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

[22q11.2 deletion syndrome]

The 22 q 11 .2 deletion syndrome is a common genetic microdeletion syndrome that results in cognitive delays and an increased risk of several psychiatric disorders , particularly schizophrenia . The current study investigates the prevalence of incidental neuroradiologic findings within this population and their relationships with psychiatric conditions .Brain MR imaging from 58 individuals with 22 q 11 .2 deletion syndrome was reviewed by board-certified radiologists by using standard clinical procedures . 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 22 q 11 .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 %). Both of these findings were associated with psychosis in 22 q 11 .2 deletion syndrome .Cavum septum pellucidum and white matter hyperintensities are significantly more prevalent in patients with the 22 q 11 .2 deletion syndrome and may represent biomarkers for psychosis .

Diseases
Validation

Diseases presenting "schizophrenia" symptom

22q11.2 deletion syndrome

achondroplasia

alexander disease

cadasil

child syndrome

congenital toxoplasmosis

kabuki syndrome

kallmann syndrome

krabbe disease

neuralgic amyotrophy

oligodontia

oral submucous fibrosis

zellweger syndrome

This symptom has already been validated