Syphilis, Congenital
also see TORCH

Onset of symptoms may be from birth to 3 months of age.

Common features:

• stillbirth
• prematurity, low birth weight, IUGR
• hepatomegaly, splenomegaly
• skeletal abnormalities
• skin lesions
• pneumonia
• hyperbilirubinemia
• anemia
• snuffles (nasal discharge)
• CSF abnormalities.

Common late manifestations (appear > 2 yrs of age):

1. Teeth -Hutchinson teeth (notched, pegged), mulberry molars
2. Eye -interstitial keratitis
3. Cranial nerves -8th nerve deafness
4. Skeletal -frontal bossing, high arched palate, saddle nose (markedlydepressed bridge), saber shin (sharp-edgedanteriorlyconvextibia).
5. Skin -rhagades(cracks, fissures atmucocutaneousjunctions)
6. #1, 2, & 3 are part of Hutchinson’s triad

Extended discussion

Epidemiology (Treponema Pallidum):

• Transmitted at any time during pregnancy or at birth
• Transmitted at any disease stage
• Almost 100% transmission
• 40% fetal or infant death

Presentation

• Intrauterine infection presents with stillbirth, hydropsfetalis, or prematurity (40%)
• Early congenital syphilis represents manifestations of disease in first two years of life
  • Transplacental spirochetemia
  • Analogous to secondary syphilis
  • Earliest signs poor feeding and snuffles(syphilitic rhinitis)-often bloody and associated with laryngitis
  • Diffuse maculopapulardesquamativerash(particularly on palms, soles around the mouth and anus)
  • Periostitis, osetochondritis and perichondritis(90% symptomatic and 20% asymptomatic infants with radiographic abnormalities of long bones)
  • CSF often will show increased protein and pleocytosis (aseptic meningitis)
  • Severely ill can have hydrops, anemia, hepatosplenomegaly, pneumonitis, glomerulonephritis
  • Summary of Sx
    • Gen: LAD, FTT
    • CNS: Chorioretinitis
    • Pulmonary: Snuffles
    • GI: HSM, jaundice, inc LFT’s, cholestasis
    • Skin: Extramedulary hematopoeisis, mucocutaneous rash (hands and feet),condylomatous lesions
    • Heme: Hemolytic anemia
    • Ortho: Osteochondritis, periostitis (painful >> pseudoparalysis of Parrot)
    • Periostitis: #1 clinical manifestation of early congenital syphilis; Usually affects long bones; Usually asymptomatic; May be painful
• Late congenital syphilis represents manifestations of disease after two years of life, primarily near puberty. Occurs in the untreated infant regardless of early sx’s; results from chronic inflammation of the bone, teeth, and CNS
  • HEENT:
    • Saddle nose
    • frontal bossing (“olympian brow”)
    • keratitis
    • CN VIII deafness
  • Teeth/bone (6th year):
    • Hutchinson teeth
    • mulberry molars
    • Saber shins
    • clutton joints (painless symmetrical hydrarthrosis/synovitis of the knee joint)
  • Skin:
    • Rhagades = linear scars/cracks/fissures, esp mucocutaneous (mouth, anus)
    • Gummas (soft, tumor-like growth of the tissues (granuloma) caused by syphilis)
• Hutchinson’s Triad
  • Interstitial keratitis: 5-20 years of age
  • CN VIII sensorineural deafness: 10-40 years of age
  • Hutchinson’s teeth: Peg-shaped, central incisors

Diagnosis: Serology

• Screening during pregnancy 1stand 3rd trimester
• Nontreponemal tests (VDRL and RPR) detect antibodies toward a lipoidal antigen from T. pallidum; useful for following disease progression
• Treponemal tests (FTA-ABS): Remain reactive for life; not useful to follow disease activity
• Tests do not distinguish disease in an infant from passively transferred maternal antibody thus titers must be followed a rising titeror titer 4:1 of mothermakes infection likely

Other evaluation: CSF for VDRL, cell ct, protein; CBC; Long-bone films looking for periostitis

Evaluation of Asymptomatic infant. Work up if:

• Maternal treatment inadequate (<1month), unknown, or undocumented
• If maternal treatment within 30 days of delivery
• Mother treated with non-Penicillin regimen
• Maternal titers not decreased appropriately after PCN tx
• Maternal titers have increased 4-fold
• Maternal evaluation not possible
• Infant titers are 4-fold greater than mother’s

For Clincal sx’s:Dx supported by (+) serum nontreponemal test

Evaluation

• Physical exam
• Quantitative nontreponemal serologic test of serum
• CSF analysis: VDRL, cells, protein (high WBC, high protein)
• Long bone radiographs (unless Dx is already established)
• CBC
• Other clinically indicated tests (I.e. CXR, LFTs….)
• If possible, antitreponemal Ab analysis of placenta or umbilical cord

Management - Treat if:

• Mother had untreated or inadequately treated syphilis at delivery (nonpenicillin regimen or penicillin given <30 days before delivery)
• Evidence of maternal relapse
• Physical evidence of active disease
• Positive CSF VDRL
• Infant’s titer is 4-fold greater than mother’s
• If cannot exclude infection
• If f/u questionable
• And follow serology until negative

Treatment:

• Maternal treatment: Penicillin in pregnancy
• Infant treatment: IV penicillin G (100,000 –150,000 U/kg/day) or IM procaine penicillin (50,000 U/kg/day) for 10-14 days
• Prevention: Prenatal screening and appropriate treatment

Follow-up

• evaluations needed at 1, 2, 3, 6, and 12 months of age.
• Serologic nontreponemal tests should be performed at 3, 6, and 12 months after treatment or until results become NR. Patients with increasing titers or stable titers after 6 months should be evaluated and possibly retreated.

CHLA Board Review 2005