Intracranial Calcifications Discovered During Prolonged New Seizure
Am Fam Physician. 2018 Jun 1;97(11):753-754.
An eight-month-old infant presented to the emergency department with a prolonged episode of left upper and lower extremity shaking and eye deviation. The day before, he had developed nasal congestion and a cough but no fever. The infant was delivered at term, and had thrombocytopenia with facial and chest petechiae at birth that improved without intervention. He was developmentally delayed and unable to sit without support, although he could roll over. The remainder of his medical history was unremarkable.
On physical examination, he was febrile (101.9°F [38.8°C]) and drowsy but nontoxic in appearance. He had diffuse hypotonia, diminished patellar deep tendon reflexes, truncal instability, and head lag. There was no rash. Complete blood count and chemistry panel findings were normal, except for hyponatremia (sodium level of 133 mEq per L [133 mmol per L]). Computed tomography of the head showed periventricular calcifications but no hydrocephalus (Figure 1).
Based on the patient's history, physical examination, and imaging findings, which one of the following is the most likely diagnosis?
A. Aicardi-Goutières syndrome.
B. Congenital cytomegalovirus infection.
C. Congenital lymphocytic choriomeningitis virus infection.
D. Congenital toxoplasmosis.
The answer is B: congenital cytomegalovirus (CMV) infection. The differential diagnosis for intracranial calcifications is broad. Calcifications associated with congenital CMV infection are predominantly periventricular because of germinal matrix damage, which leads to white matter atrophy, ventriculomegaly, and neuronal migration anomalies.1–3 Occuring in 0.2% to 2.0% of pregnancies, CMV infection is the most common congenital infection in the United States.4 Congenital CMV is acquired by transplacental passage of the virus, through the genital tract at birth, or by ingesting infected human milk. Only 10% of neonates with congenital CMV infection are symptomatic at birth, but possible symptoms include petechiae, purpura, jaundice, hepatosplenomegaly, intrauterine growth restriction, microcephaly, seizures, retinitis, thrombocytopenia, developmental delay, or hypotonia.5
Congenital CMV infection is confirmed with culture or polymerase chain reaction testing that is positive for the virus in body fluids,
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7. Kimberlin DW, Jester PM, Sánchez PJ, et al. Valganciclovir for symptomatic congenital cytomegalovirus disease. N Engl J Med. 2015;372(10):933–943.
8. Adam MP, Ardinger HH, Pagon RA, Wallace SE, eds. GeneReviews. Seattle, Wash.: University of Washington; 2005. https://www.ncbi.nlm.nih.gov/books/NBK1475/. Accessed March 1, 2018.
9. Wright R, Johnson D, Neumann M, et al. Congenital lymphocytic choriomeningitis virus syndrome. Pediatrics. 1997;100(1):1–6. http://pediatrics.aappublications.org/content/100/1/e9.long. Accessed March 1, 2018.
This series is coordinated by John E. Delzell Jr., MD, MSPH, Associate Medical Editor.
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