Symptomatic congenital syphilis presenting at birth

Area of Science:

• Neonatal Medicine
• Pediatric Infectious Diseases
• Medical Case Reports

Background:

• Congenital syphilis is a serious infection transmitted from mother to infant during pregnancy or birth.
• Early diagnosis and treatment are crucial to prevent severe long-term complications in newborns.
• Typical presentations often include specific dermatological or neurological signs, but variability exists.

Observation:

• A newborn infant presented at birth with symptoms suggestive of congenital syphilis.
• Uncommon clinical features were observed, including negative infant Venereal Disease Research Laboratory (VDRL) test results.
• The infant exhibited pseudoparesis and significant joint swellings (arthritis).

Findings:

• The neonate displayed florid skeletal involvement, a rare finding in the early neonatal period.
• Despite negative infant VDRL results, clinical signs pointed towards congenital syphilis.
• The constellation of symptoms, particularly arthritis and skeletal abnormalities, was atypical for early-onset disease.

Implications:

• This case underscores the diagnostic challenges posed by congenital syphilis, often termed the "master masquerader".
• Healthcare providers should maintain a high index of suspicion for congenital syphilis even with atypical or negative initial testing.
• Recognizing varied presentations is essential for timely diagnosis and intervention in affected newborns.