alexa Abstract | Improved Neurodevelopmental Outcome in a Patient with Aicardi syndrome after Palliative Surgical Resection

Journal of Rare Disorders: Diagnosis & Therapy
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Case Report Open Access


Aicardi syndrome (AS) is characterized by the triad of agenesis of the corpus callosum, infantile spasms, and chorio-retinal lacunae. AS patients often exhibit multiple seizures types, which are typically pharmacoresistant. We present the case of a 6 year-old girl with likely AS, developmental delays, and medically refractory epilepsy who was found to have diffuse MRI abnormalities characteristic of AS. Video-EEG showed interictal pattern of ‘epilepsia partialis continua’ from the right cerebral hemisphere. She underwent palliative selective right temporal lobectomy and right frontal lesionectomy aimed at ameliorating seizure burden. The surgery did not significantly improve seizure control, but resulted in notable neurodevelopmental improvements with regard to quality of life (QOL) parameters, social relatedness, and motor functioning. This reiterates the role of palliative epilepsy surgery in patients with intractable seizures when seizure burden, antiepileptic medication burden, cognitive deterioration or QOL issues are weighed in against the risks of epilepsy surgery.

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Author(s): Anuradha SinghPatricia Dugan and Deepti Anbarasan


Aicardi syndrome, Infantile spasms, Palliative surgery, Epilepsy, Orphan Diseases, Rare Autoimmune Disorders, Rare metabolic disorders

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