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Aicardi Syndrome: A Rare Cause of Infantile Spasms |
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Rituparna Das, Amolpreet Kumar Saini, Namdev Seth 1. Assistant Professor, Department of Radiology, MGM Medical College, Kishanganj, Bihar, India. 2. Junior Resident, Department of Radiology, MGM Medical College, Kishanganj, Bihar, India. 3. Assistant Professor, Department of Radiology, All India Institute of Medical Sciences, Gorakhpur, Uttar Pradesh, India. |
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Correspondence Address : Dr. Namdev Seth, Assistant Professor, Department of Radiology, All India Institute of Medical Sciences, Gorakhpur-273008, Uttar Pradesh, India. E-mail: Namdevseth@gmail.com |
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| ABSTRACT |  | ||||||
: Infantile spasms may occur in isolation or as part of multiple neurodevelopmental syndromes. We report an eight-month-old female infant presenting with infantile spasms, developmental delay, and characteristic features of Aicardi syndrome. Electroencephalogram (EEG) showed asynchronous multifocal epileptiform abnormalities, while brain Magnetic Resonance Imaging (MRI) demonstrated corpus callosum agenesis, midline cysts, cortical malformations, and posterior fossa anomalies. Ophthalmoscopy confirmed chorioretinal lacunae. Brain MRI and EEG remain crucial complementary modalities for early diagnosis of infantile spasms and underlying aetiologies. This case reinforces consideration of Aicardi syndrome in female infants presenting with spasms and characteristic ocular findings. | |||||||
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| Keywords : Corpus callosum agenesis, Dandy Walker malformation, Holoprosencephaly MRI, Neurodevelopmental disorder | |||||||
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DOI and Others :
DOI: 10.7860/IJARS/2026/81697.3086
Date of Submission: Jun 30, 2025 Date of Peer Review: Oct 31, 2025 Date of Acceptance: Jan 01, 2026 Date of Publishing: Mar 01, 2026 AUTHOR DECLARATION: • Financial or Other Competing Interests: None • Was informed consent obtained from the subjects involved in the study? Yes • For any images presented appropriate consent has been obtained from the subjects. Yes PLAGIARISM CHECKING METHODS: • Plagiarism X-checker: Jul 04, 2025 • Manual Googling: Oct 30, 2025 • iThenticate Software: Dec 31, 2025 (6%) ETYMOLOGY: Author Origin EMENDATIONS: 6 |
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Case report
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