Epilepsy in 22q11.2 Deletion Syndrome: A Case Series and Literature Review

Publication date: Available online 26 August 2017
Source:Pediatric Neurology
Author(s): Basanagoud Mudigoudar, Sunitha Nune, Stephen Fulton, Ehab Dayyat, James W. Wheless
BackgroundThe 22q11.2 deletion syndrome affects multiple organ systems and the neurological manifestations are an important aspect of this disorder. Many are aware of cardiac anomalies associated with this uncommon genetic disorder. However, the different types of seizures, electroencephalogram (EEG) and brain magnetic resonance imaging (MRI) findings seen in this condition are not appreciated.MethodsMedical records of four patients with epilepsy due to 22q11.2 deletion syndrome were retrospectively reviewed for documentation of seizure types, EEG and brain MRI findings. In addition, we also did a literature review of previously reported cases of unprovoked seizures in this condition.ResultsReview of all published cases including our patients reveals that focal epilepsy (39/88, 44%) is the most common type followed by generalized epilepsy (24/88, 27%). Diffuse cerebral atrophy and polymicrogyria were the most frequent MRI findings.ConclusionsPatients with structural brain abnormalities, especially polymicrogyria and associated epilepsy should have a chromosomal microarray (CMA) performed to screen for the 22q11.2 deletion syndrome. Focal epilepsy and generalized epilepsy are the most frequent epilepsy types reported in this condition.



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