Case report. We report on a 7-year-old girl with generalized epilepsy and mental retardation. Discussion: Neurologic examination was normal and only facial dysmorphic features, compatible with frontonasal dysplasia, were observed. However, magnetic resonance imaging (MRI) revealed Chiari I malformation together with bilateral opercular polymicrogyria. To our knowledge, this is the first report of the association of these developmental disorders. This condition raises questions regarding the ethiopathogenetic classification of Chiari spectrum and as to whether embryologic and genetic causes could be potentially interconnected.

Bilateral perysilvian polymicrogyria in Chiari I malformation / Spalice, Alberto; Parisi, Pasquale; Mastrangelo, Mario; F., De Luca; A., Verrotti; Iannetti, Paola. - In: CHILDS NERVOUS SYSTEM. - ISSN 0256-7040. - STAMPA. - 22:12(2006), pp. 1635-1637. [10.1007/s00381-006-0180-x]

Bilateral perysilvian polymicrogyria in Chiari I malformation

SPALICE, ALBERTO
;
PARISI, Pasquale;MASTRANGELO, Mario;IANNETTI, Paola
2006

Abstract

Case report. We report on a 7-year-old girl with generalized epilepsy and mental retardation. Discussion: Neurologic examination was normal and only facial dysmorphic features, compatible with frontonasal dysplasia, were observed. However, magnetic resonance imaging (MRI) revealed Chiari I malformation together with bilateral opercular polymicrogyria. To our knowledge, this is the first report of the association of these developmental disorders. This condition raises questions regarding the ethiopathogenetic classification of Chiari spectrum and as to whether embryologic and genetic causes could be potentially interconnected.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/235044
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