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1: Neurology. 2003 Dec 23;61(12):1799-801.Click here to read Links

Malformations of cortical development in neurofibromatosis type 1.

Balestri P, Vivarelli R, Grosso S, Santori L, Farnetani MA, Galluzzi P, Vatti GP, Calabrese F, Morgese G.

Department of Pediatrics, University of Siena, Le Scotte, Italy. balestri@unisi.it

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.

PMID: 14694053 [PubMed - indexed for MEDLINE]