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General Manifestations
Congenital syphilis is a congenitally acquired infection with the bacterium Treponema pallidum. In 2011, 360 cases were reported in the United States, with most cases occurring in the southeastern US. Although it is a relatively uncommon presentation, congenital syphilis can be a devastating diagnosis for a child, and earlier diagnosis carries the potential for significant improvement to an affected individual's quality of life. Syphilis is a reportable condition in all 50 states and the District of Columbia, and suspected cases of syphilis, including congenital syphilis, should be reported to the proper public health authorities as soon as possible.
Transmission of T. pallidum can occur in utero via the placenta after 4 months gestation, or through exposure to infectious vaginal lesions during delivery. The subsequent signs and symptoms of congenital syphilis in the child can be divided into two categories: (1) early congenital syphilis describes manifestations presenting before 2 years of age; (2) late congenital syphilis describes manifestations presenting after 2 years of age.
The symptoms of late congenital syphilis are analogous to tertiary syphilis in the adult. The signs and symptoms for both arise from either continued inflammatory processes against T. pallidum antigens or attempts by the body to control the damage from infection in utero. Although late congenital syphilis is subclinical in 60% of cases, manifestations can occur into the early 20s and most commonly involve the bones, teeth, and nervous system. Hutchinson's triad, which is pathognomonic for late congenital syphilis, is defined by the presence of interstitial keratitis, Hutchinson incisors, and eighth nerve deafness.
Codes
ICD10CM: A50.7 – Late congenital syphilis, unspecified
SNOMEDCT: 82323002 – Late congenital syphilis (2 years OR more)
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Diagnostic Pearls
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Differential Diagnosis & Pitfalls
Various symptoms by themselves can be attributed to diseases other than late manifestations of congenital syphilis. However, multiple manifestations of late congenital syphilis increase the probability of diagnosis.
Many of the skeletal findings of late congenital syphilis overlap with those of rickets, including frontal bossing, Higouménakis sign, and saber shins. In addition, in evaluating saber shins and Higouménakis sign, the possibility of underlying osteomyelitis, trauma, or tumors should be evaluated. Child abuse also needs to be considered.
Saddle nose deformities can occur with trauma and infections as well.
Serologic tests that are reactive for syphilis can also be attributed to other non-syphilis treponemal infections, or acquired syphilis. As such, any child aged 1 year or older with reactive syphilis serologic tests should be assessed carefully to rule out acquired syphilis from sexual abuse.