Review Question - QID 221274

This infant with a purpuric rash, deafness, hepatosplenomegaly, jaundice, and periventricular calcification most likely has congenital cytomegalovirus infection.

Cytomegalovirus (CMV) is a classic "TORCH" infection that is transmitted via bodily fluids in infected mothers. Prenatal ultrasound may pick up signs that are suggestive of fetal CMV infection, including periventricular calcifications, microcephaly, fetal growth restriction, and cerebral ventriculomegaly. Clinical findings at birth include chorioretinitis, jaundice, small size for gestational age, and blueberry muffin rash. Sensorineural hearing loss is the most common complication of congenital CMV. Prenatal monitoring for this disease and treatment with ganciclovir can prevent vertical transmission in children. Treatment with this medication after birth can also improve outcomes.

Fortin et al. review the evidence regarding outcomes in children born with congenital or perinatal infections. They discuss how, even in the absence of symptoms at birth, children exposed to many infections in utero may be at greater risk for developing neurodevelopmental disorders in childhood. They recommend that congenital infections should be considered in the differential diagnosis of a child with neurodevelopmental challenges.

Figure/Illustration A is a head CT demonstrating periventricular calcifications (red circles). This finding is consistent with congenital CMV infection.

Incorrect Answers:
Answer 2: Congenital rubella infection would also present with low birth weight, a purpuric rash, chorioretinitis, and hydrocephalus; however, other key distinguishing features of congenital rubella infection are lacking, such as cardiac defects and cataracts. This infant’s mother is up-to-date on immunizations, making an intrauterine rubella infection unlikely.

Answer 3: Congenital syphilis infection may present similarly with premature delivery, low birth weight, jaundice, seizures, and chorioretinitis; however, this patient lacks other characteristic findings of congenital syphilis, such as facial abnormalities, including saddle nose and notched teeth, and skeletal deformities such as saber shins.

Answer 4: Congenital toxoplasmosis classically presents with the triad of chorioretinitis, intracranial calcifications, and hydrocephalus. Signs of hydrocephalus include lethargy, vomiting, seizures, enlarged head circumference, and ventriculomegaly. Jaundice, sensorineural hearing loss, low birth weight, hepatosplenomegaly, and a “blueberry muffin rash” may also be seen.

Answer 5: Congenital varicella infection may also present with low birth weight, chorioretinitis, and seizures, but is less likely in this infant born to a mother with up-to-date immunizations.

Bullet Summary:
Congenital cytomegalovirus infection presents with purpuric rash, deafness, hepatosplenomegaly, jaundice, and periventricular calcification.