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Congenital Syphilis

Syphilis infection transmitted from an infected mother to her fetus during pregnancy or delivery. Can cause severe multi-system disease, stillbirth, or long-term disability if untreated.

Also known as: Neonatal Syphilis

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Referral and warning signs

When to refer

Refer to Paediatrician/Neonatologist/Infectious Diseases specialist for diagnosis confirmation, treatment initiation, and long-term follow-up. Refer for specialist consultations (Ophthalmology, Audiology, Neurology) as indicated.

Red flags

  • Signs of early congenital syphilis in a neonate (rash, snuffles, hepatosplenomegaly, skeletal abnormalities)
  • Mother with untreated or inadequately treated syphilis during pregnancy
  • Infant RPR/VDRL titer fourfold higher than mother's
  • Positive CSF-VDRL

Signs and symptoms

  • Often asymptomatic at birth.
  • Early Congenital Syphilis (Typically <2 years, often first weeks/months):
  • - Skin: Maculopapular rash (may include palms/soles), bullous lesions (pemphigus syphiliticus), condylomata lata.
  • - Nasal: Persistent rhinitis ('snuffles') - often bloody/purulent discharge.
  • - Hepatosplenomegaly, jaundice.
  • - Lymphadenopathy.
  • - Skeletal: Osteochondritis, periostitis (causing pain, pseudoparalysis of Parrot).
  • - Hematologic: Anaemia, thrombocytopenia.
  • - CNS: Meningitis, hydrocephalus.
  • - Failure to thrive.
  • Late Congenital Syphilis (>2 years):
  • - Dental: Hutchinson's teeth (notched incisors), Mulberry molars (poorly developed cusps).
  • - Ocular: Interstitial keratitis, chorioretinitis, optic atrophy.
  • - Auditory: Sensorineural hearing loss (8th nerve deafness).
  • - Skeletal: Saber shins (anterior bowing of tibia), Clutton's joints (painless knee swelling), saddle nose deformity, frontal bossing.
  • - Neurologic: Mental subnormality, seizures, cranial nerve palsies.
  • - Cutaneous: Gummas.

Risk factors

  • Untreated or inadequately treated maternal syphilis during pregnancy.
  • Lack of antenatal care/screening.
  • Maternal syphilis treatment less than 30 days before delivery.
  • Maternal treatment with non-penicillin regimen (e.g., erythromycin) during pregnancy.
  • High maternal non-treponemal titers (e.g., RPR ≥1:16) at delivery despite treatment.

Diagnosis

Clinical assessment

Suspicion based on maternal syphilis history and/or infant signs/symptoms consistent with congenital syphilis.

Investigations

  • Maternal Serology: Review mother's syphilis test results (RPR/VDRL and TPHA/TPPA) and treatment history.
  • Infant Serology:
  • - Non-treponemal test (RPR/VDRL) on infant serum (NOT cord blood). A titer fourfold higher than the mother's titer is suggestive of infection.
  • - Treponemal test (TPHA/TPPA) on infant serum - difficult to interpret <18 months due to passive maternal antibodies.
  • CSF Examination (Lumbar Puncture): Recommended for all infants with confirmed or highly probable congenital syphilis, or neurological signs. Assess for pleocytosis, elevated protein, and positive CSF-VDRL.
  • Long Bone X-rays: Look for characteristic osteochondritis/periostitis.
  • Complete Blood Count (CBC) with differential.
  • Liver Function Tests (LFTs).
  • Chest X-ray (if respiratory symptoms).
  • Ophthalmologic exam.
  • Auditory evaluation (Brainstem Auditory Evoked Response - BAER).

Diagnostic criteria

Confirmed congenital syphilis requires visualization of T. pallidum in body fluids/lesions (rarely done). Presumptive diagnosis based on combination of: Maternal syphilis status/treatment adequacy, Infant clinical findings, Infant non-treponemal titer compared to mother's, CSF findings, Long bone X-ray findings.

Management

Non-pharmacological management

  • Supportive care for complications (e.g., feeding difficulties, respiratory support).

Pharmacological treatment

  • Treatment depends on diagnostic certainty and whether CSF evaluation was performed/normal.
  • Scenario 1: Proven or Highly Probable Congenital Syphilis (Positive CSF VDRL, or Abnormal CSF cells/protein with positive infant serology, or Positive darkfield/PCR from infant):
  • - Aqueous Crystalline Penicillin G 100,000-150,000 units/kg/day, administered as 50,000 units/kg/dose IV every 12 hours for first 7 days of life, then every 8 hours, for a total of 10 days.
  • - OR Procaine Penicillin G 50,000 units/kg/dose IM once daily for 10 days.
  • Scenario 2: Normal CSF evaluation AND Infant RPR/VDRL titer ≥ fourfold mother's titer OR Positive infant treponemal test with physical/radiographic evidence:
  • - Treat as above with 10-day course of Aqueous Pen G or Procaine Pen G.
  • Scenario 3: Normal CSF, Normal physical exam, Infant RPR/VDRL ≤ fourfold mother's titer, AND Mother inadequately treated (<4 weeks before delivery, non-penicillin regimen, unknown treatment, evidence of relapse/reinfection):
  • - Treat as above with 10-day course of Aqueous Pen G or Procaine Pen G.
  • - OR Benzathine Penicillin G 50,000 units/kg IM single dose (ONLY if CSF normal and close follow-up assured).
  • Scenario 4: Normal CSF, Normal physical exam, Infant RPR/VDRL ≤ fourfold mother's titer, AND Mother adequately treated (>4 weeks before delivery with appropriate penicillin regimen, no signs of reinfection):
  • - Benzathine Penicillin G 50,000 units/kg IM single dose.
  • - Some guidelines suggest close follow-up without treatment is an option if follow-up is certain.
  • Treat both parents appropriately for their stage of syphilis.

Monitoring

  • Clinical monitoring for resolution of signs.
  • Serological follow-up with RPR/VDRL titers at 3, 6, 12 months until non-reactive or low stable titer.
  • Repeat CSF exam at 6 months if initially abnormal.
  • Long-term ophthalmologic and audiologic follow-up.

Complications

  • Stillbirth, neonatal death
  • Hydrops fetalis
  • Severe anaemia, thrombocytopenia
  • Neurodevelopmental delay
  • Blindness
  • Deafness
  • Skeletal deformities
  • Dental anomalies

Prevention

  • Early and universal antenatal screening for syphilis in pregnant women (ideally at first visit and potentially again in third trimester).
  • Prompt and adequate treatment of infected pregnant women with Penicillin.
  • Partner notification and treatment.
  • Safe sex practices.

Patient education

  • Explain the diagnosis and importance of completing the full 10-day antibiotic course for the infant.
  • Explain the need for parental treatment.
  • Discuss the importance of follow-up clinical and serological monitoring for the infant.
  • Educate on long-term potential complications and need for specialist follow-up (eyes, hearing).
  • Discuss prevention in future pregnancies through early antenatal care and screening.

Uganda-specific notes

Antenatal screening using RPR/VDRL or Duo Kit is crucial. Penicillin remains the only effective treatment for preventing congenital syphilis and treating infected infants. Ensure adequate maternal treatment documented.

References

  • Uganda Clinical Guidelines (UCG) 2023

    Chapter 3, Section 3.2.9.2

For learning and professional reference. Use current local guidance and clinical judgement.

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