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

Jessica L Klein; Monica E Lemmon; Frances J Northington; Eugen Boltshauser; Thierry A G M Huisman; Andrea Poretti

doi:10.1186/s40673-016-0039-1

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

Cerebellum Ataxias. 2016 Jan 13:3:1. doi: 10.1186/s40673-016-0039-1. eCollection 2016.

Authors

Jessica L Klein¹, Monica E Lemmon², Frances J Northington³, Eugen Boltshauser⁴, Thierry A G M Huisman⁵, Andrea Poretti⁶

Affiliations

¹ Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD USA ; Neurosciences Intensive Care Nursery Program, The Johns Hopkins University School of Medicine, Baltimore, MD USA ; Department of Pediatrics, Medical University of South Carolina, Charleston, SC USA.
² Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD USA ; Neurosciences Intensive Care Nursery Program, The Johns Hopkins University School of Medicine, Baltimore, MD USA ; Division of Pediatric Neurology, Department of Pediatrics, Duke University School of Medicine, Durham, NC USA.
³ Neurosciences Intensive Care Nursery Program, The Johns Hopkins University School of Medicine, Baltimore, MD USA ; Division of Neonatology, Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, MD USA.
⁴ Division of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland.
⁵ Neurosciences Intensive Care Nursery Program, The Johns Hopkins University School of Medicine, Baltimore, MD USA ; 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, Charlotte R. Bloomberg Children's Center, Sheikh Zayed Tower, Room 4174, 1800 Orleans Street, Baltimore, MD USA.
⁶ Neurosciences Intensive Care Nursery Program, The Johns Hopkins University School of Medicine, Baltimore, MD USA ; Division of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland ; 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, Charlotte R. Bloomberg Children's Center, Sheikh Zayed Tower, Room 4174, 1800 Orleans Street, Baltimore, MD USA.

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.

Keywords: Cerebellum; Neonatal neurology; Neonate; Neuroimaging.

Publication types

Review

Grants and funding

R01 HD070996/HD/NICHD NIH HHS/United States