Agenesis of the corpus callosum in Turner's syndrome: report of a case and review of the literature

Acta Neurol Taiwan. 2008 Sep;17(3):194-8.

Abstract

Turner's syndrome (TS) is a genetic disorder caused by loss of entire or a substantial part of the X-chromosome, but association with central nervous system (CNS) abnormalities is rarely reported. A 32-year-old female with TS was found to have agenesis of the corpus callosum (ACC) and various clinical features including coarctation of aorta, hypertelorism, small jaw, short and webbed neck, cubitus valgus, and absence of the uterus. Karyotype analysis revealed X monosomy cell line (45, X). There have been only three other cases of TS associated with ACC. High prenatal lethality of TS fetuses with congenital CNS malformations may decrease the incidence of this association. Neuropsychological studies showed a normal intelligence neither prominent learning disability nor discrepancy between verbal and non-verbal items.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Agenesis of Corpus Callosum*
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Turner Syndrome / pathology*