Polymicrogyria in chromosome 22q11 deletion syndrome.
Central nervous system (CNS) dysfunction is a cardinal feature in 22q11 deletion. The underlying CNS abnormalities remain, however, unknown. We report unilateral hemispheric polymicrogyria in a child with 22q11 deletion presenting with hemiplegia and cognitive and behavioural disorders. This observation widens the spectrum of brain malformations associated with this genetic defect. It further suggests a relationship between the 22q11 deletion and disorders of cerebral gyration. It would therefore be interesting to look for neuronal migration disorders in patients with 22q11 deletion presenting neurological signs, and on the other hand to screen for 22q11 deletion in patients with isolated neuronal migration disorders.
Ghariani
Sophie
S
Department of Pediatric Neurology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium. sophie.ghariani@swing.be
Dahan
Karin
K
Saint-Martin
Christine
C
Kadhim
Hazim
H
Morsomme
Françoise
F
Moniotte
Stéphane
S
Verellen-Dumoulin
Christine
C
Sébire
Guillaume
G
D001921:Brain / Q000002:abnormalities*; D001927:Brain Diseases / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004569:Electroencephalography; D005819:Genetic Markers; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D013577:Syndrome
D005819:Genetic Markers