CliniCian’s Corner
Case 2: A three-month-old
infant with rash and
hepatosplenomegaly
A
three-month-old female infant was evaluated for an evolving
rash. She had been born at term with a birth weight of 3.1 kg.
At one month of age, intermittent low-grade fever of three days’
duration was noted, followed by the development of erythematous
macules over her scalp that spread to her limbs and trunk. The
rash became hyperpigmented after several days. There was no history of nasal snuffling, poor feeding or jaundice. She was referred
to the authors at three months of age.
The pregnancy history was significant for limited prenatal care.
Routine antenatal serological tests for HIV, hepatitis B and syphilis were not performed. Both parents had emigrated from
Indonesia.
On examination, multiple hyperpigmented macules and
patches scattered over the trunk and limbs were present (Figure 1).
There was no involvement of the mucous membranes, palms or
soles. The liver and spleen were palpable 4 cm and 3 cm below the
subcostal margins, respectively, and enlarged cervical lymph nodes
were noted.
Investigations showed a normochromic, normocytic anemia
(hemoglobin 100 g/L), a total white blood cell count of 11.7×109/L
and a platelet count of 618×109/L. Transaminase levels were
approximately five times normal values. HIV, hepatitis A and C
antibodies, hepatitis B antigen and Epstein-Barr virus immunoglobulin M antibodies were not detected.
A further blood test confirmed the diagnosis.
Figure 1) Multiple hyperpigmented macules and patches scattered over
the lower limbs
Correspondence (Case 1): Dr Anya McLaren,The Hospital for Sick Children, Mailbox # 104, Division of Pediatric Medicine, 555 University Avenue,
Toronto, Ontario M5G 1X8. E-mail [email protected]
Correspondence (Case 2): Dr Ng Su Yuen, Institut Pediatrik, Hospital Kuala Lumpur, Jalan Pahang, 50586 Kuala Lumpur, Malaysia.
Telephone 60-1-2554-3049, fax 60-3-2694-8187, e-mail [email protected]
Case 1 accepted for publication April 8, 2013. Case 2 accepted March 21, 2013
Paediatr Child Health Vol 18 No 7 August/September 2013
©2013 Pulsus Group Inc. All rights reserved
353
Clinician’s Corner
CASE 2 DIAGNOSIS: CONGENITAL SYPHILIS
The remainder of the patient’s investigations revealed a positive
Venereal Disease Research Laboratory (VDRL) titre of 1:512, and
the Treponema pallidum hemagglutination assay (TPHA) was positive. This supported a diagnosis of congenital syphilis, and the
patient was started on intravenous crystalline penicillin.
Radiographs of the long bones showed features of periostitis, and
audiological and ophthalmological assessments are pending. Her
mother’s VDRL titre was 1:64.
Congenital syphilis is often a forgotten disease in many
developed countries. There has been a consistent decline in the
incidence of congenital syphilis in the United States from a high
of 4410 cases in 1991 to 353 in 2004, which corresponds to a rate
of 8.8 cases per 100,000 live births (1). However, resurgence of this
disease is occurring in many countries. In developed countries, it
remains an important public health problem that should be managed by improvements in antenatal care and proper treatment of
pregnant women who are infected (1).
Syphilis is a multiorgan disease caused by T pallidum, a Gramnegative bacteria that can cross the placenta and infect the fetus
from 14 weeks’ gestation. The risk of transmission is highest in
mothers with primary syphilis and lowest in mothers with latent
syphilis. Perinatal death occurs in 40% of pregnancies in women
with untreated early syphilis. More than one-half of live-born
neonates with congenital syphilis are well at birth, with signs often
presenting between three and eight weeks of life. The earliest sign
is often a nasal discharge that occurs before the onset of a maculopapular rash (1). Other early stigmata include fever, hepatosplenomegaly, lymphadenopathy, failure to thrive and bone involvement,
especially diaphyseal periostitis or metaphyseal osteochondritis. Less
commonly, central nervous system involvement, pseudoparalysis
and pneumonitis occurs. Late stigmata include lesions of the bone,
cornea, dentition and central nervous system (2).
Skin manifestations are common and occur in 30% to 70% of
infected patients. Characteristic mucocutaneous rashes are erythematous, copper-coloured maculopapular or vesicobullous
lesions, and are followed by desquamation involving the hands and
feet (2). Other rashes include generalized bullous and pustular
eruption, condylomata lata lesions, annular and erythema multiforme-like lesions.
354
Signs and symptoms in congenital syphilis may be subtle, and
confirmation of the diagnosis relies on direct identification of treponemes in clinical specimens or a positive serological test.
Nontreponemal tests for syphilis, such as the VDRL, are positive
in approximately 80% of primary cases and 95% of secondary
cases, and are useful in monitoring the response to treatment.
Specific tests for antibodies to treponema include the TPHA,
which remains positive for life (2). Both our patient and her
mother had positive TPHA and VDRL results. The VDRL titre of
our patient was also fourfold higher than her mother’s and, in the
presence of clinical signs and symptoms, a diagnosis of congenital
syphilis was made with confidence.
Parenteral penicillin G remains the drug of choice in the treatment of congenital syphilis (2). Our patient was treated with
intravenous crystalline penicillin G 50,000 units/kg every 6 h for
14 days. A lumbar puncture is recommended in all infants who
show signs of congenital syphilis or quantitative nontreponemal
titre >4-fold higher than the current maternal titre, as in our
patient, but this was declined by her parents. After treatment,
follow-up with nontreponemal tests is essential. If the titre does
not decrease, retreatment is required (2).
CLINICAL PEArLS
• Presentation of congenital syphilis can range from subtle signs
to fulminating sepsis.
• Skin manifestations are common and may be the only
presenting feature.
• Congenital syphilis is preventable by improving access to
antenatal care and early treatment of infected pregnant women.
rEFErENCES
1. Walker GJ, Walker DJ. Congenital syphilis: A continuing but
neglected problem. Semin Fetal Neonatal Med 2007;12:198-206.
2. Woods CR. Syphilis in children: Congenital and acquired.
Semin Pediatr Infect Dis 2005;16:245-57.
Ng Su Yuen MBBS MRCPch
Heah Sheau Szu MBBS MRCPch
Institut Pediatrik, Hospital Kuala Lumpur
Jalan Pahang
Kuala Lumpur, Malaysia
Paediatr Child Health Vol 18 No 7 August/September 2013