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

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)163-167
Number of pages5
JournalJournal of Pediatric Neuroradiology
Issue number2
StatePublished - 2013


  • Agenesis
  • Cerebellum
  • Disruptive lesion
  • Prematurity

ASJC Scopus subject areas

  • Clinical Neurology
  • Radiology Nuclear Medicine and imaging
  • Pediatrics, Perinatology, and Child Health


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