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Aicardi's syndrome. A clinicopathologic study
Archives of Ophthalmology (Chicago, Ill. : 1960)
|February 1, 1984
Summary
Aicardi syndrome, a rare genetic disorder, presents with brain abnormalities like polymicrogyria and corpus callosum agenesis. Ocular defects include atypical colobomas and retinal pigment epithelium changes, offering insights into pathogenesis.
Area of Science:
- Neurology
- Ophthalmology
- Genetics
Background:
- Aicardi syndrome is a rare genetic disorder affecting primarily females.
- Characterized by specific neurological and ocular abnormalities.
- Early diagnosis and understanding of pathogenesis are crucial.
Observation:
- A 9-week-old female infant presented with classic Aicardi syndrome features.
- Autopsy at 21 months revealed polymicrogyria and agenesis of the corpus callosum.
- Histopathology showed ocular defects including atypical colobomas and retinal pigment epithelium abnormalities.
Findings:
- The brain exhibited polymicrogyria and agenesis of the corpus callosum.
- Ocular findings included bilateral atypical colobomatous defects.
- Specific retinal pigment epithelium changes and ectatic scleral channels were noted in the left eye.
Implications:
- This case provides detailed neuropathological and ophthalmological findings in Aicardi syndrome.
- Understanding these defects aids in discussing the syndrome's pathogenesis.
- Further research can improve diagnostic and therapeutic strategies for Aicardi syndrome.