A Case of Aicardi Syndrome with Positive Outcomes Following Hemispherectomy
Objective:
To highlight a case of Aicardi Syndrome in a patient with improved seizure control after undergoing hemispherectomy.
Background:
Aicardi syndrome (AS) is a rare X-linked genetic disorder characterized by infantile spasms, corpus callosal agenesis and chorioretinal lacunae. Most patients have shortened life expectancy, median survival of 18 years of age, psychomotor delay, and intractable epilepsy.
Design/Methods:
This is a case report of a 27 year old female with AS, diagnosed at age 3, agenesis of corpus callosum and heterotopic gray matter and polymicrogyria predominantly in the left frontal lobe. Patient initially diagnosed with infantile spasms at age 3 weeks. EEG showed hypsarrhythmia responsive to vigabatrin. At age 3, patient had right upper extremity and lower extremity clonic seizures without impaired awareness. Patient trialed on carbamazepine, oxcarbazepine, divalproex, levetiracetam, phenobarbital, phenytoin, clobazam, and topiramate. At presurgical evaluation, seizure frequency increased from biweekly to 4 times daily, each lasting five to ten minutes. Medication regimen consisted of oxcarbazepine 900 mg BID, brivaracetam 150 mg BID, cenobamate 200 mg daily, and cannabidiol 2 mL/kg BID. In October 2022, at age 24, patient had Wada test demonstrating right hemisphere supporting language and memory, subsequently undergoing left-sided functional hemispherectomy.
Results:
Post procedure, patient seizure frequency decreased significantly to twice yearly with 1 episode of isolated right hand shaking lasting less than one minute. In light of dramatic improvement in seizure frequency and severity, she weaned off multiple antiepileptic medications, now on cenobamate 300 mg and klonopin 0.5 mg daily. Positive nonseizure outcomes included improved verbal ability, ambulation, and behavior, as well as quality of life and functioning, with resolution of lethargy secondary to antiepileptics.
Conclusions:
This case of AS demonstrates the spectrum of this rare disorder, with our patient unique in terms of longevity (age 27), and positive clinical response to epilepsy surgery after becoming refractory to multiagent pharmacotherapy.
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