This document presents a case of congenital syphilis in a female infant admitted at 1 month of age with bilateral lower limb swelling and redness. The document then provides background information on congenital syphilis including its epidemiology, clinical manifestations, diagnosis and management. It discusses challenges in diagnosis and follow up in resource-limited settings. The case presentation is used to highlight investigations performed and management with penicillin. Follow-up and challenges in Rwanda are also discussed.

1. Yves MUTABANDAMA
March 10th 2015
Case presentation

2. Plan
 Clinical case
 Introduction
 epidemiology
 Clinical manifestations
 Diagnosis
 Management
 Follow-up

3. Clinical case
 Bb M.F, Female,
 DOB: 25th/12/14
 Admitted on 18th/02/2015
 CC: 3d history of Bilateral lower limbs swelling, redness and at the
knees. Hb at the referring hospital:4g/dl
 BW: 3.5kg, cried immediately
 ROS: at 1mo of age: skin rashes in the back, mandible and abdomen,
no fever, b/feeding well no vomiting, no cough
 P/E:
 W<3rd perc; “nl heigth and HC”;
 nl vital signs
 Pallor, no lymphnodes; no HSM; bilateral swelling of the knees with
reduced ROM; R swelling of the elbow and wrist, hypopigmented
macules at the level of the mandible, thigh and abdomen
 CNS and CVS: NL
 Any question?
 DD??:

4. CONGENITAL SYPHILIS

5. Introduction
 Infection of spirochetes: treponema pallidum
 Significant morbidity if not treated/inadequately
 Transmission:
 sexual; via placenta; during delivery (maternal genital
lesion)
 Vertical occurs anytime during gestation
 decreases as maternal disease progresses: primary-
syphilis 70–100%; secondary 67% ; and 40% for early
latent syphilis to 10% for late latent disease
 high nontreponemal maternal test titres
Rana Chakraborty, Suzanne Luck Syphilis is on the increase: the implications for child health Arch Dis Child February
2008 Vol 93 No 2

6. Introduction
primary and secondary syphillis
Courtesy of Charles B Hicks, MD. www.visualdx.com

7. Epidemiology
WHO want to eliminate mother to child transmission of syphilis in 2015, they
calculated global and regional estimates of syphilis in pregnancy, as well as
antenatal coverage

9. Clinical manifestations
WHO estimates:
1M of pregnancies are affected worldwide
 Abortion or stillbirth: 460.000
 Prematurity; Low birth weight: 270.000
A review of diagnostic tests for congenital syphilis in newborns T. Herremans & L. Kortbeek & D. W. Notermans
Eur J Clin Microbiol Infect Dis (2010) 29:495–501

10. Clinical manifestations
 Asymptomatic/symptomatic
 60% asymptomatic at birth
 Early (first 2years) / late (after 2years)
 vasculitis, with progression to necrosis and
fibrosis

11. Rana Chakraborty et al. syphilis is on the increase: the implication for child health. Arch Dis Child February
2008 Vol 93 No 2

12.  Objective: investigate clinical features and
outcomes of children treated for congenital
syphilis in Brazil from 1997-2004
 490 pregnancies, 9 sets of twins: syphilis on
pregnancy
 379 met the criteria of CS
 Symptoms at birth 21 (5.5%) common in preterm
infants: 21%, vs 3% term
 292 (77%) had a conclusive lab/x-ray evaluation;
 11deaths with cs

13. Clinical Features and Follow-up of Congenital Syphilis Eleonor G. Lago et al. Sexually Transmitted Diseases. Volume 40,
Number 2, February 2013

14. Clinical Features and Follow-up of Congenital Syphilis Eleonor G. Lago et al. Sexually Transmitted Diseases.
Volume 40, Number 2, February 2013

15. Early syphilis

16. Clinical manifestations
Late
 after two years of age most often in puberty
 40 percent of infants born to women with untreated syphilis
 Many organs bust most often bones, teeth, CNS
 25–33% of infants with untreated congenital syphilis have
asymptomatic neurosyphilis
 symptomatic, neurosyphilis can result in eighth nerve
deafness(8-10y)
 Hutchinson’s triad: notch incisor, keratitis and deafness
 saddle nose, palatal erosions, short maxillae, protruding
mandible, frontal bossing, and sabre tibia
 Others: fissuring around the mouth (rhagades).
 Rashes can but distinct from those seen in early syphilis:
nodules and gummata
Rana Chakraborty et al. syphilis is on the increase: the implication for child
health. Arch Dis Child February 2008 Vol 93 No 2

17. Clinical manifestations of late congenital syphilis

18. diagnosis
 Based on clinical and labs findings
 Suspected case:
 Untreated mothers
 Inadequately treated
 Positive maternal serology test within 4weeks
before birth

19. diagnosis
Adequate treatment of syphilis during pregnancy
 More than 4weeks before delivery
 Primary/secondary/early latent: Benzathine penicillin G,
2.4 million units IM in a single dose (usually administered
as 1.2 million units in each buttock)
 Late latent/tertiary/unknown duration: Benzathine penicillin
G, 7.2 million units total, administered as three doses of
2.4 million units IM each, at one week intervals
 decrease four-fold by six months post therapy and become
nonreactive by 12 to 24 months
Errol R norwitz. Syphilis in pregnancy Uptodate.com 2011

20. diagnosis
Difficulties in poorly-resourced settings
 Antenatal care and documentation
 Labs
Available tests: RPR and VDRL;
 Ig G testcompare infant and maternal titres of the same test.
 4fold accepted as significant (sensitivity 4-13%, specificity: 99%)
 If non reactive at 6months the diagnosis of CS can be excluded if the infant was
not treated
 Any increase should raise suspicion
 Falsely negative early primary syphilis, latent acquired syphilis of long duration
and late congenital syphilis
 False positive: viral: mononucleosis, hepatitis, varicella, measles), lymphoma,
tuberculosis, malaria, endocarditis, connective tissue disease, pregnancy,
laboratory error
Harron Saloojee et al. the prevention and management of congenital syphilis: an overview and recommendations. Bulletin
of The World Health Organisation June 2004
Rana Chakraborty et al. syphilis is on the increase: the implication for child health. Arch Dis Child February 2008
Vol 93 No 2

21. diagnosis
Other tests
 Rabbit infectivity test: gold standard
 PCR (sensitivity 78-86%; specificity 100%)
 Darkfield microscopy: amniotic fluid, snuffles
 Ig M test
 Fluorescent Treponemal Antibody-Absorption (FTA-ABS): false-positive rate of
10% and a false-negative rate of up to 35%
 IgM immunoblot: very effective in confirming CS sensitivity of 83–100%,
 IgM ELISAs sensitivity (88–100%) and specificity (100%)
 Evidence of an active infection
 A negative result does not exclude the CS(early infection)
 More effective in mothers
T. Herremans & L. Kortbeek & D. W. Notermans A review of diagnostic tests for congenital syphilis in newborns Eur J Clin Microbiol
Infect Dis (2010) 29:495–501

22. diagnosis
FBC; Xrays; LP; VDRL/RPR
 if the infant or child has signs of congenital
syphilis
 if there is no documented maternal treatment in
pregnancy;
 if the mother was treated within four weeks of
delivery;
 if the maternal treatment was inadequate
SandraR Arnold et al. Congenital syphilis: A guide to diagnosis and management
Paediatr Child Health Vol 5 No 8 November/December 2000

23. CNS
•July 1989 and July 1999, inTexas
•Objective of the study was the diagnosis of CNS infection among
the infant with CS and to assess the standard conventional test
including FBC, VDRL/RPR (blood and CSF); Rx; CSF(protein,
WBC).
•Rabbit-infectivity test, PCR assay, or IgM immunoblot of serum,
blood, or cerebrospinal fluid

24. Results:
 N=148; 65had a positive RIT, PCR, IgM OF SERUM, blood or csf
 The maternal stage of syphilis infection was not associated with the results of the
cerebrospinal fluid RIT
 any abnormal conventional evaluation has a sensitivity of 94 percent, a
specificity of 61 percent.
 Only 1 with positive RIT in the csf and neg conventional test
 Three infants with positive cerebrospinal fluid rabbit-infectivity tests were not
identified by conventional cerebrospinal fluid tests
 combination of cerebrospinal fluid tests (white cell count, measurement of
protein, and VDRL test) had suboptimal sensitivity (82 percent) and specificity
(65 percent)
 a normal physical examination and normal results on conventional evaluations
had good negative predictive values (96 percent and 97 percent, respectively)
Conclusion
 Most infants withT. pallidum Infection of the central nervous system can be
identified by physical examination, conventional laboratory tests, and
radiographic studies However, the identification of all infants required additional
tests

25. Contribution of long-Bones radiographs to the management of congenital
syphilis in the newborn infant
Virginia A. Moyer et al. Arch Pediatr Adolesc Med 1998; 152:353-357
_
 The objective of the study was to determine the
contribution of the long-bones radiographs to the diagnosis
and management of CS
 N=853 in 3large teaching hospitals in Houston
 26 positive P/E; 17(65%) Abnormal Xray,
 166 infants born to adequately treated mothers; all of them
were asymptomatic; only one had an abnormal radiograph
(metaphyseal lucencies)
 Conclusion:
 findings on Xray of symptomatic infants are frequently
abnormal and sometimes even on asymptomatic
 Can stay abnormal in up to 6months in a past infected infant
 Even, when abnormal, can not differentiate an active/past
infection or other conditions its use in routine evaluation
should be reconsidered

26. BACK TO OUR CASE

27. investigations
 WBC: 11.2; N:31.5%; L:65.1% Hb:5,2G/DL;
plt:405
 AST:50,9U/L; ALT: 29,5U/L
 Blood group: B-; malaria:neg
 Brain CT: normal
 RPR: 1/256; VDRL:positive; TPHA: 1/1280
 LP: clear csf, RPR negative, 10WBC, 190RBC,
gram stain is negative; culture: neg
 X-Rays

29. management
 Blood transfusion
 paracetamol
 Cefotaxime 100mg/kg/day for 2d switched to
 Penicillin G IV 50.000IU/kg/dose 6hrly for 10d
 Discharge and follow-up in 1month

30. management
SandraR Arnold et al. Congenital syphilis: A guide to diagnosis and management Paediatr Child Health Vol 5 No 8
November/December 2000

31. TREATMENT
DRUGS
 Aqueous penicillin G (50,000 units/kg IV every 12 hours
[for infants ≤7 days of age] and every 8 hours [>7 days of
age] for a total of 10 days);
 procaine penicillin G 50,000 units/kg IM as a single daily
dose for 10 days.
 Benzathine penicillin (50,000 units/kg intramuscularly as
a single dose)
 If >1month of age; aqueous penicillin G (50,000 units/kg
intravenously every four to six hours for 10 days)
SandraR Arnold et al. Congenital syphilis: A guide to diagnosis and management Paediatr Child Health Vol 5
No 8 November/December 2000

32. Treatment
 None
 Adequate maternal treatment, normal physical
exam, non reactive RPR/VDRL
 Single dose of benzathine penicillin 50.000U/kg
 Inadequate or no treatment but nl P/E; non reactive
RPR/VDRL
 Adequate maternal treatment, normal physical
exam but <4foldmaternal titer
SandraR Arnold et al. Congenital syphilis: A guide to diagnosis and management
Paediatr Child Health Vol 5 No 8 November/December 2000

33. treatment
 10 days of parenteral penicillin if:
 Examination compatible with congenital syphilis or
visualization of spirochete in clinical specimen
 ≥ Fourfold maternal titer (VDRL/RPR)
 Abnormal or incomplete of one of these exams: CBC,
plt; LP(protein, cells, VDRL/RPR); quantitative VDRL; X
rays
SandraR Arnold et al. Congenital syphilis: A guide to diagnosis and management Paediatr Child Health Vol 5 No 8
November/December 2000

34. Follow-up at the OPD
 147 were followed up; 120/398 in CS; 27/120 in
the MS group between 8-60mo
 Weight/age lower in CS 8- MS1
 16/120 (13.3%) one or more sequelae- 0/27
 Only 4/16 had an abnormal physical examination
at birth
 other 4/16, the onset of symptoms was within the
first 4 weeks of life
 13 of the 16 neonates had lab/x-ray findings

35. Clinical Features and Follow-up of Congenital Syphilis Eleonor G. Lago et al.
Sexually Transmitted Diseases. Volume 40, Number 2, February 2013

36. Follow-up
 RPR or VDRL
 Use the same
 At 1, 2,4, 6, 12months
 Fourfold decrease at 6months, negative at 12months
 If not decreasing, or remain positive consider retreating
 Csf (if previously abnormal)
 If positive at 6months, consider retreating
 Uninfected babies
 serial nontreponemal tests
 Should be negative at 6months
SandraR Arnold et al. Congenital syphilis: A guide to diagnosis and management Paediatr Child Health
Vol 5 No 8 November/December 2000

37. RWANDA
challenges
 ANTENATAL CARE
 LABS (non treponemal titres)
 Follow up
 Availability of medications
Questions
 Are we (in the HC, DH,) aware of its mortality and
morbidity?
 Do we know if the pregnant women are adequately
treated?
 Do we know if babies from reactive maternal non
treponemal test need evaluation and follow-up?

38. RWANDA
Suggestion
 Management in the DH
 Screening of all pregnancies (1st trimester and
especially when they present for delivery or soon
after) and adequate ttt +partner
 Treat all “cases at risk” with a 10days regimen and or
a dose of benzathine penicilline (if indicate and if
possible follow-up). Why?
 No evidence of a good maternal response
 Not all the basics evaluations are available to exclude
CS
 Counseling of the parents and follow up at OPD at
least 3times within one year

39. REFERENCES
 Uptodate.com
 Rana Chakraborty, Suzanne Luck Syphilis is on the increase: the
implications for child health Arch Dis Child February 2008 Vol 93 No 2
 SandraR Arnold et al. Congenital syphilis: A guide to diagnosis and
management Paediatr Child Health Vol 5 No 8 November/December
2000
 G. Lago et al. Clinical Features and Follow-up of Congenital Syphilis
Eleonor Sexually Transmitted Diseases. Volume 40, Number 2,
February 2013
 Virginia A. Moyer et al. Contribution of long-Bones radiographs to the
management of congenital syphilis in the newborn infant
Arch Pediatr Adolesc Med 1998; 152:353-357
 Harron Saloojee et al. the prevention and management of congenital
syphilis: an overview and recommendations. Bulletin of The World
Health Organisation June 2004
 Eleonor G. Lago et al. Clinical Features and Follow-up of Congenital
Syphilis Sexually Transmitted Diseases. Volume 40, Number 2,
February 2013
 T. Herremans & L. Kortbeek & D. W. Notermans A review of diagnostic
tests for congenital syphilis in newborns Eur J Clin Microbiol Infect Dis
(2010) 29:495–501

40. Thank you!