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Midbrain-Hindbrain Malformations: Advances in Clinical Diagnosis, Imaging, and Genetics

Identifieur interne : 003470 ( Pmc/Corpus ); précédent : 003469; suivant : 003471

Midbrain-Hindbrain Malformations: Advances in Clinical Diagnosis, Imaging, and Genetics

Auteurs : Dan Doherty ; Kathleen J. Millen ; A. James Barkovich

Source :

RBID : PMC:4158743

Abstract

Historically, the midbrain and hindbrain (MBHB) have been considered “support staff” for the cerebrum, which has typically been acknowledged as the most important part of the brain. Radiologists and pathologists did not regularly examine these structures, also known as the brainstem and cerebellum, because they are small and difficult to remove without damage. With recent improvements in neuroimaging, neuropathology and neurogenetics, many developmental disorders of the MBHB have emerged as significant causes of neurodevelopmental dysfunction. This review provides an overview of MBHB disorders important to clinicians and developmental biologists. A basic understanding of MBHB embryology is essential to understanding the malformations that occur in MBHB structures; therefore, a brief embryology review is provided, as is a review of MBHB anatomy as assessed by MRI, and an approach to MRI analysis of the individual structures. Clinical features common to many MBHB disorders are presented, followed by a more in depth summary of the clinical presentations, MRI features and genetic causes of many common, and some less common, malformations. Research advances that may change how we treat these patients in the future are briefly discussed. The information provided in this review will improve the clinical acumen of the practicing neurologist in regard to malformations of the MBHB, while at the same time adding to their understanding of brainstem and cerebellar development, genetics, and function.


Url:
DOI: 10.1016/S1474-4422(13)70024-3
PubMed: 23518331
PubMed Central: 4158743

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PMC:4158743

Le document en format XML

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