Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.
Several brain malformations have been described in rare patients with the deletion 22q11.2 syndrome (DEL22q11) including agenesis of the corpus callosum, pachygyria or polymicrogyria (PMG), cerebellar anomalies and meningomyelocele, with PMG reported most frequently. In view of our interest in the causes of PMG, we reviewed clinical data including brain-imaging studies on 21 patients with PMG associated with deletion 22q11.2 and another 11 from the literature. We found that the cortical malformation consists of perisylvian PMG of variable severity and frequent asymmetry with a striking predisposition for the right hemisphere (P = 0.008). This and other observations suggest that the PMG may be a sequela of abnormal embryonic vascular development rather than a primary brain malformation. We also noted mild cerebellar hypoplasia or mega-cisterna magna in 8 of 24 patients. Although this was not the focus of the present study, mild cerebellar anomalies are probably the most common brain malformation associated with DEL22q11.
Robin
Nathaniel H
NH
Department of Genetics, University of Alabama at Birmingham, USA.
Taylor
Clare J
CJ
McDonald-McGinn
Donna M
DM
Zackai
Elaine H
EH
Bingham
Peter
P
Collins
Kevin J
KJ
Earl
Dawn
D
Gill
Deepak
D
Granata
Tiziana
T
Guerrini
Renzo
R
Katz
Naomi
N
Kimonis
Virginia
V
Lin
Jean-Pierre
JP
Lynch
David R
DR
Mohammed
Shehla N
SN
Massey
Roger F
RF
McDonald
Marie
M
Rogers
R Curtis
RC
Splitt
Miranda
M
Stevens
Cathy A
CA
Tischkowitz
Marc D
MD
Stoodley
Neil
N
Leventer
Richard J
RJ
Pilz
Daniela T
DT
Dobyns
William B
WB
D002531:Cerebellum / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014681:Velopharyngeal Insufficiency / Q000235:genetics