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Aicardi syndrome – case report and literature review
1
Students’ Scientific Club, Department of Pediatrics and Developmental Neurology, Upper Silesian Children’s Health Center, Medical University of Silesia, Katowice, Poland
2
Department of Pediatrics and Developmental Neurology, Upper Silesian Children’s Health Center, Medical University of Silesia, Katowice, Poland
3
Department of Imaging Diagnostics and Interventional Radiology, Upper Silesian Children’s Health Center, Medical University of Silesia, Katowice, Poland
These authors had equal contribution to this work
Corresponding author
Patrycja Ochman-Pasierbek
Oddział Pediatrii i Neurologii Wieku Rozwojowego, Górnośląskie Centrum Zdrowia Dziecka im. św. Jana Pawła II, Samodzielny Publiczny Szpital Kliniczny Nr 6 Śląskiego Uniwersytetu Medycznego w Katowicach, ul. Medyków 16, 40-752 Katowice
Oddział Pediatrii i Neurologii Wieku Rozwojowego, Górnośląskie Centrum Zdrowia Dziecka im. św. Jana Pawła II, Samodzielny Publiczny Szpital Kliniczny Nr 6 Śląskiego Uniwersytetu Medycznego w Katowicach, ul. Medyków 16, 40-752 Katowice
Ann. Acad. Med. Siles. 2024;78:118-126
KEYWORDS
drug resistanceepilepsyAicardi syndromeepileptic spasmschorioretinal lacunaeagenesis of the corpus callosum
TOPICS
ABSTRACT
Aicardi syndrome (AS) is a rare congenital disorder with neurodevelopmental symptoms that in the significant majority of cases occurs in females. It is typically characterized by a classic triad of symptoms: epileptic spasms, agenesis of the corpus callosum (CC) and central chorioretinal lacunae. It is also necessary to underline that drug resistant epilepsy is the main image of AS. Intellectual disability, ocular, craniofacial and other neurodevelopmental disorders are other common defects found in these patients. This paper presents a patient with AS and refractory epilepsy. She had been treated for epilepsy with epileptic spasms from the age of 3 months, though subsequent medications did not lead to seizure freedom. Further research is needed in order to appropriately address the issue of effective treatment in these patients.
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