MRI of a family with focal abnormalities of gyration.
Focal abnormalities of gyration (FAG) are developmental disorders that may occur in isolated patients or, as in the case being reported, as part of a familial disorder. Analysis of individuals in a family spanning three generations was carried out using MRI. Abnormalities, present in all members of generations II and III, included focal cortical dysplasia (three patients), focal cortical infolding (two patients) and schizencephaly (one patient); associated minor anomalies, such as white matter abnormalities, were seen in the remaining three members of generations II and III. MRI recognition of FAG in the family being reported proved useful in defining their phenotypical expression and providing proper counselling for individual family members.
Muntaner
L
L
Department of Radiology, Son Dureta University Hospital, Palma de Mallorca, Spain.
Pérez-Ferrón
J J
JJ
Herrera
M
M
Rosell
J
J
Taboada
D
D
Climent
S
S
D000328:Adult; D000368:Aged; D001927:Brain Diseases / Q000175:diagnosis / Q000235:genetics*; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000473:pathology; D002828:Choristoma / Q000175:diagnosis / Q000235:genetics*; D004569:Electroencephalography; D004828:Epilepsies, Partial / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009474:Neurons; D010375:Pedigree; D014057:Tomography, X-Ray Computed