Aicardi syndrome: Clinical spectrum of a rare disorder
Aicardi syndrome is a rare genetic syndrome reported exclusively in females, with reported incidence of approximately 1 in 1.1 lakh live births. The clinical condition comprises of triad of infantile spasms, and mental retardation with neuroimaging findings of complete corpus callosum, agenesis and...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2025-03-01
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| Series: | Journal of Family Medicine and Primary Care |
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| Online Access: | https://journals.lww.com/10.4103/jfmpc.jfmpc_1065_24 |
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| author | Sunisha Jakhar Dinkar Yadav Kapil Bhalla Komal Jindal Rohan Acharya |
| author_facet | Sunisha Jakhar Dinkar Yadav Kapil Bhalla Komal Jindal Rohan Acharya |
| author_sort | Sunisha Jakhar |
| collection | DOAJ |
| description | Aicardi syndrome is a rare genetic syndrome reported exclusively in females, with reported incidence of approximately 1 in 1.1 lakh live births. The clinical condition comprises of triad of infantile spasms, and mental retardation with neuroimaging findings of complete corpus callosum, agenesis and presence of chorioretinal degeneration observed during on eye examination. Here, authors reported the case of a 2-year-old female who exhibited typical clinical features, including seizures, developmental delay, and distinctive ocular abnormalities. MRI showed corpus callosum agenesis, an interhemispheric fissure cyst, and polymicrogyria. EEG depicted high voltage, polymorphic rhythm with superimposed multifocal spikes and wave discharges. Fundus examination revealed chorioretinal degeneration. This case emphasizes the importance of early recognition, accurate diagnosis, and comprehensive management strategies to optimizing outcomes for individuals with Aicardi syndrome. |
| format | Article |
| id | doaj-art-8a635ca80916477da8b725f40c2421f0 |
| institution | OA Journals |
| issn | 2249-4863 2278-7135 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Family Medicine and Primary Care |
| spelling | doaj-art-8a635ca80916477da8b725f40c2421f02025-08-20T02:09:37ZengWolters Kluwer Medknow PublicationsJournal of Family Medicine and Primary Care2249-48632278-71352025-03-011431145114610.4103/jfmpc.jfmpc_1065_24Aicardi syndrome: Clinical spectrum of a rare disorderSunisha JakharDinkar YadavKapil BhallaKomal JindalRohan AcharyaAicardi syndrome is a rare genetic syndrome reported exclusively in females, with reported incidence of approximately 1 in 1.1 lakh live births. The clinical condition comprises of triad of infantile spasms, and mental retardation with neuroimaging findings of complete corpus callosum, agenesis and presence of chorioretinal degeneration observed during on eye examination. Here, authors reported the case of a 2-year-old female who exhibited typical clinical features, including seizures, developmental delay, and distinctive ocular abnormalities. MRI showed corpus callosum agenesis, an interhemispheric fissure cyst, and polymicrogyria. EEG depicted high voltage, polymorphic rhythm with superimposed multifocal spikes and wave discharges. Fundus examination revealed chorioretinal degeneration. This case emphasizes the importance of early recognition, accurate diagnosis, and comprehensive management strategies to optimizing outcomes for individuals with Aicardi syndrome.https://journals.lww.com/10.4103/jfmpc.jfmpc_1065_24chorioretinal degenerationcorpus callosum agenesisinfantile spasminterhemispheric fissure cyst |
| spellingShingle | Sunisha Jakhar Dinkar Yadav Kapil Bhalla Komal Jindal Rohan Acharya Aicardi syndrome: Clinical spectrum of a rare disorder Journal of Family Medicine and Primary Care chorioretinal degeneration corpus callosum agenesis infantile spasm interhemispheric fissure cyst |
| title | Aicardi syndrome: Clinical spectrum of a rare disorder |
| title_full | Aicardi syndrome: Clinical spectrum of a rare disorder |
| title_fullStr | Aicardi syndrome: Clinical spectrum of a rare disorder |
| title_full_unstemmed | Aicardi syndrome: Clinical spectrum of a rare disorder |
| title_short | Aicardi syndrome: Clinical spectrum of a rare disorder |
| title_sort | aicardi syndrome clinical spectrum of a rare disorder |
| topic | chorioretinal degeneration corpus callosum agenesis infantile spasm interhemispheric fissure cyst |
| url | https://journals.lww.com/10.4103/jfmpc.jfmpc_1065_24 |
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