Review Question - QID 221294

This patient was born to a mother who did not receive prenatal care and experienced transient arthralgia with fever in her first trimester, which is concerning for a congenital rubella infection. This syndrome presents with low birth weight, diffuse blueberry muffin macules, bilateral cataracts, continuous patent ductus arteriosus murmur, and sensorineural hearing loss.

Congenital rubella syndrome is one of the congenital TORCHeS infections, which also include Toxoplasma gondii, Rubella, Cytomegalovirus, Human immunodeficiency virus (HIV), Herpes simplex virus (HSV), and syphilis. It is a result of gestational transplacental transmission of the rubella virus, most often during the first trimester. The initial maternal infection is transient and self-resolving, presenting as a mild fever, maculopapular rash, posterior auricular lymphadenopathy, and polyarthralgia. As the first trimester is a critical period for fetal organogenesis and growth, the virus can have devastating effects leading to low birth weight, destruction of the ocular lenses resulting in cataracts, and organ dysgenesis. The viral infection of vascular endothelium can also lead to a patent ductus arteriosus, encephalitis, and sensorineural hearing loss. Prognosis depends on the severity of defects, which are managed supportively. Prevention involves prenatal counseling to screen for maternal rubella immune status and vaccination.

Swamy et al. review recommendations for vaccinations for maternal-fetal protection. They discuss how the measles, mumps, and rubella (MMR) vaccine is a live vaccine and is not recommended during pregnancy. They recommend against abortion if the MMR vaccine is inadvertently administered during pregnancy as large databases have not shown detrimental fetal effects.

Figure/Illustration A shows diffuse purple macules, papules, nodules, and petechia representing a classic blueberry muffin rash (red circle). This finding is observed in congenital rubella, Toxoplasma gondii, and CMV infections.

Incorrect Answers:
Answer 1: Hydrocephalus is a classic feature of congenital Toxoplasma gondii infection, due to parasite obstruction of cerebrospinal fluid flow. Newborns with congenital rubella syndrome may have microcephaly. Other symptoms include chorioretinitis and jaundice.

Answer 2: Intracranial calcifications are a classic radiographic feature of congenital Toxoplasma gondii infection due to parasitic cyst deposition in the brain parenchyma. These calcifications are not observed in congenital rubella syndrome. Other symptoms include chorioretinitis and jaundice.

Answer 3: Notched teeth, also known as Hutchinson teeth, are a classic feature of congenital syphilis infection and are not found in congenital rubella syndrome. Other congenital syphilis features include nasal discharge, short maxilla, bowed tibias, and a saddle nose.

Answer 4: Periventricular calcifications are a classic radiographic finding in congenital CMV infection, often accompanied by ventriculomegaly, a feature not observed in congenital rubella syndrome. Other symptoms include anemia and hearing loss.

Bullet Summary:
Congenital rubella syndrome presents with low birth weight, diffuse blueberry muffin rash, continuous patent ductus arteriosus murmur, and sensorineural hearing loss.