The New England Journal of MedicineCongenital Syphilis

Undiagnosed Maternal Syphilis Leads to Congenital Case: A Reminder of the Importance of Comprehensive Prenatal Screening

A case report details the diagnosis and treatment of congenital syphilis in a premature newborn, highlighting the critical need for comprehensive prenatal screening. The case tells the story in pictures of the potential consequences of missed maternal syphilis and demonstrates the characteristic clinical and radiological findings associated with congenital syphilis.

Key Points:

• A baby boy born at 31 weeks’ gestation presented with hepatomegaly on the first day of life
• The mother had delivered by cesarean section due to fetal distress
• Physical examination revealed an enlarged liver but no skin lesions, lymphadenopathy, or splenomegaly
• Laboratory findings included thrombocytopenia and elevated alkaline phosphatase
• Abdominal ultrasonography showed a normally echogenic liver extending below the right kidney
• Rapid plasma reagin (RPR) titer was 1:128, and fluorescent treponemal-antibody absorption test was positive
• Polymerase-chain-reaction assays of cerebrospinal fluid and nasal secretions were positive for Treponema pallidum
• Radiographs of the baby’s legs revealed periostitis and a “celery stalk” appearance in the distal femur
• Wimberger sign (erosion at the medial aspect of the proximal tibial metaphysis) was observed
• The mother was asymptomatic with an RPR titer of 1:128
• Syphilis screening had not been included in the mother’s routine prenatal testing
• Treatment consisted of intravenous benzylpenicillin for the newborn and intramuscular benzathine penicillin G for the mother
• Two weeks post-treatment, the baby’s RPR titer decreased to 1:32
• At a 6-month follow-up, the baby showed normal development

HCN Medical Memo
This case serves as a critical reminder of the importance of comprehensive prenatal screening, including syphilis testing. Healthcare providers should remain vigilant for signs of congenital syphilis in newborns, particularly when maternal screening has been incomplete or unavailable. Early diagnosis and prompt treatment are essential for preventing long-term complications and ensuring optimal outcomes for affected infants.

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