Galactosemia: evaluation with MR imaging

Radiology. 1992 Jul;184(1):255-61. doi: 10.1148/radiology.184.1.1319076.

Abstract

The cerebral findings at magnetic resonance imaging in 67 transferase-deficient galactosemic patients (36 female, 31 male; median age, 10 years) are reported. Twenty-two patients had mild cerebral atrophy, eight had cerebellar atrophy, and 11 had multiple small hyperintense lesions in the cerebral white matter on T2-weighted images. The classic galactosemic patients (those without measurable transferase activity) older than 1 year of age did not show the normal dropoff in peripheral white matter signal intensity on intermediate- and T2-weighted images. The authors postulate that this abnormal signal intensity is due to altered myelin formation secondary to the inability to make sufficient and/or normal galactocerebroside.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Brain Diseases / diagnosis*
  • Child
  • Child, Preschool
  • Diagnosis, Differential
  • Galactose / metabolism
  • Galactosemias / diagnosis*
  • Galactosemias / enzymology
  • Humans
  • Infant
  • Infant, Newborn
  • Magnetic Resonance Imaging*
  • Phosphotransferases / deficiency
  • Racemases and Epimerases / deficiency
  • Transferases / deficiency

Substances

  • Transferases
  • Phosphotransferases
  • Racemases and Epimerases
  • Galactose