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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