Differential Diagnosis of Cerebellar Atrophy in Childhood: An Update

Andrea Poretti, Nicole I. Wolf, Eugen Boltshauser

Research output: Contribution to journalReview articlepeer-review

Abstract

Cerebellar atrophy (CA) is a relatively common, but nonspecific finding in pediatric neurology and neuroradiology. Here, we provide an update of checklists for postnatally acquired CA, unilateral CA, and hereditary CA. In addition, we include a list of disorders with ataxia as a symptom, but without CA. These checklists may help the evaluation of differential diagnosis and planning of additional investigations. For diseases associated with hereditary CA, we provide an updated version of our neuroimaging-based pattern-recognition approach that classify CA as isolated (pure) or associated (plus) with other neuroimaging findings including hypomyelination, progressive white matter abnormalities, signal changes of the dentate nucleus, cerebellar cortex T2-hyperintensity, and basal ganglia involvement. Finally, we discuss some rules with their exceptions related to pediatric CA, discrepancies between clinical and neuroimaging course, and the difficulties to differentiate CA from cerebellar hypoplasia.

Original languageEnglish (US)
Pages (from-to)359-370
Number of pages12
JournalNeuropediatrics
Volume46
Issue number6
DOIs
StatePublished - Oct 7 2015

Keywords

  • cerebellar atrophy
  • cerebellum
  • children
  • neuroimaging
  • pattern-recognition

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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