Incidental Radiologic Findings in the 22q11.2 Deletion Syndrome

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Fig 1.
High prevalence of cavum septum pellucidum et vergae in 22q11DS. A, Triplanar view centered on the lateral ventricles in a subject with CSP et vergae. B, Single representative axial sections from 10 other subjects with this finding.
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Fig 2.
Incidental findings in 11 representative individuals with 22q11DS. Other than CSP, white matter abnormalities (A) were the most common finding. Scattered WM hypointensities were most frequent, with 1 subject having a nonspecific cyst in the periventricular WM (arrow). Vascular abnormalities (B) were seen in 8.6% of the population and included an absent left ICA flow void (arrowhead) with a CSP also noted, asymmetries in the ICA (solid arrows), and absence of a right vertebral flow void (dotted arrow). Pineal cysts (C) were also seen. A single subject had a known right posterior infarct (D).
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Fig 3.
Proportion of incidental findings in 22q11DS split by psychiatric diagnosis.

Table 1:

Demographic differences in 22q11DS with and without incidental findings

Table 2:

Frequency of incidental findings in 21q11DS

Finding	Count	Prevalence
Pineal cyst	2	2.58%
Other cysts	0	0%
Cavum septum pellucidum	11	19.0%
Ventricular abnormalities	5	8.62%
Other CSF abnormalities	1	1.72%
Vascular abnormalities	5	8.62%
Cerebellar abnormalities	0	0%
White matter abnormalities	6	10.34%
Subcortical	2	3.45%
All subjects with incidental findings	27	46.6%

Table 3:

Comparison in incidental findings between subjects with 22q11DS and typically developing (PNC) sample

Note:—VCFS indicates velocardiofacial syndrome.
↵a Previously reported as 10.57%, with WM and subcortical abnormalities included in the current analyses.