Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients

J Child Neurol. 2012 Sep;27(9):1121-32. doi: 10.1177/0883073812448680. Epub 2012 Jul 4.

Abstract

Hereditary ataxias associated with cerebellar atrophy are a heterogeneous group of disorders. Selection of appropriate clinical and genetic tests for patients with cerebellar atrophy poses a diagnostic challenge. Neuroimaging is a crucial initial investigation in the diagnostic evaluation of ataxia in childhood, and the presence of cerebellar atrophy helps guide further investigations. We performed a detailed review of 300 patients with confirmed cerebellar atrophy on magnetic resonance imaging over a 10-year period. A diagnosis was established in 47% of patients: Mitochondrial disorders were most common, followed by neuronal ceroid lipofuscinosis, ataxia telangiectasia, and late-onset GM2 gangliosidosis. We review the common causes of cerebellar atrophy in childhood and propose a diagnostic approach based on correlating specific neuroimaging patterns with clinical and genetic diagnoses.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Atrophy / diagnosis
  • Atrophy / etiology
  • Cerebellar Ataxia / complications*
  • Cerebellar Ataxia / diagnosis*
  • Cerebellum / pathology*
  • Child
  • Child, Preschool
  • Female
  • Gangliosidoses, GM2
  • Humans
  • Infant
  • Infant, Newborn
  • Longitudinal Studies
  • Magnetic Resonance Imaging
  • Male
  • Mitochondrial Diseases / complications
  • Retrospective Studies