Clinical scenario: Infant | Microcephaly | seizures | Intracranial calcification
A 3-month-old infant is evaluated for poor visual tracking and failure to achieve social smile. He was born at 38 weeks’ gestation with a birth weight of 2.2 kg. Examination reveals microcephaly, generalized hypertonia, and bilateral sensorineural hearing loss.
CT brain demonstrates multiple periventricular intracranial calcifications with ventriculomegaly.
Which of the following is the most likely diagnosis?
A. Congenital cytomegalovirus infection
B. Congenital toxoplasmosis
C. Congenital rubella syndrome
D. Sturge-Weber syndrome
E. Tuberous sclerosis complex
Correct answer & Explanation:
Correct Answer: A. Congenital cytomegalovirus infection
Explanation:
This infant has the classical features of congenital cytomegalovirus (CMV) infection.
The key diagnostic clues are:
- Periventricular intracranial calcifications (hallmark finding)
- Microcephaly
- Sensorineural hearing loss
- Developmental delay
- Ventriculomegaly
Congenital CMV is the most common congenital infection and the leading non-genetic cause of sensorineural hearing loss.
Why the other options are incorrect
- A. Congenital CMV – Correct. Characteristic periventricular calcifications with hearing loss and microcephaly.
- B. Congenital toxoplasmosis – Incorrect. Classically causes diffuse intracranial calcifications, hydrocephalus, and chorioretinitis.
- C. Congenital rubella – Incorrect. Associated with cataracts, congenital heart disease, and hearing loss, but not characteristic intracranial calcifications.
- D. Sturge-Weber syndrome – Incorrect. Produces gyriform (“tram-track”) cortical calcifications with a facial port-wine stain.
- E. Tuberous sclerosis complex – Incorrect. Shows subependymal nodules and cortical tubers that may calcify, usually with seizures and hypomelanotic macules.
