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Journal of Child Neurology
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Agenesis of the Corpus Callosum Associated With DiGeorge-Velocardiofacial Syndrome: A Case Report and Review of the Literature

Nathan C. Kraynack, MD

Department of Pediatrics Rainbow Babies'and Children's Hospital

Robert W. Hostoffer, DO

Department of Pediatrics Rainbow Babies'and Children's Hospital

Nathaniel H. Robin, MD

Department of Pediatrics Rainbow Babies'and Children's Hospital and Center for Human Genetics Department of Genetics Case Western Reserve University, University Hospitals of Cleveland Cleveland, Ohio

We report a patient with clinical and cytogenetic findings consistent with DiGeorge-velocardiofacial syndrome and agenesis of the corpus callosum. This patient represents the first report of a case of DiGeorge-velocardiofacial syndrome associated with such a central nervous system abnormality. This case, together with previous reports in the literature, suggests that structural brain abnormalities, and in particular abnormalities of the corpus callosum, are part of the complex syndrome associated with the chromosomal microdeletion 22q11.2. We suggest that the diagnosis of DiGeorge-velocardiofacial syndrome be entertained in patients with agenesis of the corpus callosum in the context of other common clinical features of this syndrome. (J Child Neurol 1999;14:754-756).

Journal of Child Neurology, Vol. 14, No. 11, 754-756 (1999)
DOI: 10.1177/088307389901401115
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