Anecdotal cases of polymicrogyria (PMG; a malformation of cortical development consisting of an excessive number of small gyri with abnormal lamination) in patients with neurofibromatosis type 1 (NF1) have been described; however, the cases were unilateral and had negative NF1 genetic testing. We describe an 11-year-old girl with NF1 manifesting as a complex epileptic syndrome, including partial seizures secondarily generalized and status epilepticus, who had in association, bilateral, asymmetrical (opercular and paracentral lobular) PMG. She had a 1-bp deletion (c.1862delC) in exon 12b of the NF1 gene. It is notable that, given the key role played by the NF1 gene product, neurofibromin, in normal brain development, and the relatively high frequency of other brain findings in NF1, there are not more NF1 cases with brain malformations manifesting as PMG. © 2011 Wiley-Liss, Inc.

Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1 / Ruggieri, Martino; MASTRANGELO, Mario; Spalice, Albert; MARIANI, ROSANNA; TORRENTE, ISABELLA; Polizzi, Agata; BOTTILLO, IRENE; Di Biase, Claudio; IANNETTI, Paola. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - 155:3(2011), pp. 582-585. [10.1002/ajmg.a.33318]

Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1

MASTRANGELO, Mario;MARIANI, ROSANNA;TORRENTE, ISABELLA;BOTTILLO, IRENE;IANNETTI, Paola
2011

Abstract

Anecdotal cases of polymicrogyria (PMG; a malformation of cortical development consisting of an excessive number of small gyri with abnormal lamination) in patients with neurofibromatosis type 1 (NF1) have been described; however, the cases were unilateral and had negative NF1 genetic testing. We describe an 11-year-old girl with NF1 manifesting as a complex epileptic syndrome, including partial seizures secondarily generalized and status epilepticus, who had in association, bilateral, asymmetrical (opercular and paracentral lobular) PMG. She had a 1-bp deletion (c.1862delC) in exon 12b of the NF1 gene. It is notable that, given the key role played by the NF1 gene product, neurofibromin, in normal brain development, and the relatively high frequency of other brain findings in NF1, there are not more NF1 cases with brain malformations manifesting as PMG. © 2011 Wiley-Liss, Inc.
File allegati a questo prodotto
File Dimensione Formato  
Ruggieri_Polymicrogyria-neurofibromatosis_2011.pdf

solo gestori archivio

Tipologia: Versione editoriale (versione pubblicata con il layout dell'editore)
Licenza: Tutti i diritti riservati (All rights reserved)
Dimensione 841.27 kB
Formato Adobe PDF
841.27 kB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11573/542299
Citazioni
  • ???jsp.display-item.citation.pmc??? 3
  • Scopus 19
  • ???jsp.display-item.citation.isi??? 17
social impact