February 2007
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Case Notes

Congenital Syphilis Presenting as Swelling of Fingers and Toes

Anju Aggarwal*, Sunil Gomber**, Vikas Loiwal***


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Congenital syphilis has varied manifestations in first two years of life. A case of 4- month-old child who was presented with painless swelling of finger and toes is reported. Family history was suggestive of syphilis in parents and one sibling. VDRL test in serum was positive in 1:128 dilution. Treponema pallidum haemagglutination test was positive. The child was treated with crystalline penicillin and responded favourably. [J Indian Med Assoc 2007; 105: 94-5]

 

Key words : Congenital syphilis, Treponema pallidum, Venereal Disease Research Laboratorty (VDRL),
Treponema pallidum haemagglutination test (TPHA).


Incidence of syphilis was declining though there has been a resurgence in the number of cases in certain countries and it remains endemic in others1-3. Congenital syphilis results from transplacental transmission of spirochaetes and has varied manifestations in first two years of life. A case of congenital syphilis presenting as swelling of fingers and toes of a 4-month-old child is presented.

Case Report

A four-month male infant was presented with painless swelling of fingers and toes for last 15 days. The child was born to a fifth gravida mother. There was no history of birth asphyxia, trauma, jaundice, rash, bleeding, petechial spots or oral ulcers. There was no history of contact with tuberculosis. Mother had a history of spontaneous abortion 12 years back. She also gave a history of maculopapular rash involving palms and soles for which she had received two penicillin injections three years back. There was a history of genital chancre in the father 4 years back for which he received inadequate treatment. Two siblings, an 11-year-old sister and 4-year-old brother were alive and healthy. A brother aged 2 years had similar manifestation in the form of swelling of forearm and legs at 5 months of age. There was no evidence suggestive of tuberculosis in the parents or any other close contact.
Examination — The child was active, healthy, weighed 6.75 kg. There was mild pallor. There was no evidence of mucocutaneous lesions, rash or lymphadenopathy. The liver was palpable 2cm below right costal margin, spleen was not palpable. Examination of chest, cardiovascular system and central nervous system did not reveal any abnormalities. The child was developmentally normal. Syphilis, sickle cell anaemia and tuberculous dactylitis was kept as a possibility in such a presentation.
Investigations — His haemoglobin was 7.9g/dl, TLC 9100/cmm, reticulocyte count of 5%. Peripheral smear revealed mild hypochromia and anisocytosis with few target cells and crenated red blood cells. Mantoux test was negative and chest x-ray did not reveal any abnormality. Sickling test was negative. Venereal Disease Research Laboratory (VDRL) in serum was positive in a dilution of 1:128. Treponema pallidum haemagglutination test (TPHA) was positive. X-rays of the hand revealed multiple lytic areas in the phalanges of both hands. X-ray legs revealed peri-ostitis in both femur and tibia with no evidence of metaphysitis. Cerebrospinal fluid (CSF) did not reveal any abnormality, VDRL in CSF was negative. VDRL was positive in father (1:128), mother (1:256) and 2-year-old brother (1:128). TPHA was also positive in them. TPHA was negative in elder sister and the other brother though VDRL was positive in 1:4 dilution. ELISA for HIV was negative in both father and mother.
Treatment — The child was treated with crystalline penicillin for a period of ten days.
Follow-up — Swelling in the hands subsided and the child was asymptomatic on follow-up.

Discussion

Congenital syphilis has varied manifestations with up to 50% being asymptomatic at birth4. These newborns may develop symptoms of congenital syphilis by 2 years of age4,5. Hence according CDC surveillance case definition 1988, a presumptive case of congenital syphilis includes any symptomatic infant and any infant whose mother was suspected to have syphilis during pregnancy but did not take treatment or was inadequately treated regardless of finding in the infant6. Surveillance requires serological tests and hence there lies importance in diagnosis.
VDRL test is a non-treponemal test used to test antibodies to cardiolipin. It is the most widely used screening test with biological false positive results in 1-2% of sera tested7. If infant’s titres in the serum is more than mother’s then infant is sure to have congenital syphilis. But a lower titre in the infant’s serum than in the mother’s does not rule out congenital syphilis. In one study8 only 22% cases of congenital syphilis in the infants had a titre higher than mothers. In the present case infant’s titre was 1:128 and the mother’s was 1:256 but the infant had manifestations of congenital syphilis.
TPHA detects antibodies specific to pathogenic treponemas. It is the first specific test used for routine screening7. It has a sensitivity of 64-87% in primary5. In this case of congenital syphilis TPHA was positive in the child, both parents and one sibling who had signs and symptoms of syphilis. It was negative in elder sister and brother in whom VDRL was positive which further collaborates false positive VDRL. Though VDRL alone is a good enough test for diagnosis, if facilities are available TPHA should be carried out.
Congenital syphilis has early and late manifestations. Early manifestations are hepatosplenomegaly, lymphadenopathy, mucocutaneous lesions, skeletal lesions and lesions of central nervous system seen between 2 and 10 weeks of age.Late manifestations are seen after 2 years of age as a hypersensitivity reaction (Clutton’s joints) or as stigmata of congenital syphilis eg, Hutchinson’s teeth. Here in this report the child had only skeletal lesions and none of the manifestations as mentioned above. Among the skeletal manifestions common lesions are osteochondritis or metaphysitis which appear within a month involving mainly the long bones of both limbs. These changes are present in 50-95% of cases9. Mild periosteal reaction was seen only in lower limb bones in this case. There was no evidence of metaphysitis. This child presented with painless swelling of fingers and toes as usually reported in syphilis. Lytic lesions were seen on x-rays. Usually in syphilis such lesions are associated with periosteal new bone formation which helps them to be distinguished from lesions of tuberculosis9. In this case there was no evidence of periosteal reaction. Serological and clinical evidence of syphilis in the form of involvement of other family members confirmed the diagnosis.

Reference

1 Centers for Disease Control — Epidemic of congenital syphilis–Baltimore 1996-1997. MMWR CDC Surveill Summ 1998; 47: 904.
2 Mascola L, Pelosi R, Blount JH, Binkin NJ, Alexender CE, Cates W Jr — Congenital syphilis: why is it still occurring? JAMA 1984; 252: 1719-22.
3 Malik A, Kumari S, Singh S — Congenital syphilis: a reappraisal. Indian Pediatr 1993; 30: 559-66.
4 Kaufman RE, Jones OG, Blount JH, Weisner PJ — Questionnaire survey of reported early congenital syphilis, problems in diagnosis, prevention and treatment. Sex Transm Dis 1977; 4: 135-9.
5 Lukehart SA, Holmes KK — Syphilis. In: Fauci AS, Braunwald E, Isselbacher KJ, et al, editors. Harrison’s Principles of Internal Medicine. Vol 1. 14th ed. New York: McGraw-Hill, 1998: 1023-33.
6 Centres for Disease Control — Guidelines for prevention and control of congenital syphilis. MMWR Morb Mortal Wkly Rep 1988; 37: 1-17.
7 Young H, Penn C — Syphilis and related treponematoses. In: Simth GR, Easman CF, editors. Topley and Wilson’s Principle of Bacteriology, Virology and Immunity. Vol 3. 8th ed. London: Arnold, 1987: 588-99.
8 Stoll BJ, Lee FK, Larsen SA, Hale E, Scwartz D, Rice RJ, et al — Improved serodiagnosis of congenital syphilis with combined assay approach. J Infect Dis 1993; 167: 1093-9.
9 Sacheder M, Bery K, Chawala S — Osseous manifestations in syphilis: a study of 25 cases. Clin Radiol 1982; 33: 319-23.

 

Department of Paediatrics, University College of Medical Sciences and Guru Tegh Bahadur Hospital, New Delhi 110095
*MD (Paediatr), Lecturer
**DCH, MD (Paediatr), DNB, FIAP, Professor
***MD (Paediatr), Specialist of Paediatrics, Oil and Natural Gas Corporation, Dehradun 248001

 

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