Asymptomatic macrocephaly: to scan or not to scan

Macrocephaly is a common finding in infants and is often idiopathic or familial. In the absence of clinical signs and symptoms, it can be difficult to determine when concern for underlying pathology is justified.

The objectives of this study were to determine the utility of screening head ultrasound (US) in asymptomatic infants with macrocephaly and to identify clinical factors associated with significant US findings.

A 20-year retrospective review was performed of infants undergoing head US for macrocephaly or rapidly increasing head circumference. Data collected included age, gender, head circumference at birth and at the time of US, specialty of the ordering physician, US findings, computed tomography (CT) or magnetic resonance imaging (MRI) findings, and clinical course including interventions.

Four hundred and forty infants met inclusion criteria. Two hundred and eighty studies (64%) were found to be normal, 137 (31%) had incidental findings, 17 (3.8%) had indeterminate but potentially significant findings, and 6 (1.4%) had significant findings. Twenty of the 23 infants with indeterminate or significant findings had subsequent CT or MRI. This confirmed significant findings in eight infants (1.8%): three subdural hematomas, two intracranial tumors, two aqueductal stenoses, and one middle fossa cyst. Five of the eight infants required surgical procedures. The only statistically significant association found with having a significant finding on head US was head circumference at birth.

Ultrasound is a useful initial study to evaluate infantile macrocephaly, identifying several treatable causes in our study and, when negative, effectively excluding significant pathology.