Abstract
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.
Full text
PDF



Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- CARPENTER M. B. Agenesis of the corpus callosum; a study of 18 cases diagnosed during life. Neurology. 1954 Mar;4(3):200–210. doi: 10.1212/wnl.4.3.200. [DOI] [PubMed] [Google Scholar]
- Dogan K., Dogan S., Lovrencić M. Ageneza korpusa kalozuma u dvoje braće. Lijec Vjesn. 1967;89(5):377–385. [PubMed] [Google Scholar]
- Galbraith G. C., Saul R. E., Gliddon J. B. Visual evoked responses in normal, acallosal and "split brain" patients. Electroencephalogr Clin Neurophysiol. 1969 Sep;27(7):690–690. doi: 10.1016/0013-4694(69)91315-7. [DOI] [PubMed] [Google Scholar]
- HARCOURT-WEBSTER J. N., RACK J. H. AGENESIS OF THE CORPUS CALLOSUM. Postgrad Med J. 1965 Feb;41:73–79. doi: 10.1136/pgmj.41.472.73. [DOI] [PMC free article] [PubMed] [Google Scholar]
- HENNEAUX J. Malformations vertébrales et division palatine chez deux soeurs, associées, chez l'une d'elles, à une agénésie du corps calleux; étude clinique, radiographique et anatomique. Schweiz Arch Neurol Psychiatr. 1956;77(1-2):433–441. [PubMed] [Google Scholar]
- MENKES J. H., PHILIPPART M., CLARK D. B. HEREDITARY PARTIAL AGENESIS OF CORPUS CALLOSUM; BIOCHEMICAL AND PATHOLOGICAL STUDIES. Arch Neurol. 1964 Aug;11:198–208. doi: 10.1001/archneur.1964.00460200094009. [DOI] [PubMed] [Google Scholar]
- NAIMAN J., FRASER F. C. Agenesis of the corpus callosum; a report of two cases in siblings. AMA Arch Neurol Psychiatry. 1955 Aug;74(2):182–185. doi: 10.1001/archneurpsyc.1955.02330140066013. [DOI] [PubMed] [Google Scholar]
- SHELDON P., PEYMAN A. The radiological appearances of agenesis of the corpus callosum. J Neurol Neurosurg Psychiatry. 1953 May;16(2):117–123. doi: 10.1136/jnnp.16.2.117. [DOI] [PMC free article] [PubMed] [Google Scholar]
- ZELLWEGER H. Agenesia corporis callosi. Helv Paediatr Acta. 1952 Apr;7(2):136–155. [PubMed] [Google Scholar]
- ZIEGLER E. Bosartige, familiäre, frühinfantile Krampfkrankheit, teilweise verbunden mit familiärer Balkenaplasie. Helv Paediatr Acta. 1958 Apr;13(2):169–184. [PubMed] [Google Scholar]