Diagnostic Utility of Preserved Dried Umbilical Cord Polymerase Chain Reaction in Intrauterine Herpes Simplex Virus Infection: A Case Report and Literature Review.

Neonatology Pub Date : 2024-08-13 DOI:10.1159/000540506

Yasumasa Tsuda, Takeshi Matsushige, Hirofumi Inoue, Madoka Hoshide, Hiroki Hamano, Keiko Hasegawa, Masako Moriuchi, Hiroyuki Moriuchi, Shunji Hasegawa

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Abstract

Introduction: Intrauterine herpes simplex virus (HSV) infection is uncommon and challenging to diagnose, requiring detection of HSV in skin lesions within 48 h post-birth.

Case presentation: A preterm female infant presented with the typical triad of blisters, microcephaly, and chorioretinitis, but the initial diagnostic approach was elusive due to negative results for TORCH pathogens from vesicles/serum. Referred at 7 months for developmental delay and epilepsy, her brain imaging showed calcification and cortical dysplasia. Polymerase chain reaction (PCR) of her preserved dried umbilical cord detected HSV-2 DNA, diagnosing intrauterine HSV infection. HSV-2 was later found in relapsed blisters at 8 months but not in cerebrospinal fluid or brain tissue. A literature review identified 104 congenital/intrauterine HSV cases; 28.8% presented the typical triad, and 50% were diagnosed using specimens collected 48 h post-birth.

Conclusion: This case marks the first retrospective diagnosis of intrauterine HSV infection via PCR on preserved umbilical cord, underscoring its diagnostic value.

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保存的干脐带聚合酶链反应在宫内单纯疱疹病毒感染中的诊断作用：病例报告与文献综述

导言：宫内单纯疱疹病毒（HSV）感染并不常见，而且诊断难度很大，需要在出生后 48 小时内从皮损中检测出 HSV：一名早产女婴出现典型的三联征：水疱、小头畸形和脉络膜视网膜炎，但由于囊泡/血清中的 TORCH 病原体检测结果为阴性，最初的诊断方法难以确定。7 个月大时，她因发育迟缓和癫痫转诊，脑部成像显示有钙化和皮质发育不良。对她保存的干燥脐带进行聚合酶链反应（PCR），检测到 HSV-2 DNA，诊断为宫内 HSV 感染。后来，在她8个月大时复发的水疱中发现了HSV-2，但在脑脊液或脑组织中未发现HSV-2。文献综述共发现104例先天性/宫内HSV病例，其中28.8%的病例具有典型的三联征，50%的病例是通过采集出生后48小时的标本确诊的：本病例是首例通过保留脐带的 PCR 进行宫内 HSV 感染回顾性诊断的病例，突出了其诊断价值。

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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Neonatology

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