Diagnostic tests for child with microcephaly

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.


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