Article Text

Download PDFPDF
Agenesis of the Corpus Callosum in Two Sisters
  1. Yehuda Shapira*,
  2. Tirza Cohen


    Two sisters are described. They are offspring of Arabic parents who are both first and second cousins, through both sets of grandparents; additionally the father's parents are first cousins. The diagnosis of agenesis of the corpus callosum in the propositae was made by the characteristic picture on the pneumoencephalogram.

    The clinical symptoms in the two sisters varied considerably. The older sister had shown delayed psychomotor development in infancy, mild mental retardation, and developed seizures at 7 years of age of both the grand mal and akinetic types. Her physical and neurological examination did not show any abnormalities. The EEG was severely abnormal with slow wave activity over the posterior parts of the brain and focal spiking. The younger sister presented at 6 months of age with failure to thrive, generalized hypotonia, but without seizures. Her EEG was within normal limits.

    This anomaly was probably transmitted by an autosomal recessive gene. The clinical and genetic aspects of this syndrome are discussed.

    Statistics from

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.


    • * Division of Pediatric Neurology, UCLA Medical Center, Los Angeles, USA.

    • Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel.