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Choroidal lacunae and Aicardi's syndrome
Metabolic, Pediatric, and Systemic Ophthalmology
|January 1, 1982
Summary
Aicardi syndrome, a rare neurological disorder, presents with infantile spasms and distinctive choroidal lacunae. Diagnosis requires neuroimaging to confirm agenesis of the corpus callosum, not solely ocular findings.
Area of Science:
- Neurology
- Ophthalmology
- Pediatrics
Background:
- Aicardi syndrome is a rare genetic disorder affecting primarily females.
- It is characterized by a triad of infantile spasms, agenesis of the corpus callosum, and characteristic retinal abnormalities.
Observation:
- This report describes three children presenting with flexion spasms.
- Ophthalmologic examination revealed choroidal lacunae in all three cases.
- Aicardi syndrome was diagnosed in two of the children.
Findings:
- Diagnosis of Aicardi syndrome necessitates neuroimaging confirmation.
- Findings include partial or total agenesis of the corpus callosum.
- Other interhemispheric structural anomalies may also be present.
- Choroidal lacunae, while suggestive, are not pathognomonic for Aicardi syndrome.
Implications:
- Early diagnosis of Aicardi syndrome is crucial for timely intervention and management.
- Neuroimaging plays a vital role in confirming the diagnosis.
- Ophthalmologic findings like choroidal lacunae should prompt further neurological investigation.