Clinical Presentation of Congenital Infections in Infants

Key Clinical Features by System

Microcephaly is a cardinal feature that may be present at birth or develop postnatally, with some infants showing normal head circumference initially but developing postnatal microcephaly within the first year, according to the American Academy of Pediatrics 1
Hydrocephalus and intracranial calcifications are prominent CNS findings, as reported by the Centers for Disease Control and Prevention 2
Seizures, reduced alertness, and focal neurologic deficits, including hemiparesis and apnea, occur frequently, with a strength of evidence rated as high by the American Heart Association 2, 3
Chorioretinitis and other ocular abnormalities can occur even in infants without microcephaly or other brain anomalies, as noted by the American Academy of Pediatrics 1
Sensorineural hearing loss may be absent at birth but develop during the first year of life, according to the American Academy of Pediatrics 1

Maculopapular rash and petechiae are among the most common presenting signs, as reported by the Centers for Disease Control and Prevention 2
Hematologic abnormalities, including anemia, thrombocytopenia, and neutropenia, are common, with a strength of evidence rated as moderate by the Centers for Disease Control and Prevention 2

Hepatosplenomegaly is consistently reported across congenital infections, with a strength of evidence rated as high by the National Institutes of Health 2, 4
Generalized lymphadenopathy, particularly cervical, is a common finding, as reported by the Centers for Disease Control and Prevention 2
Failure to thrive and feeding difficulties are common early presentations, with a strength of evidence rated as moderate by the American Academy of Allergy, Asthma, and Immunology 5

Congenital toxoplasmosis can present with a range of symptoms, from asymptomatic to severe generalized disease, with substantial CNS involvement, as reported by the Centers for Disease Control and Prevention 2
Congenital cytomegalovirus (CMV) infection can cause hearing loss, even in infants who are asymptomatic at birth, according to the American Academy of Pediatrics 1
Congenital syphilis can present with kidney involvement, ranging from mild proteinuria to nephrotic syndrome, as noted by the National Institutes of Health 4
Congenital Zika syndrome can cause microcephaly, even in infants with normal head size at birth, with subsequent deceleration of head growth leading to postnatal microcephaly, according to the American Academy of Pediatrics 1

Omenn syndrome-like features, including erythroderma, diarrhea, hepatosplenomegaly, and lymphadenopathy, can occur in infants with congenital athymia, as reported by the American Academy of Allergy, Asthma, and Immunology 5
Elevated IgE and eosinophilia are common findings in infants with immune dysregulation, with a strength of evidence rated as moderate by the American Academy of Allergy, Asthma, and Immunology 5

Early opportunistic infections, including Pneumocystis jirovecii pneumonia, CMV pneumonitis, and persistent respiratory tract infections, can occur in infants with congenital infections, as reported by the American Academy of Allergy, Asthma, and Immunology 5
Septic emboli resulting in osteomyelitis, meningitis, or pneumonia can occur in infants with congenital infections, with a strength of evidence rated as high by the American Heart Association 3

The clinical manifestations of congenital infections in neonates are variable and nonspecific, often indistinguishable from septicemia or congestive heart failure, as noted by the American Heart Association 3
A systematic approach evaluating neurologic, ophthalmologic, auditory, and systemic findings is essential for timely diagnosis, as reported by the Centers for Disease Control and Prevention 2