Cerebellar agenesis: An extreme form of cerebellar disruption in preterm neonates

Andrea Poretti; Sarah Risen; Avner Meoded; Frances J. Northington; Michael V. Johnston; Eugen Boltshdauser; Thierry A.G.M. Huisman

doi:10.3233/PNR-13060

Journal of Pediatric Neuroradiology, Inhaltsverzeichnis

Journal of Pediatric Neuroradiology 2013; 02(02): 163-167
DOI: 10.3233/PNR-13060

Case Report

Georg Thieme Verlag KG Stuttgart – New York

Cerebellar agenesis: An extreme form of cerebellar disruption in preterm neonates

Andrea Poretti

^aDivision of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD, USA

^bDepartment of Pediatric Neurology, University Children’s Hospital, Zurich, Switzerland

^cNeurointensive Care Nursery Group, The Johns Hopkins University School of Medicine, Baltimore, MD, USA

,

Sarah Risen

^cNeurointensive Care Nursery Group, The Johns Hopkins University School of Medicine, Baltimore, MD, USA

^dKennedy Krieger Institute, Baltimore, MD, USA

,

Avner Meoded

^aDivision of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD, USA

^cNeurointensive Care Nursery Group, The Johns Hopkins University School of Medicine, Baltimore, MD, USA

,

Frances J. Northington

^cNeurointensive Care Nursery Group, The Johns Hopkins University School of Medicine, Baltimore, MD, USA

^eDivision of Neonatology, Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, MD, USA

,

Michael V. Johnston

^cNeurointensive Care Nursery Group, The Johns Hopkins University School of Medicine, Baltimore, MD, USA

^dKennedy Krieger Institute, Baltimore, MD, USA

^fDepartments of Neurology, Pediatrics and Physical Medicine and Rehabilitation, The Johns Hopkins University School of Medicine, Baltimore, MD, USA

,

Eugen Boltshdauser

^bDepartment of Pediatric Neurology, University Children’s Hospital, Zurich, Switzerland

,

Thierry A.G.M. Huisman

^aDivision of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD, USA

^cNeurointensive Care Nursery Group, The Johns Hopkins University School of Medicine, Baltimore, MD, USA

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Abstract

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Abstract

Cerebellar agenesis (CA) may result from both a genetically mediated as well as a disruptive etiology. In preterm neonates, the cerebellum is highly susceptible to injury. Different neuroimaging findings have been reported in disrupted cerebellar development in preterm neonates. We report the association of CA and severe periventricular leukomalacia in a 7-year-old girl with spastic tetraparesis, profound cognitive impairment, epileptic seizures and posthemorrhagic hydrocephalus who was born at 25 wk of gestation. The neuroimaging studies performed during the first wk of life had shown a normal structure of the cerebellum and brainstem confirming a disruptive, rather than a malformative etiology. CA is the most severe form of cerebellar disruption in preterm neonates. Differentiation between malformative and disruptive etiologies of CA is important for prognosis and genetic counseling of the affected children and their families.

Keywords

Cerebellum - agenesis - prematurity - disruptive lesion

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