The infant in the following picture presents with hepatosplenomegaly

The infant in the following picture presents with hepatosplenomegaly, anemia, persistent rhinitis, and a maculopapular rash. Which of the following is the most likely diagnosis for this child ?


  1. Toxoplasmosis
  2. Glycogen storage disease
  3. Congenital hypothyroidism
  4. Congenital syphilis
  5. Cytomegalovirus disease

View Explanation

The clinical presentation of congenital syphilis is varied. Many newborns appear normal at birth and continue to be asymptomatic for the first few weeks or months of life. Most untreated infants will develop skin lesions, the usual one being an 104 Pediatrics infiltrative, maculopapular peeling rash that is most prominent on the face, palms, and soles. Involvement of the nasal mucous membranes causes rhinitis with a resultant serous, and occasionally purulent, blood-tinged discharge (snuffles). This, as well as scrapings from the skin lesions, contains abundant viable treponemes. Hepatosplenomegaly and lymphadenopathy are common, and early jaundice is a manifestation of syphilitic hepatitis. Liver function tests are elevated; hemolytic anemia and thrombocytopenia are common. Infants may have a saddle nose, a result of destruction of bone from syphilitic rhinitis. Among the later manifestations, or stigmata, of congenital syphilis is interstitial keratitis, which is an acute inflammation of the cornea that begins in early childhood (most commonly between 6 and 14 years of age). Interstitial keratitis represents the response of the tissue to earlier sensitization. Findings include marked photophobia, lacrimation, corneal haziness, and eventual scarring. Hutchinson teeth (peg or barrel-shaped upper central incisors), abnormal enamel, and mulberry molars (first lower molars with an abnormal number of cusps) are dental manifestations of syphilis.