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[Aicardi syndrome with unilateral ocular involvement]
A Tabary1, V Vangheluwe, S Defoort-Dhellemmes
1Service d'explorations fonctionnelles de la vision, hôpital Roger-Salengro, CHRU de Lille, rue du Professeur-Émile-Laine, 59037 Lille cedex, France. aurtabary@yahoo.fr
Journal Francais D'Ophtalmologie
|November 28, 2012
Summary
Aicardi syndrome, a severe neurological disorder, can present with unilateral chorioretinal lacunae. This ocular finding does not exclude the diagnosis when accompanied by psychomotor retardation and agenesis of the corpus callosum.
Area of Science:
- Neurology
- Ophthalmology
- Genetics
Background:
- Aicardi syndrome is a rare, severe congenital neurological disorder primarily affecting females.
- It is characterized by a triad of infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae.
Observation:
- A retrospective study of eight children with Aicardi syndrome revealed that three presented with unilateral chorioretinal lacunae.
- Diagnosis in these cases was established before six months of age, supported by fundus examination, neurological assessment, and MRI.
Findings:
- Unilateral chorioretinal lacunae can be a feature of Aicardi syndrome.
- The presence of microcephaly, chorioretinal dysplasia, and mental retardation warrants consideration of Aicardi syndrome in differential diagnoses.
Implications:
- Unilateral ocular abnormalities do not preclude an Aicardi syndrome diagnosis.
- Early diagnosis is crucial and can be supported by neuroimaging (MRI) and psychomotor development assessment.
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