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.
Plain Language Summary
Congenital intrauterine infection occurs when mother-to-fetus transmission of infection occurs during pregnancy, disrupting fetal development. Intrauterine HSV infection is rare and difficult to diagnose because HSV needs to be detect in specimens collected within 48 h of birth. Here, we present the case of an infant with typical signs of intrauterine HSV infection, including the brain, eye, and skin lesions, diagnosed retrospectively at the age of 7 months using preserved dried umbilical cord. Additionally, we conducted a literature review of methods used for the diagnosis of intrauterine HSV infection. A female infant was born with the typical signs, but was not diagnosed during the neonatal period because skin and blood samples tested negative. She was referred to our hospital at the age of 7 months because of developmental delay and seizures. Polymerase chain reaction (PCR) of a preserved dried umbilical cord specimen detected HSV type 2, confirming the diagnosis of intrauterine HSV infection. In Japan, umbilical cords are traditionally dried and preserved at home after birth as a symbol of the mother-child bond. Detection of virus in umbilical cord specimens strongly suggests infection before birth. We reviewed 104 previously reported cases of congenital or intrauterine HSV infection, of which 28.8% had the typical triad (skin, brain, and eye lesions), and 50% were diagnosed using specimens collected after 48 h post-birth. To our knowledge, this is the first retrospective diagnosis of intrauterine HSV infection based on PCR testing of preserved dried umbilical cord, underscoring its diagnostic value.
