A newborn is found to have bilateral cataracts, patent ductus arteriosus, and sensorineural deafness. The mother reports a mild febrile illness with a truncal rash during the first trimester of pregnancy. Which additional finding would be MOST consistent with this diagnosis?
- A Periventricular intracranial calcification
- B Blueberry muffin skin lesions ✓
- C Chorioretinitis with hydrocephalus
- D Hepatosplenomegaly with thrombocytopenia from extramedullary hematopoiesis only
Explanation
The classic triad of congenital rubella syndrome is cataract, cardiac defect (especially PDA and peripheral pulmonary stenosis), and sensorineural deafness. Extramedullary hematopoiesis produces the characteristic blueberry muffin rash of dermal erythropoiesis. Periventricular calcification points to CMV or toxoplasmosis, chorioretinitis with hydrocephalus suggests toxoplasmosis, and hepatosplenomegaly alone is nonspecific and does not discriminate.
Reference: Nelson Textbook of Pediatrics, 21st ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.