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      NEUROIMAGE Year : 2023  |  Volume : 71  |  Issue : 5  |  Page : 1114-1115

Teaching Neuroimage – Aicardi Syndrome: A Triad of Epileptic Spasms, Agenesis of Corpus Callosum, and Chorio-Retinal Lacunae

Aakash Mahesan1, Gautam Kamila1, Prabhav Puri2, Vinod Kumar2, Atin Kumar3, Prashant Jauhari1, Biswaroop Chakrabarty1, Sheffali Gulati1
1 Department of Pediatrics, Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, AIIMS, New Delhi, India
2 Department of Ophthalmology, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, AIIMS, New Delhi, India
3 Department of Radiodiagnosis, AIIMS, New Delhi, India

Date of Submission11-Jul-2023Date of Decision02-Sep-2023Date of Acceptance02-Sep-2023Date of Web Publication18-Oct-2023

Correspondence Address:
Sheffali Gulati
Department of Pediatrics, Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders Child Neurology Division, AIIMS, New Delhi – 110 029
India

Source of Support: None, Conflict of Interest: None

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DOI: 10.4103/0028-3886.388086

How to cite this article:
Mahesan A, Kamila G, Puri P, Kumar V, Kumar A, Jauhari P, Chakrabarty B, Gulati S. Teaching Neuroimage – Aicardi Syndrome: A Triad of Epileptic Spasms, Agenesis of Corpus Callosum, and Chorio-Retinal Lacunae. Neurol India 2023;71:1114-5
How to cite this URL:
Mahesan A, Kamila G, Puri P, Kumar V, Kumar A, Jauhari P, Chakrabarty B, Gulati S. Teaching Neuroimage – Aicardi Syndrome: A Triad of Epileptic Spasms, Agenesis of Corpus Callosum, and Chorio-Retinal Lacunae. Neurol India [serial online] 2023 [cited 2023 Oct 19];71:1114-5. Available from: https://www.neurologyindia.com/text.asp?2023/71/5/1114/388086

A 4-month-old baby girl presented with clusters of jerky movements of limbs and neck (epileptic spasm) for the past 1 month and global developmental delay. There was no history of perinatal asphyxia. Examination revealed central hypotonia with left eye micro-ophthalmia, retinal detachment, and peripapillary chorio-retinal lacunae in the right eye [Figure 1]b. MRI Brain showed colpocephaly, asymmetrical cerebral hemispheres, agenesis of corpus callosum, cortical malformation, and inter-hemispheric cystic lesion in right parasagittal deep frontal lobe [Figure 1]c. On electroencephalography (EEG), bilateral asynchronous multi-focal discharges and burst suppression consistent with modified hypsarhythmia, and dissociation between the two hemispheres (”split-brain” EEG), were observed [Figure 1]a.

Figure 1: (a) EEG: Split brain EEG pattern showing asynchronous large amplitude multifocal discharges and burst suppression, with dissociation between the two hemispheres (b) RetCam imaging (right eye): Peripapillary chorio-retinal lacunae (c) MRI Brain: Dilated right occipital horn of lateral ventricle with asymmetry of cerebral hemispheres and colpocephaly (red arrow), right parasagittal inter-hemispheric cyst (yellow star), and corpus callosum agenesis (blue arrow)

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Aicardi syndrome is an X-linked dominant disorder, which is almost lethal in males. The presence of the classic triad is diagnostic for Aicardi syndrome. The presence of two of the classic triad plus at least two other major or supporting features is strongly suggestive of the diagnosis of Aicardi syndrome.[1] Classic triad: Agenesis of the corpus callosum, distinctive chorio-retinal lacunae, and epileptic spasms. Major features: Cortical malformations (mostly polymicrogyria), periventricular and subcortical heterotopia, intra-cranial cysts (cysts around third cerebral ventricle and/or choroid plexus), and optic disc/nerve coloboma or hypoplasia. Supporting features: Vertebral and rib abnormalities, microphthalmia, “split-brain” EEG, gross cerebral hemispheric asymmetry, vascular malformations or vascular malignancy, and prominent premaxilla with an upturned nasal tip and sparse lateral eyebrows. The management strategy involves usage of multiple anti-seizure medications including adrenocorticotrophic hormone for adequate spasm control and multi-disciplinary supportive care. No strong genetic candidates have been identified till date despite advancement in the field of molecular genetics.[2]

Declaration of patient consent

All the appropriate consent forms have been obtained by the authors including the consent for images and other clinical information reported in the journal. All efforts have been made to conceal identity of the patient. The parents however understand that anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 

  References 
1.Sutton VR, Van den Veyver IB. Aicardi Syndrome. In: Adam MP, Mirzaa MP, Pagon RA, Wallace SE, Bean LJH, Gripp KW, et al, editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2023.  
    2.Wong BKY, Sutton VR. Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination. Am J Med Genet C Semin Med Genet 2018;178:423-1.  
    
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