Diagnostic tests for child with microcephaly
A head computed tomography (CT) scan allows assessment of the skull (for premature closure of the sutures) and also surveys for abnormal calcification (which may indicate infection with a toxoplasmosis, other agents, rubella, cytomegalovirus, herpes simplex [TORCH] agent, or earlier hypoxic-ischemic injury).
A magnetic resonance imaging (MRI) scan gives greater anatomic detail of the brain parenchyma.
In a neonate, TORCH titers may be measured if such an infection is suspected, and a chromosomal analysis—particularly a chromosomal microarray or targeted gene analysis depending on clinical suspicion—may be used to evaluate genetic causes.
A basic metabolic screen (serum amino acids, urine organic acids, ammonia, and lactate) could be considered as well.
