1 - Paediatric Infectious Diseases Department, Hospital Dona Estefânia - Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal
2 - General Paediatric Department, Hospital Dona Estefânia - Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal
3 - Paediatric Haematology Department, Hospital Dona Estefânia - Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal
4 - Imunology Department, Hospital de São José - Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal
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Background: Congenital syphilis is an emergent public health problem. Early diagnosis can be difficult due to its varied and unpredictable manifestations.
Case Presentation Summary: A 3-month-old female infant was referred to our institution due to severe hemolytic anemia and hepatitis. Family history and Pregnancy were unremarkable, with a negative third trimester non treponemal test. Apart from pallor, the mother denied fever, jaundice, bleeding, failure to thrive, or prostration. On admission the infant had a clear nasal discharge and hepatosplenomegaly. Blood work revealed nonimmune hemolytic anemia (Hb 4.4g/dL, reticulocytes 11%, total bilirubin 0,67mg/dL, LDH 508U/L, haptoglobin 158 mg/dL, negative coombs test) and thrombocytopenia (103.000/uL), mildly elevated C reactive protein (23mg/L), and schizocytes on morphology. Syphilis screening revealed a positive non-treponemal RPR test of 1:4 (maternal titer 1:8), but due to a high index of suspicion another sample was analyzed with a RPR titre of 1:1024. The infant’s anti-treponemal IgM antibody was positive and the infant and maternal’s TPHA tests were both reactive, supporting the diagnosis of congenital syphilis. Polymerase chain reaction test for Treponema pallidum was negative on infant’s nasal secretions, blood and CSF. Furthermore, at Day 1 of treatment she developed thoracic vesicular lesions with shedding palmoplantar erythema and long simple x-ray showed bilateral periosteal reaction along the tibial diaphysis. Other infections and hemolytic anemia causes were excluded. The patient completed a 10-day-course of intravenous penicillin G, with a decrease in RPR titer and clinical improvement. Parents also received treatment.
Learning Points/Discussion: Negativity of prenatal screening or postnatal low titers should not exclude the diagnosis of congenital syphilis. Pursuing the diagnosis when there is a high index of suspicion by repeat testing is essential to provide treatment and prevent long-term complications.
Palavras Chave: Congenital syphilis, treatment