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Semin Neurol 2014; 34(03): 239-248
DOI: 10.1055/s-0034-1386762
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Congenital Brain Abnormalities: An Update on Malformations of Cortical Development and Infratentorial Malformations

Andrea Poretti
1   Section of Pediatric Neuroradiology, Division of Pediatric Radiology, The Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland
2   Division of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland
,
Eugen Boltshauser
2   Division of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland
,
Thierry A.G.M. Huisman
1   Section of Pediatric Neuroradiology, Division of Pediatric Radiology, The Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland
› Author Affiliations
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Publication History

Publication Date:
05 September 2014 (online)

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Abstract

In the past two decades, significant progress in neuroimaging and genetic techniques has allowed for advances in the correct definition/classification of congenital brain abnormalities, which have resulted in a better understanding of their pathogenesis. In addition, new groups of diseases, such as axonal guidance disorders or tubulinopathies, are increasingly reported. Well-defined neuroimaging diagnostic criteria have been suggested for the majority of congenital brain abnormalities. Accurate diagnoses of these complex abnormalities, including distinction between malformations and disruptions, are of paramount significance for management, prognosis, and family counseling. In the next decade, these advances will hopefully be translated into deeper understanding of these disorders and more specific treatments.

Keywords

brain - malformations - disruptions - genetics - neuroimaging - children
 

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