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Clinical, MRI, and pathological features of polymicrogyria in chromosome 22q11 deletion syndrome

✍ Scribed by Sztriha, L�szl� ;Guerrini, Renzo ;Harding, Brian ;Stewart, Fiona ;Chelloug, Nora ;Johansen, Johan G.

Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
195 KB
Volume
127A
Category
Article
ISSN
0148-7299

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✦ Synopsis

Abstract

Polymicrogyria is a brain malformation due to abnormal cortical organization. Two histological types, unlayered or four‐layered can be distinguished. Polymicrogyria is a rare manifestation of chromosome 22q11 deletion syndrome. We report two boys with chromosome 22q11 deletion syndrome and polymicrogyria, and describe the neuropathological features of the malformation in one of them. Clinical examinations, EEG, brain MRI, chromosomal analysis with FISH, and neuropathological studies of surgically resected cortical tissue were performed. Both patients showed severe developmental delay with cardiovascular malformations and one of them had drug resistant epilepsy. Polymicrogyria was found in the frontal, parietal, and temporal areas, unilaterally in one patient and bilaterally in the other. Histology revealed four‐layered polymicrogyria. The pathogenesis of polymicrogyria in 22q11 deletion syndrome is discussed. © 2004 Wiley‐Liss, Inc.

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The authors report that in the caption to Figure 1, the fourth sentence should have read ''The trigon of the right lateral ventricle is enlarged.'' The authors regret the error.