The shrunken, bright cerebellum: a characteristic MRI finding in congenital disorders of glycosylation type 1a

AJNR Am J Neuroradiol. 2012 Dec;33(11):2062-7. doi: 10.3174/ajnr.A3151. Epub 2012 Jun 21.

Abstract

CDG-1a is an early-onset neurodegenerative disease with selective hindbrain involvement and highly variable clinical presentation. We retrospectively reviewed the clinical records and MR imaging studies of 5 children (3 boys and 2 girls aged 12 days to 2 years at presentation) with molecularly confirmed CDG-1a. The cerebellum was hypoplastic at presentation in 4 cases, progressive bulk loss involved the cerebellum and the pons in all cases, and the cerebellar cortex and subcortical white matter were hyperintense on T2-weighted and FLAIR images in all. We conclude that CDG-1a likely results from a combination of cerebellar hypoplasia and atrophy. Cerebellar volume loss with diffuse T2/FLAIR hyperintensity seems to be a peculiar association in the field of cerebellar atrophies, and may be useful to address the differential diagnosis.

MeSH terms

  • Atrophy / congenital
  • Atrophy / pathology
  • Cerebellar Diseases / congenital*
  • Cerebellar Diseases / pathology*
  • Cerebellum / pathology*
  • Child, Preschool
  • Congenital Disorders of Glycosylation / pathology*
  • Female
  • Humans
  • Infant
  • Magnetic Resonance Imaging / methods*
  • Male
  • Reproducibility of Results
  • Sensitivity and Specificity