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Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement


Klein, Jessica L; Lemmon, Monica E; Northington, Frances J; Boltshauser, Eugen; Huisman, Thierry A G M; Poretti, Andrea (2016). Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement. Cerebellum & Ataxias, 3(1):online.

Abstract

Cerebellar abnormalities are encountered in a high number of neurological diseases that present in the neonatal period. These disorders can be categorized broadly as inherited (e.g. malformations, inborn errors of metabolism) or acquired (e.g. hemorrhages, infections, stroke). In some disorders such as Dandy-Walker malformation or Joubert syndrome, the main abnormalities are located within the cerebellum and brainstem. In other disorders such as Krabbe disease or sulfite oxidase deficiency, the main abnormalities are found within the supratentorial brain, but the cerebellar involvement may be helpful for diagnostic purposes. In In this article, we review neurological disorders with onset in the neonatal period and cerebellar involvement with a focus on how characterization of cerebellar involvement can facilitate accurate diagnosis and improved accuracy of neuro-functional prognosis.

Abstract

Cerebellar abnormalities are encountered in a high number of neurological diseases that present in the neonatal period. These disorders can be categorized broadly as inherited (e.g. malformations, inborn errors of metabolism) or acquired (e.g. hemorrhages, infections, stroke). In some disorders such as Dandy-Walker malformation or Joubert syndrome, the main abnormalities are located within the cerebellum and brainstem. In other disorders such as Krabbe disease or sulfite oxidase deficiency, the main abnormalities are found within the supratentorial brain, but the cerebellar involvement may be helpful for diagnostic purposes. In In this article, we review neurological disorders with onset in the neonatal period and cerebellar involvement with a focus on how characterization of cerebellar involvement can facilitate accurate diagnosis and improved accuracy of neuro-functional prognosis.

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Additional indexing

Item Type:Journal Article, refereed, further contribution
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:2016
Deposited On:10 Feb 2017 09:15
Last Modified:21 Aug 2017 10:50
Publisher:BioMed Central
ISSN:2053-8871
Free access at:PubMed ID. An embargo period may apply.
Publisher DOI:https://doi.org/10.1186/s40673-016-0039-1
PubMed ID:26770813

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