Affiliations: Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD, USA | Department of Pediatric Neurology, University Children’s Hospital, Zurich, Switzerland | Neurointensive Care Nursery Group, The Johns Hopkins University School of Medicine, Baltimore, MD, USA | Kennedy Krieger Institute, Baltimore, MD, USA | Division of Neonatology, Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, MD, USA | Departments of Neurology, Pediatrics and Physical Medicine and Rehabilitation, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
Note: [] Corresponding author: Thierry A.G.M. Huisman, Division Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The JohnsHopkins University School of Medicine, 600 North Wolfe Street, Nelson B-173, Baltimore, MD 21287-0842, USA. Tel.: +1 410 955 6454; Fax: +1 410 502 3633; E-mail: [email protected].
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.
