Posterior agyria-pachygyria with polymicrogyria: evidence for an inherited neuronal migration disorder.
We describe two brothers with mental retardation and refractory epilepsy. MRI revealed symmetrical agyria-pachygyria of the temporo-occipito-parietal regions, areas of deeply infolded polymicrogyric parietal cortex, and dilated occipital horns (colpocephaly). The stereotyped clinical, EEG, and MRI findings suggest that this may be a distinct inherited condition and imply that agyria-pachygyria with polymicrogyria is not always sporadic.
Ferrie
C D
CD
Department of Clinical Neurophysiology and Epilepsy, St. Thomas' Hospital, London, UK.
Jackson
G D
GD
Giannakodimos
S
S
Panayiotopoulos
C P
CP
D001921:Brain / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology; D002648:Child; D004569:Electroencephalography; D004827:Epilepsy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009474:Neurons / Q000473:pathology / Q000502:physiology*; D009778:Occipital Lobe / Q000002:abnormalities; D010296:Parietal Lobe / Q000002:abnormalities; D013577:Syndrome; D013702:Temporal Lobe / Q000002:abnormalities