Seizures and EEG findings in an adult patient with DiGeorge syndrome: A case report and review of the literature |
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Authors: | Walter Gonz lez,Ramon Edmundo D. Bautista |
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Affiliation: | aDepartment of Neurology, University of Florida Health Science Center/Jacksonville, Jacksonville, FL, United States |
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Abstract: | This is the first case report to describe the EEG findings in a patient with DiGeorge syndrome who survived into adulthood. The patient developed generalized tonic–clonic seizures when she was 9 years old and these were associated with hypocalcemia. Despite treatment with calcium, seizures persisted and the patient required antiepileptic medications. She was eventually controlled with oxcarbazepine. An MRI of the head was normal. An EEG showed independent spike and wave discharges emanating from the left temporal and right frontal region. The presence of focal findings on EEG, the lack of complete response to calcium therapy, and the need for antiepileptic drug therapy indicate that some of these patients may be inherently predisposed to developing epilepsy. |
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Keywords: | 22q11.2 deletion syndrome DiGeorge syndrome EEG Epilepsy Hypocalcemia Seizures |
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