Intrauterine infection can result in stillbirth, hydrops fetalis, or prematurity. Clinical symptoms vary but include hepatosplenomegaly, snuffles, lymphadenopathy, mucocutaneous lesions, osteochondritis, rash, hemolytic anemia, and thrombocytopenia. Untreated infants, regardless of whether they manifest symptoms at birth, may develop late symptoms, which usually appear after 2 years of age and involve the CNS, bones, joints, teeth, eyes, and skin. Some manifestations of disease may not become apparent until many years after birth, such as interstitial keratitis, eighth cranial nerve deafness, Hutchinson teeth, bowing of the shins, frontal bossing, mulberry molars, saddle nose, rhagades, and Clutton joints. The combination of interstitial keratitis, eighth cranial nerve deafness, and Hutchinson teeth is commonly referred to as the Hutchinson triad (see Table 66-1).
Many infants are asymptomatic at the time of diagnosis. If untreated, most infants develop symptoms within the first 5 weeks of life. The most striking lesions affect the mucocutaneous tissues and bones. Early signs of infection may be poor feeding and snuffles (syphilitic rhinitis). Snuffles are more severe and persistent than the common cold and are often bloody. A maculopapular desquamative rash develops over the palms and soles and around the mouth and anus. The rash may progress to become vesicular with bullae. Severely ill infants may be born with hydrops and have profound anemia. Severe consolidated pneumonia may be present at birth, and there may be laboratory findings consistent with a glomerulonephritis. CSF evaluation may reveal a pleocytosis and elevated protein. More than 90% of symptomatic infants exhibit radiographic abnormalities of the long bones consistent with osteochondritis and perichondritis.
No newborn should be discharged from the hospital without knowledge or determination of the mother’s serologic status for syphilis. All infants born to seropositive mothers require a careful examination and a quantitative nontreponemal syphilis test. Dark-field examination of direct fluorescent antibody staining of organisms obtained by scraping a skin or mucous membrane lesion is the quickest and most direct method of diagnosis. More commonly, serologic testing is used. The nontreponemal reaginic antibody assays—the Venereal Disease Research Laboratory (VDRL) and the rapid plasma reagin—are helpful as indicators of disease. The test performed on the infant should be the same as that performed on the mother to enable comparison of results. An infant should be evaluated further if the maternal titer has increased fourfold, if the infant’s titer is fourfold greater than the mother’s titer, if the infant is symptomatic, or if the mother has inadequately treated syphilis. A mother infected later in pregnancy may deliver an infant who is incubating active disease. The mother and infant may have negative serologic testing at birth. When clinical or serologic tests suggest congenital syphilis, CSF should be examined microscopically, and a CSF VDRL test should be performed. An increased CSF white blood cell count and protein concentration suggests neurosyphilis; a positive CSF VDRL is diagnostic.
Parenteral penicillin is the preferred drug of choice for treatment of syphilis. Penicillin G for 10 to 14 days is the only documented effective therapy for infants who have congenital syphilis and neurosyphilis. Infants should have repeat nontreponemal antibody titers repeated at 3, 6, and 12 months to document falling titers. Infants with neurosyphilis must be followed carefully with serologic testing and CSF determinations every 6 months for at least 3 years or until CSF findings are normal.
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