Malformations of cortical development in neurofibromatosis type 1

• Published in: Neurology Vol. 61; no. 12; pp. 1799 - 1801
• Main Authors: BALESTRI, P, VIVARELLI, R, GROSSO, S, SANTORI, L, FARNETANI, M. A, GALLUZZI, P, VATTI, G. P, CALABRESE, F, MORGESE, G
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD Lippincott Williams & Wilkins 23-12-2003
• Subjects: Adolescent; Adult; Biological and medical sciences; Cerebral Cortex - abnormalities; Cerebral Cortex - pathology; Child, Preschool; Developmental Disabilities - etiology; Electroencephalography; Female; Humans; Intellectual Disability - etiology; Magnetic Resonance Imaging; Male; Medical sciences; Nervous System Malformations - complications; Nervous System Malformations - diagnosis; Neurofibromatosis 1 - complications; Neurofibromatosis 1 - diagnosis; Neurology; Seizures - etiology; Nervous system diseases; Benign neoplasm; Phacomatosis; Malformation; Neurofibromatosis
• ISSN: 0028-3878; 1526-632X
• DOI: 10.1212/01.WNL.0000099080.90726.BA

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.