Limits...
Incidental radiologic findings in the 22q11.2 deletion syndrome.

Schmitt JE, Yi JJ, Roalf DR, Loevner LA, Ruparel K, Whinna D, Souders MC, McDonald-McGinn DM, Yodh E, Vandekar S, Zackai EH, Gur RC, Emanuel BS, Gur RE - AJNR Am J Neuroradiol (2014)

Bottom Line: Intracranial incidental findings were classified into 8 categories and compared with a large typically developing cohort.The rate of incidental findings was significantly higher (P < .0001) in 22q11.2 deletion syndrome compared with typically developing individuals, driven by a high prevalence of cavum septum pellucidum (19.0%) and white matter abnormalities (10.3%).Cavum septum pellucidum and white matter hyperintensities are significantly more prevalent in patients with the 22q11.2 deletion syndrome and may represent biomarkers for psychosis.

View Article: PubMed Central - PubMed

Affiliation: From the Department of Radiology (J.E.S., L.A.L.), Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania Brain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania.

Show MeSH

Related in: MedlinePlus

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.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
getmorefigures.php?uid=PMC4440788&req=5

Figure 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.

Mentions: Of the 58 subjects with 22q11DS imaged, 27 had incidental findings (47%). There were no statistically significant differences in age, sex, or race between subjects with and without incidentals (Table 1). CSP and WM abnormalities were the most common incidental findings (Table 2). Secondary review of the 11 individuals with CSP demonstrated that CSP et vergae was present in all reported cases (Fig 1). Representative examples of other common incidental findings are provided in Fig 2. Five individuals in the sample presented with multiple incidental findings: 1) CSP and ventricular prominence, 2) white matter hyperintensities and a 12-mm pineal cyst, 3) multiple white matter hyperintensities and a nonspecific hypointensity in the left thalamus, 4) CSP and absent left ICA flow, and 5) ventricular asymmetry and a nonspecific white matter hyperintensity.


Incidental radiologic findings in the 22q11.2 deletion syndrome.

Schmitt JE, Yi JJ, Roalf DR, Loevner LA, Ruparel K, Whinna D, Souders MC, McDonald-McGinn DM, Yodh E, Vandekar S, Zackai EH, Gur RC, Emanuel BS, Gur RE - AJNR Am J Neuroradiol (2014)

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.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4440788&req=5

Figure 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.
Mentions: Of the 58 subjects with 22q11DS imaged, 27 had incidental findings (47%). There were no statistically significant differences in age, sex, or race between subjects with and without incidentals (Table 1). CSP and WM abnormalities were the most common incidental findings (Table 2). Secondary review of the 11 individuals with CSP demonstrated that CSP et vergae was present in all reported cases (Fig 1). Representative examples of other common incidental findings are provided in Fig 2. Five individuals in the sample presented with multiple incidental findings: 1) CSP and ventricular prominence, 2) white matter hyperintensities and a 12-mm pineal cyst, 3) multiple white matter hyperintensities and a nonspecific hypointensity in the left thalamus, 4) CSP and absent left ICA flow, and 5) ventricular asymmetry and a nonspecific white matter hyperintensity.

Bottom Line: Intracranial incidental findings were classified into 8 categories and compared with a large typically developing cohort.The rate of incidental findings was significantly higher (P < .0001) in 22q11.2 deletion syndrome compared with typically developing individuals, driven by a high prevalence of cavum septum pellucidum (19.0%) and white matter abnormalities (10.3%).Cavum septum pellucidum and white matter hyperintensities are significantly more prevalent in patients with the 22q11.2 deletion syndrome and may represent biomarkers for psychosis.

View Article: PubMed Central - PubMed

Affiliation: From the Department of Radiology (J.E.S., L.A.L.), Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania Brain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania.

Show MeSH
Related in: MedlinePlus