title: Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion.
abstract: Polymicrogyria (PMG) is a brain malformation due to abnormal cortical organisation. It is a heterogeneous disorder associated with 22q11.2 deletion syndrome (also known as velocardiofacial (VCF) syndrome) amongst others. Since this association was first recognised in 1996, over 30 patients with PMG and 22q11.2 deletion have been described. In 22q11.2 deletion syndrome, PMG is mainly located in the perisylvian areas; it frequently has an asymmetrical presentation with a striking predisposition for the right hemisphere. Neurological features of perisylvian PMG include developmental delay/mental retardation, seizures, microcephaly, spasticity and oromotor dysfunction. Thus in children diagnosed with 22q11.2 deletion syndrome, a finding of PMG has important prognostic value. We present a seven-month old boy with microcephaly, short stature and developmental delay. A cerebral MRI showed slightly enlarged ventricles and symmetrical perisylvian polymicrogyria. A 22q11.2 deletion was revealed by array-based comparative genomic hybridization. Remarkably the boy had no other manifestations of VCF syndrome. Paediatricians, child neurologists and clinical geneticists should be aware that the presence of PMG (especially in the perisylvian areas) needs investigating for 22q11.2 deletion, even if other more common VCF syndrome features are absent.
authors.affiliation: Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
authors.forename: Erica H
authors.initials: EH
authors.lastname: Gerkes
authors.forename: Roel
authors.initials: R
authors.lastname: Hordijk
authors.forename: Trijnie
authors.initials: T
authors.lastname: Dijkhuizen
authors.forename: Deborah A
authors.initials: DA
authors.lastname: Sival
authors.forename: Linda C
authors.initials: LC
authors.lastname: Meiners
authors.forename: Birgit
authors.initials: B
authors.lastname: Sikkema-Raddatz
authors.forename: Conny M A
authors.initials: CM
authors.lastname: van Ravenswaaij-Arts
mesh_terms: D002540:Cerebral Cortex / Q000002:abnormalities; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D002658:Developmental Disabilities / Q000235:genetics; D004062:DiGeorge Syndrome / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D054220:Malformations of Cortical Development / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics