Epilepsy, neuropsychiatric phenotypes, neuroimaging findings, and genotype-neurophenotype correlation in 22q11.2 deletion syndrome

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Figure 1
MRI (Patient 6 in Table 1) at age of 18 months with axial (a) and coronal (b)T2-weighted images, axial fluid-attenuated inversion recovery (c) and sagittal (d) T1-weighted images show supra and infratentorial atrophic changes with scattered white matter abnormalities in the periventricular and deep white matter, tiny lacunar infarct at right thalamus, cavum of the septum pellucidum, and global thinning of the corpus callosum
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Figure 2
Incidental finding in a patient with 22q11.2 DS of cavum septum pellucidum and vergae, with focal abnormal cortical development at the right inferior frontal gyrus with subcortical white matter signal abnormality extending to the lateral ventricle.

TABLE 1

Clinical features and EEG finding of 6 patients with 22q11.2 deletion syndrome with epilepsy.

Age/sex	Age at onset of seizure	seizure type	EEG finding	Response to AED	Brain MRI findings	Delayed development	Intellectual disability	Psychiatric disorder	Deletion size
3 yr/M	20 days	Focal	G. slow BA	Well-controlled on BZO	Multifocal T2 HSI in WM, cerebral atrophy	+	NA(he died)	_	2.5 Mb
22 yr/M	19 years	GTC	G. slow BA	Well-controlled on LEV	Superior cerebellar vermis hypoplasia	+	+	_	Fish: 46,XY.ish 22q11.2(TUPLE1x1)
13 yr/M	3 months	GTC	Normal	Well-controlled on PHB, currently off AED	Normal	+	Borderline intellectual ability	ADHD	4.9 Mb
20 yr/M	8 years	GTC	Normal	Well-controlled on VPA	Pallidal and subcortical calcification	+	+	Psychosis, mood disorder	2.5 Mb
5 yr/M	5 years	Focal	Normal	Well-controlled on LEV	Normal	+	+	_	652 Kb
2.5 yr/M	1 month	Focal	BIRD+ED over the central region	Well-controlled on LEV	Scattered abnormalities in the deep WM, tiny lacunar infarct at right thalamus, CSP, thin CC, cerebral atrophy	+	+	_	2.5 Mb
M - Male, yr - Year, GTC - Generalized tonic-clonic, G - Generalized, BA - Background activity, BIRD - Brief ictal rhythmic discharge, ED - Epileptiform discharge, BZO - Benzodiazepine, LEV - Levetiracetam, VPA - Valproic acid, AED - Antiepileptic drug, HSI - High signal intensity, WM - White matter, CSP - Cavum septum pellucidum, CC - Corpus callosum, NA - Not applicable, ADHD - Attention deficit hyperactivity disorder