Congenital and perinatally acquired infections: Case

This infant has the classic presentation of early congenital syphilis. Blood-tinged nasal discharge (snuffles), a maculopapular rash on the palms and soles, and hepatosplenomegaly form a pathognomonic triad, and the maternal history is the key: a reactive syphilis serology at 34 weeks treated with only a single dose of benzathine penicillin two days before delivery is inadequate to prevent congenital infection, because effective prevention requires treatment completed at least 30 days before delivery. Congenital syphilis is entirely preventable, and this case represents a failure of antenatal access and treatment timing. [1]

Clinical findings

The clinical findings reflect widespread spirochaetal dissemination. The nasal discharge is highly infectious. The rash, particularly on the palms and soles, and the hepatosplenomegaly with associated hepatitis and often conjugated hyperbilirubinaemia are typical. Additional findings may include generalized lymphadenopathy, pseudoparalysis of Parrot from painful periostitis and osteochondritis, a Wimberger sign (metaphyseal destruction of the medial proximal tibia), thrombocytopenia, and an anaemia. Long-bone radiographs characteristically show periostitis and osteochondritis. [2]

Management

Confirm the diagnosis with both a non-treponemal test (RPR or VDRL) to quantify disease activity and a treponemal-specific test (TPPA) to confirm, and compare the infant's non-treponemal titre against the mother's - a fourfold or greater rise in the infant titre confirms active congenital infection. Send a complete blood count, liver function tests, and a long-bone radiograph series. Perform a lumbar puncture for CSF cell count, protein, VDRL, and FTA-ABS to evaluate for neurosyphilis. [1]

Treat with aqueous crystalline penicillin G 50,000 units per kg per dose intravenously, 12-hourly for the first seven days of life and then 8-hourly, for a total of 10 days. Where the infant is older and stable, procaine penicillin may be an alternative, but intravenous aqueous penicillin is the standard. Failure to complete the course or use of an inappropriate agent risks progression to late stigmata such as interstitial keratitis, Hutchinson teeth, saddle-nose deformity, and eighth-nerve deafness. [1]

Public-health management is non-negotiable. Notify the case, trace and treat sexual contacts, screen the mother and any siblings, and arrange follow-up serology at 3, 6, and 12 months to document a falling non-treponemal titre confirming cure. In this case the late antenatal presentation and inadequate treatment point to a systems failure in maternal access to care, and addressing the social determinants is part of the management. [1]

Prevention and the broader picture

The broader lesson of this case is that every case of congenital syphilis is a preventable failure. The strategy is universal antenatal screening in every pregnancy, repeat screening in the third trimester for high-risk women, treatment of infected women with benzathine penicillin at least 30 days before delivery, partner treatment, and clear neonatal follow-up. The same logic of prevention applies to the other vertically transmitted infections: hepatitis B is reliably prevented with birth-dose HBIG and vaccine, and perinatal HIV with maternal antiretroviral therapy and infant prophylaxis. The candidate should connect this single case to the population-level prevention framework that, when functioning, makes congenital infection rare. [3]