CEREBRAL POLYMICROGYRIA AND 22q11 DELETION SYNDROME

Introduction. Chromosome 22q11 microdeletion syndrome, DiGeorge syndrome or CATCH 22 spectrum, is characterised by conotruncal heart malformations, facial dysmorphisms, cleft palate, velopharyngeal insufficiency, transient hypocalcemia and T cell disorders. Furthermore, a significant number of patients may present autism-type developmental disorders, learning disabilities, attention deficit hyperactivity disorder or schizophrenia-like psychiatric problems. Case report. A girl with congenital heart disease that had been treated surgically, in the neonatal period, who presented psychomotor retardation, dysmorphic features and microcephaly. The conventional karyotype study that was performed at birth was normal. The physical examination revealed subtle signs of left hemiparesis. A neuroimaging study showed polymicrogyria cortical dysplasia that involved the right frontotemporal cortex. A chromosomal study was conducted and findings showed a 22q11.2 chromosome deletion. Conclusions. Brain malformations at children with deletion of the 22q11.2 chromosome have been reported prebviously, but their real prevalence and the most frequent type of malformation have not been properly determined. The authors conclude that brain malformations should be studied in all patients with 22q11.2 deletion and it should be borne in mind that all patients with cortical dysplasias may present this deletion. [REV NEUROL 2009; 48: 188-90]