A 3-day old newborn boy delivered vaginally at 37 weeks’ gestation presents to the emergency department with difficulty feeding, lethargy, and generalized convulsions. The pregnancy was uneventful, and Apgar scores were 8 and 9 at 1 and 5 minutes, respectively. Vital signs are within normal limits. He is at the 5th percentile for height, 5th percentile for weight, and 95th percentile for head circumference. Physical examination shows skin purpura, posterior uveitis on ocular exam, and poor hearing. Cranial ultrasonography is performed and shows ventricular dilatation with diffuse intracranial calcifications.
Which of the following is the most likely diagnosis?
- A) Congenital cytomegalovirus
- B) Congenitial rubella
- C) Congenital syphilis
- D) Congenital toxoplasmosis
- E) Idiopathic hearing loss
D) Congenital toxoplasmosis
This patient's presentation is most consistent with congenital toxoplasmosis, which commonly presents with diffuse intracranial calcifications, chorioretinitis, sensorineural hearing loss, and signs of hydrocephalus. Other signs pointing to congenital toxoplasmosis include purpura, jaundice, and seizures. Transmission to the mother most commonly occurs from oocytes found in cat feces and uncooked meat. Pregnant women are advised to avoid cats as much as possible. Transmission to the newborn occurs transplacentally from the infected mother. Treatment includes a combination of pyrimethamine, sulfadiazine, and leucovorin.
Answer choice A: Congenital cytomegalovirus, is incorrect. The diagnosis of congenital cytomegalovirus often begins in utero. Findings in the symptomatic neonate include petechiae, jaundice, hepatosplenomegaly, small size for gestational age, microcephaly, sensorineural hearing loss, lethargy, seizures, chorioretinitis, and hemolytic anemia.
Answer choice B: Congenital rubella, is incorrect. Congenital rubella may lead to fetal death in utero, preterm delivery, or congenital defects which usually are asymptomatic at birth and develop over time. Findings include fetal growth restriction, sensorineural hearing loss, congenital heart disease, central nervous system involvement, eye disease, and many other findings such as petechiae, purpura, jaundice, hemolytic anemia, and thrombocytopenia.
Answer choice C: Congenital syphilis, is incorrect. Congenital syphilis is defined by clinical manifestations with onset before 2 years of age. In symptomatic infants, common findings include jaundice, hepatomegaly, nasal discharge, rash, generalized lymphadenopathy, and skeletal abnormalities.
Answer choice E: Idiopathic hearing loss, is incorrect. The spectrum of other findings in this infant suggest a more generalized process which would rule out idiopathic hearing loss.
Key Learning Point
Congenital toxoplasmosis typically presents with diffuse intracranial calcifications, chorioretinitis, sensorineural hearing loss, and signs of hydrocephalus. Other signs include purpura, jaundice, and seizures.