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Brain Apparent Diffusion Coefficient Evaluation in Pediatric Patients With Neurofibromatosis Type 1

Brain Apparent Diffusion Coefficient Evaluation in Pediatric Patients With Neurofibromatosis Type 1 ORIGINAL ARTICLE Brain Apparent Diffusion Coefficient Evaluation in Pediatric Patients With Neurofibromatosis Type 1 Giuseppe Tognini, MD,* Francesco Ferrozzi, MD,* Giacomo Garlaschi, MD,† Paolo Piazza, MD,‡ Arianna Patti, MD,* Raffaele Virdis, MD,§ Chiara Bertolino, MD,‡ Giancarlo Bertolino, MD,‡ Daniele Manfredini, DDS, Maurizio Zompatori, MD,* and Girolamo Crisi, MD‡ eurofibromatosis type 1 (NF1) is the most common of the Objective: The most frequent intracranial appearance in children Nphakomatoses (neurocutaneous syndromes) and occurs 1–3 with neurofibromatosis type 1 (NF1) is represented by the presence in 1 of every 2500 to 3000 live births. It is inherited in an of hyperintense lesions on T2-weighted images, the so-called autosomal dominant fashion with a high rate of penetrance, ‘‘unidentified bright objects’’ (UBOs). Di Paolo demonstrated that but approximately half of the cases represent new mutations. these lesions represent foci of myelin vacuolization with increased The NF1 gene is located on the long arm of chromosome water content. The aim of this study was to investigate the isotropic 17 and shows a high mutation rate. Such a locus encodes apparent diffusion coefficient (ADC) values within the UBOs and for neurofibromin, a 250-KDa protein with specific tumor normal-appearing brain and at the regressed UBO sites. suppressor http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Computer Assisted Tomography Wolters Kluwer Health

Brain Apparent Diffusion Coefficient Evaluation in Pediatric Patients With Neurofibromatosis Type 1

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Copyright
Copyright © 2005 by Lippincott Williams & Wilkins
ISSN
0363-8715
eISSN
1532-3145
DOI
10.1097/01.rct.0000162406.71300.b7
Publisher site
See Article on Publisher Site

Abstract

ORIGINAL ARTICLE Brain Apparent Diffusion Coefficient Evaluation in Pediatric Patients With Neurofibromatosis Type 1 Giuseppe Tognini, MD,* Francesco Ferrozzi, MD,* Giacomo Garlaschi, MD,† Paolo Piazza, MD,‡ Arianna Patti, MD,* Raffaele Virdis, MD,§ Chiara Bertolino, MD,‡ Giancarlo Bertolino, MD,‡ Daniele Manfredini, DDS, Maurizio Zompatori, MD,* and Girolamo Crisi, MD‡ eurofibromatosis type 1 (NF1) is the most common of the Objective: The most frequent intracranial appearance in children Nphakomatoses (neurocutaneous syndromes) and occurs 1–3 with neurofibromatosis type 1 (NF1) is represented by the presence in 1 of every 2500 to 3000 live births. It is inherited in an of hyperintense lesions on T2-weighted images, the so-called autosomal dominant fashion with a high rate of penetrance, ‘‘unidentified bright objects’’ (UBOs). Di Paolo demonstrated that but approximately half of the cases represent new mutations. these lesions represent foci of myelin vacuolization with increased The NF1 gene is located on the long arm of chromosome water content. The aim of this study was to investigate the isotropic 17 and shows a high mutation rate. Such a locus encodes apparent diffusion coefficient (ADC) values within the UBOs and for neurofibromin, a 250-KDa protein with specific tumor normal-appearing brain and at the regressed UBO sites. suppressor

Journal

Journal of Computer Assisted TomographyWolters Kluwer Health

Published: May 1, 2005

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