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Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation
Author(s) -
Robin Nathaniel H.,
Taylor Clare J.,
McDonaldMcGinn Donna M.,
Zackai Elaine H.,
Bingham Peter,
Collins Kevin J.,
Earl Dawn,
Gill Deepak,
Granata Tiziana,
Guerrini Renzo,
Katz Naomi,
Kimonis Virginia,
Lin JeanPierre,
Lynch David R.,
Mohammed Shehla N.,
Massey Roger F.,
McDonald Marie,
Rogers R. Curtis,
Splitt Miranda,
Stevens Cathy A.,
Tischkowitz Marc D.,
Stoodley Neil,
Leventer Richard J,
Pilz Daniela T.,
Dobyns William B.
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31443
Subject(s) - polymicrogyria , pachygyria , corpus callosum , agenesis of the corpus callosum , lissencephaly , hypoplasia , agenesis , vascular malformation , pathology , sequela , cerebellar hypoplasia (non human) , medicine , cerebellum , etiology , epilepsy , anatomy , biology , neuroscience , radiology , genetics , surgery , gene
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. © 2006 Wiley‐Liss, Inc.