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Orbital ectopic brain tissue in Aicardi syndrome
Maria Carolina Ortube1, Jorge Lazareff, Harry V Vinters
1Jules Stein Eye Institute, Department of Ophthalmology, University of California, Los Angeles, 90095, USA.
The Journal of Craniofacial Surgery
|September 7, 2010
Summary
Aicardi syndrome, a rare brain disorder, can present with orbital heterotopic brain tissue, not just encephaloceles. This case highlights a unique orbital cyst in a patient with Aicardi syndrome.
Area of Science:
- Neuroscience
- Ophthalmology
- Genetics
Background:
- Aicardi syndrome is a rare genetic disorder characterized by infantile spasms, agenesis of the corpus callosum, and distinctive optic disc abnormalities.
- Key features include hypsarrhythmia on EEG and chorioretinal lacunae, presenting a significant diagnostic challenge.
Observation:
- A 3-year-old female with Aicardi syndrome exhibited progressive left eye proptosis and reduced visual acuity.
- Ocular examination revealed exotropia, a large optic nerve head, and chorioretinal lacunae. MRI confirmed a retrobulbar cyst and microphthalmia.
Findings:
- Surgical resection of the orbital cyst revealed fragments of neuroglial and meningothelial tissues with psammoma bodies, confirming heterotopic brain tissue.
- Unlike previous reports attributing orbital cysts to encephaloceles, this case demonstrated heterotopic brain tissue without an encephalocele.
Implications:
- This case expands the understanding of orbital manifestations in Aicardi syndrome, presenting a rare instance of heterotopic brain tissue.
- It underscores the importance of thorough histopathological examination for accurate diagnosis and management of orbital abnormalities in Aicardi syndrome.
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