Congenital syphilis is a worldwide public health concern. This occurs when an infected mother transmits the infection to the fetus during pregnancy or at birth.

We present a case of a 6-day-old male, term, born to a mother with secondary syphilis, via normal spontaneous delivery. Upon birth, patient was well and not in cardiorespiratory distress. However, cutaneous examination revealed multiple, well-defined vesicles and pustules on an erythematous background, some topped with erosions and crusts on the scalp, face, extremities, and trunk. Laboratory work-up and imaging were done which revealed congenital syphilis. He was managed with intravenous Penicillin (100,000iu) 160,000 IV for ten days, and wound healing was hastened by use of a coconut-based cellulose wound dressing on the erosions. He was then referred to a multispecialty team to assess and co-manage possible complications. Regular interval follow-up and repeat laboratory tests were advised for observation and for monitoring.

Congenital syphilis is caused by the bacterium Treponema pallidum. Sequelae include preterm birth, low birth weight, skin lesions, bone deformities, hepatosplenomegaly, anemia, and neurological problems. Diagnosis can be made on clinical suspicion combined with Rapid Plasma Reagin (RPR) and Venereal Disease Research Laboratory (VDRL). Aside from Penicillin G, wound care, nutritional build up, and close monitoring of growth and development with regular follow-ups are essential aspects in the management of congenital syphilis. With timely and adequate treatment, infants have a higher likelihood of complete resolution of symptoms, prevention of long-term complications, and improved overall health outcomes.

Objective: To analyze the association between different treatment timings and adverse neonatal outcomes (premature birth, death, congenital syphilis) in syphilis-infected pregnant women. Methods: The National Management Information System for Prevention of HIV, Syphilis and HBV Mother-to-Child Transmission was used to collect information on the detection and treatment of syphilis-infected pregnant women and their newborns in Guangdong Province from October 2011 to December 2021. According to the gestational weeks of syphilis-infected pregnant women receiving penicillin treatment for the first time, they were divided into four groups: treatment in the first trimester, treatment in the second trimester, treatment in the third trimester, and no treatment during pregnancy. Multivariate logistic regression was used to analyze the association between different treatment timings and adverse neonatal outcomes in syphilis-infected pregnant women. Results: A total of 22 483 syphilis-infected pregnant women were included. The number of pregnant women who started treatment in the first trimester, second trimester, and third trimester and did not receive treatment during pregnancy were 4 549 (20.23%), 8 719 (38.78%), 2 235 (9.94%) and 6 980 (31.05%), respectively. Compared with pregnant women who started treatment in the first trimester, pregnant women who did not receive anti-syphilis treatment during pregnancy had increased risks of neonatal preterm birth (OR=1.42, 95%CI: 1.24-1.62), death (OR=4.27, 95%CI: 1.64-14.69) and congenital syphilis (OR=12.26, 95%CI: 6.35-27.45). At the same time, the risk of congenital syphilis in the newborns of pregnant women who started anti-syphilis treatment in the second trimester (OR=2.68, 95%CI: 1.34-6.16) and third trimester (OR=6.27, 95%CI: 2.99-14.80) also increased. Conclusion: Early initiation of anti-syphilis treatment during pregnancy in patients with syphilis can improve neonatal outcomes.
Pregnancy ; Female ; Infant, Newborn ; Humans ; Pregnant Women ; Syphilis/diagnosis* ; Pregnancy Complications, Infectious/drug therapy* ; Syphilis, Congenital/drug therapy* ; Premature Birth ; Infectious Disease Transmission, Vertical/prevention & control*

We report two infants with neonatal cholestasis and hepatosplenomegaly secondary to congenital syphilis. The onset of jaundice of the first infant was at six weeks of life and the second case on the 28th hour of life with associated neurologic and bone involvement. The diagnosis was suspected based on a maternal history of untreated syphilis, clinical findings, and a reactive rapid plasma reagin. Early recognition and treatment can lead to clinical improvement but prevention by mandatory testing and treatment of maternal syphilis is a more effective strategy
Congenital syphilis ; neonatal cholestasis

Objective: To analyze the association between different treatment timings and adverse neonatal outcomes (premature birth, death, congenital syphilis) in syphilis-infected pregnant women. Methods: The National Management Information System for Prevention of HIV, Syphilis and HBV Mother-to-Child Transmission was used to collect information on the detection and treatment of syphilis-infected pregnant women and their newborns in Guangdong Province from October 2011 to December 2021. According to the gestational weeks of syphilis-infected pregnant women receiving penicillin treatment for the first time, they were divided into four groups: treatment in the first trimester, treatment in the second trimester, treatment in the third trimester, and no treatment during pregnancy. Multivariate logistic regression was used to analyze the association between different treatment timings and adverse neonatal outcomes in syphilis-infected pregnant women. Results: A total of 22 483 syphilis-infected pregnant women were included. The number of pregnant women who started treatment in the first trimester, second trimester, and third trimester and did not receive treatment during pregnancy were 4 549 (20.23%), 8 719 (38.78%), 2 235 (9.94%) and 6 980 (31.05%), respectively. Compared with pregnant women who started treatment in the first trimester, pregnant women who did not receive anti-syphilis treatment during pregnancy had increased risks of neonatal preterm birth (OR=1.42, 95%CI: 1.24-1.62), death (OR=4.27, 95%CI: 1.64-14.69) and congenital syphilis (OR=12.26, 95%CI: 6.35-27.45). At the same time, the risk of congenital syphilis in the newborns of pregnant women who started anti-syphilis treatment in the second trimester (OR=2.68, 95%CI: 1.34-6.16) and third trimester (OR=6.27, 95%CI: 2.99-14.80) also increased. Conclusion: Early initiation of anti-syphilis treatment during pregnancy in patients with syphilis can improve neonatal outcomes.
Pregnancy ; Female ; Infant, Newborn ; Humans ; Pregnant Women ; Syphilis/diagnosis* ; Pregnancy Complications, Infectious/drug therapy* ; Syphilis, Congenital/drug therapy* ; Premature Birth ; Infectious Disease Transmission, Vertical/prevention & control*

Death ; Hematoma, Subdural/etiology* ; Humans ; Syphilis, Congenital/complications*

PURPOSE: The goal of this study was the early diagnosis of ABCB11 spectrum liver disorders, especially those focused on benign recurrent intrahepatic cholestasis and progressive familial intrahepatic cholestasis. METHODS: Fifty patients presenting neonatal cholestasis were evaluated to identify underlying etiologies. Genetic analysis was performed on patients suspected to have syndromic diseases or ABCB11 spectrum liver disorders. Two families with proven ABCB11 spectrum liver disorders were subjected to genetic analyses to confirm the diagnosis and were provided genetic counseling. Whole exome sequencing and Sanger sequencing were performed on the patients and the family members. RESULTS: Idiopathic or viral hepatitis was diagnosed in 34%, metabolic disease in 20%, total parenteral nutrition induced cholestasis in 16%, extrahepatic biliary atresia in 14%, genetic disease in 10%, neonatal lupus in 2%, congenital syphilis in 2%, and choledochal cyst in 2% of the patients. The patient with progressive familial intrahepatic cholestasis had novel heterozygous mutations of ABCB11 c.11C>G (p.Ser4*) and c.1543A>G (p.Asn515Asp). The patient with benign recurrent intrahepatic cholestasis had homozygous mutations of ABCB11 c.1331T>C (p.Val444Ala) and heterozygous, c.3084A>G (p.Ala1028Ala). Genetic confirmation of ABCB11 spectrum liver disorder led to early liver transplantation in the progressive familial intrahepatic cholestasis patient. In addition, the atypically severe benign recurrent intrahepatic cholestasis patient was able to avoid unnecessary liver transplantation after genetic analysis. CONCLUSION: ABCB11 spectrum liver disorders can be clinically indistinguishable as they share similar characteristics related to acute episodes. A comprehensive genetic analysis will facilitate optimal diagnosis and treatment.
Biliary Atresia ; Choledochal Cyst ; Cholestasis ; Cholestasis, Intrahepatic ; Diagnosis ; Early Diagnosis* ; Exome ; Genetic Counseling ; Hepatitis ; High-Throughput Nucleotide Sequencing ; Humans ; Hyperbilirubinemia ; Jaundice ; Liver Transplantation ; Liver* ; Metabolic Diseases ; Parenteral Nutrition, Total ; Syphilis, Congenital

Syphilis infection has re-emerged after years of declining incidence. The prevalence of congenital syphilis (CS) has increased in Korea and other countries during the last few decades. Untreated infants develop symptoms such as rhinorrhea, anemia, jaundice, cutaneous lesions, hepatosplenomegaly, and pseudoparalysis within weeks or months. Significant renal disease is uncommon in CS, and clinical renal involvement varies from mild transient proteinuria to frank nephrosis. We report a 2-month-old infant with CS who presented with only nephrotic syndrome (NS). The previously healthy infant presented with NS and showed no other syphilitic manifestations. Remission of the NS was achieved with adequate penicillin treatment. No recurrence of proteinuria was observed during the 1 year of follow-up. Although rare, this long forgotten disease continues to affect pregnant women, resulting in prenatal or postnatal mortality. We still consider the possibility of syphilitic nephropathy and therefore serologic testing for congenital NS.
Anemia ; Female ; Follow-Up Studies ; Humans ; Incidence ; Infant ; Jaundice ; Korea ; Mortality ; Nephrosis ; Nephrotic Syndrome* ; Penicillins ; Pregnant Women ; Prevalence ; Proteinuria ; Recurrence ; Serologic Tests ; Syphilis ; Syphilis, Congenital*

Although congenital syphilis can be prevented with prenatal screening, the disease remains problematic. Currently, there are no cases that describe hematuria and pneumonia related to congenital syphilis. We report a case of congenital syphilis that involved nephrotic syndrome and pneumonia alba in a 22-day-old male infant whose mother did not receive adequate prenatal care. The congenital syphilis diagnosis was confirmed with a serologic test and the patient recovered with penicillin treatment. Clinical findings may be subtle in neonates and delayed recognition occurs frequently, thus complete prenatal screening is critical for congenital syphilis prevention. Immediate serologic testing should be performed to obtain a differential diagnosis if an infant is delivered by a mother that has not received appropriate prenatal examinations.
Diagnosis ; Diagnosis, Differential ; Exanthema* ; Hematuria* ; Humans ; Infant ; Infant, Newborn ; Male ; Mothers ; Nephrotic Syndrome ; Penicillins ; Pneumonia* ; Prenatal Care ; Prenatal Diagnosis ; Serologic Tests ; Syphilis, Congenital*

Biomarkers ; analysis ; Delayed Diagnosis ; Diagnosis, Differential ; Female ; Humans ; Infant, Newborn ; Liver Diseases ; diagnosis ; drug therapy ; etiology ; Liver Function Tests ; Nephrotic Syndrome ; diagnosis ; drug therapy ; etiology ; Penicillin G ; administration & dosage ; therapeutic use ; Skin Diseases ; diagnosis ; drug therapy ; etiology ; Syphilis, Congenital ; complications ; diagnosis ; drug therapy

Congenital syphilis is a rare disease nowadays because of prenatal screening test and early treatment. In the absence of proper maternal therapy, infection can result in stillbirth, prematurity, or a wide spectrum of clinical manifestations involving multiple organ systems. We took care of a preterm infant with apnea, desquamation on the palms of hands and thrombocytopenia at birth, and the serologic tests revealed congenital syphilis. We present a fatal case of early congenital syphilis of preterm newborn delivered by an untreated mother, with a brief review of literature.
Apnea ; Hand ; Humans ; Infant, Newborn ; Infant, Premature ; Mothers ; Parturition ; Prenatal Care ; Prenatal Diagnosis ; Rare Diseases ; Serologic Tests ; Stillbirth ; Syphilis, Congenital ; Thrombocytopenia