelli, E. Fulcheri, A. Palmieri
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引用次数: 2

摘要

胆道闭锁(BA)是一种致命的疾病,导致缺乏有效的胆道引流,一年内不可避免地导致肝功能衰竭和肝硬化,在没有矫正手术或肝移植的情况下,通常在几个月内致命。事实上,BA是儿童肝移植最常见的适应症。在此,我们提出一个罕见的婴儿意外死亡的情况下,由于BA诊断只有尸检的背景下,儿童忽视和粗心大意的父母的一部分。从临床病史来看,几个月后,父母不再带女儿去做任何医疗检查,尽管有适应症和明确的随访建议。尸检显示胆囊发育不全,伴有胆道性肝硬化,肝脏结构和实质完全破坏。组织学检查证实由胆管发育不全引起的严重胆汁性肝硬化。在这种情况下,儿童的疏忽被证明是致命的,因为儿科医生的早期诊断可能会允许适当的手术治疗,从而避免儿童过早死亡。我们强调教育和告知父母(特别是弱势群体)健康问题的重要性。与此同时,初级保健医生应密切监测婴儿的病情和发育情况,以识别BA的早期预警信号和症状,并牢记及时诊断和适当的手术治疗可以挽救大多数这些儿童的生命。
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Unexpected Infant Death Due to Undiagnosed Biliary Atresia: A Case of Fatal Neglect.
Biliary atresia (BA) is a fatal condition resulting in the lack of effective biliary drainage leading invariably to liver failure and cirrhosis within a year, and it is often lethal within a few months in the absence of corrective surgery or liver transplantation. In fact, BA is the most common indication for pediatric liver transplantation.Herein, we present a rare case of unexpected infant death due to BA diagnosed only postmortem in a context of child neglect and carelessness on the part of the parents. It emerged from the clinical history that after a few months, the parents no longer took their daughter to any medical checkups despite the indications and express recommendations for follow-up. The autopsy revealed agenesis of the gallbladder with BA and complete disruption of the hepatic architecture and parenchyma from biliary cirrhosis. Histological examinations documented severe biliary cirrhosis from hypoplasia of the biliary ducts.The child neglect in this case proved fatal inasmuch as an early diagnosis by a pediatrician would have likely allowed appropriate surgical treatment, thus avoiding the untimely death of the child. We highlight the importance of educating and informing parents (especially the disadvantaged) in matters of health. At the same time, primary care physicians should closely monitor the conditions and development of infants so as to recognize the early warning signs and symptoms of BA, bearing in mind that a timely diagnosis and proper surgical treatment can save the lives of most of these children.
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