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Aicardi syndrome. A clinicopathologic case report including electron microscopic observations
R L Font1, H M Marines, J Cartwright
1Department of Ophthalmology, Cullen Eye Institute, Baylor College of Medicine, Houston 77030.
Ophthalmology
|November 11, 1991
Summary
Aicardi syndrome (AIC) involves infantile spasms and brain abnormalities. This case highlights characteristic brain and eye pathology in a child with AIC, emphasizing severe developmental defects.
Area of Science:
- Neurology
- Ophthalmology
- Pathology
Background:
- Aicardi syndrome (AIC) is a rare genetic disorder.
- It is characterized by infantile spasms, agenesis of the corpus callosum, and chorioretinopathy.
Observation:
- A 2-year-old girl with congenital hydrocephaly presented with unresponsiveness and died.
- Autopsy revealed histopathologic findings characteristic of Aicardi syndrome.
Findings:
- Brain abnormalities included agenesis of the corpus callosum and micropolygyria.
- Ocular findings were severe, encompassing bilateral microphthalmia, optic nerve hypoplasia, retinal detachment, and chorioretinal lacunae.
- Scanning electron microscopy showed papillary proliferations of the retinal pigment epithelium.
Implications:
- This case underscores the critical histopathologic features of Aicardi syndrome.
- Detailed examination of brain and ocular anomalies is crucial for diagnosis.
- Understanding these pathologies aids in comprehending the syndrome's impact on development.