Not Everything That Shines on CT Scan is TORCH!

Excerpt

The authors report a 4-mo-old girl born at term to a third-degree consanguineous couple with no adverse perinatal events. The baby had microcephaly at birth (Head circumference at -3.27 Z score, WHO Child Growth Standards), with history of excessive irritability and limb tightness since 2 mo of age. There was a similar history in two male siblings (II1, II2) who died as infants, but no documents were available. Magnetic resonance imaging (MRI) of the brain and non-contrast computed tomography (CT) of the head revealed multiple calcification foci (Fig. 1). Clinical exome sequencing revealed a previously reported pathogenic homozygous truncating variant (c.223dup) in TREX1 gene (ENST00000422277) [1].

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