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

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Abstract

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

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Klein, J. L., Lemmon, M. E., Northington, F. J., Boltshauser, E., Huisman, T. A. G. M., & Poretti, A. (2016). Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement. Cerebellum and Ataxias. BioMed Central Ltd. https://doi.org/10.1186/s40673-016-0039-1

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