Abstract：
BACKGROUND: Intrauterine herpes simplex virus (HSV) infection is uncommon and challenging to diagnose, requiring detection of HSV in skin lesions within 48 h post-birth.
METHODS: 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.
CONCLUSIONS: This case marks the first retrospective diagnosis of intrauterine HSV infection via PCR on preserved umbilical cord, underscoring its diagnostic value.
METHODS: 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.
CONCLUSIONS: This case marks the first retrospective diagnosis of intrauterine HSV infection via PCR on preserved umbilical cord, underscoring its diagnostic value.
摘要：
背景：子宫内单纯疱疹病毒（HSV）感染并不常见，诊断具有挑战性，需要在出生后48小时内检测皮肤病变中的HSV。
方法：一名早产女婴出现典型的水泡三联征，小头畸形,和脉络膜视网膜炎,但由于来自囊泡/血清的TORCH病原体的阴性结果,最初的诊断方法难以捉摸.在7个月时被认为是发育迟缓和癫痫，她的脑成像显示钙化和皮质发育不良。她保存的干燥脐带的聚合酶链反应（PCR）检测到HSV-2DNA，诊断宫内HSV感染。HSV-2后来在8个月时的复发性水泡中发现，但在脑脊液或脑组织中未发现。文献回顾发现104例先天性/宫内HSV；28.8%呈现典型三联征，50%是使用出生后48小时收集的标本诊断的。
结论：该病例标志着首次通过PCR对保存的脐带进行宫内HSV感染的回顾性诊断，强调其诊断价值。
方法：一名早产女婴出现典型的水泡三联征，小头畸形,和脉络膜视网膜炎,但由于来自囊泡/血清的TORCH病原体的阴性结果,最初的诊断方法难以捉摸.在7个月时被认为是发育迟缓和癫痫，她的脑成像显示钙化和皮质发育不良。她保存的干燥脐带的聚合酶链反应（PCR）检测到HSV-2DNA，诊断宫内HSV感染。HSV-2后来在8个月时的复发性水泡中发现，但在脑脊液或脑组织中未发现。文献回顾发现104例先天性/宫内HSV；28.8%呈现典型三联征，50%是使用出生后48小时收集的标本诊断的。
结论：该病例标志着首次通过PCR对保存的脐带进行宫内HSV感染的回顾性诊断，强调其诊断价值。
