Cerebral morphologic distinctions between Williams and Down syndromes

Arch Neurol. 1993 Feb;50(2):186-91. doi: 10.1001/archneur.1993.00540020062019.

Abstract

Neurobehavioral studies of Williams syndrome (WS) and Down syndrome (DS) have revealed distinct profiles of cognitive strengths and weaknesses. In a previous report, we described several gross brain morphologic distinctions on magnetic resonance images between these two disorders. While the observed cerebral hypoplasia was of equal degree in the two groups, cerebellar size was entirely normal in the subjects with WS but dramatically reduced in subjects with DS. In WS, paleocerebellar vermal lobules subtended a smaller area on midsagittal sections, but neocerebellar lobules were actually larger. These results suggested important distinctions between WS and DS in terms of the action and anatomic targets of factors that alter brain development in these syndromes. The present study extends the earlier findings by focusing in detail on the morphologic features of the cerebral hemispheres, particularly cerebral gray matter. The results suggest that some frontal and temporal limbic structures are relatively preserved in WS, while some basal ganglia and diencephalic structures are relatively preserved in DS.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Brain / pathology*
  • Child
  • Diagnosis, Differential
  • Down Syndrome / diagnosis*
  • Female
  • Humans
  • Image Processing, Computer-Assisted
  • Intellectual Disability / diagnosis*
  • Magnetic Resonance Imaging*
  • Male
  • Periaqueductal Gray / pathology
  • Syndrome