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Diagnostic Approach to Cerebellar Hypoplasia.
Accogli, Andrea; Addour-Boudrahem, Nassima; Srour, Myriam.
Afiliação
  • Accogli A; Department of Pediatrics, Division of Pediatric Neurology, McGill University, Montreal, Canada.
  • Addour-Boudrahem N; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Srour M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.
Cerebellum ; 20(4): 631-658, 2021 Aug.
Article em En | MEDLINE | ID: mdl-33534089
Cerebellar hypoplasia (CH) refers to a cerebellum of reduced volume with preserved shape. CH is associated with a broad heterogeneity in neuroradiologic features, etiologies, clinical characteristics, and neurodevelopmental outcomes, challenging physicians evaluating children with CH. Traditionally, neuroimaging has been a key tool to categorize CH based on the pattern of cerebellar involvement (e.g., hypoplasia of cerebellar vermis only vs. hypoplasia of both the vermis and cerebellar hemispheres) and the presence of associated brainstem and cerebral anomalies. With the advances in genetic technologies of the recent decade, many novel CH genes have been identified, and consequently, a constant updating of the literature and revision of the classification of cerebellar malformations are needed. Here, we review the current literature on CH. We propose a systematic approach to recognize specific neuroimaging patterns associated with CH, based on whether the CH is isolated or associated with posterior cerebrospinal fluid anomalies, specific brainstem or cerebellar malformations, brainstem hypoplasia with or without cortical migration anomalies, or dysplasia. The CH radiologic pattern and clinical assessment will allow the clinician to guide his investigations and genetic testing, give a more precise diagnosis, screen for associated comorbidities, and improve prognostication of associated neurodevelopmental outcomes.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Cerebelares / Malformações do Sistema Nervoso Tipo de estudo: Diagnostic_studies / Prognostic_studies / Systematic_reviews Limite: Child / Humans Idioma: En Revista: Cerebellum Assunto da revista: CEREBRO Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Canadá

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Cerebelares / Malformações do Sistema Nervoso Tipo de estudo: Diagnostic_studies / Prognostic_studies / Systematic_reviews Limite: Child / Humans Idioma: En Revista: Cerebellum Assunto da revista: CEREBRO Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Canadá