Malformations of cortical development in neurofibromatosis type 1.
The authors report three patients with neurofibromatosis type 1 and different types of malformations of cortical development: Patient 1 had a possible transmantle cortical dysplasia involving the right temporoinsuloparieto-occipital areas; Patient 2 had a periventricular band of heterotopic gray matter with an overlying pachygyric cerebral cortex; and Patient 3 had a left perisylvian polymicrogyria. Because all of these lesions result from different pathogenetic mechanisms, neurofibromin may play a role during several stages of cortical development.
Balestri
P
P
Department of Pediatrics, University of Siena, Le Scotte, Italy. balestri@unisi.it
Vivarelli
R
R
Grosso
S
S
Santori
L
L
Farnetani
M A
MA
Galluzzi
P
P
Vatti
G P
GP
Calabrese
F
F
Morgese
G
G
D000293:Adolescent; D000328:Adult; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000473:pathology; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000209:etiology; D004569:Electroencephalography; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D008279:Magnetic Resonance Imaging; D008297:Male; D009421:Nervous System Malformations / Q000150:complications / Q000175:diagnosis*; D009456:Neurofibromatosis 1 / Q000150:complications / Q000175:diagnosis*; D012640:Seizures / Q000209:etiology