Título / Title

AICARDI SYNDROME CASE REPORT

Introdução / Purpose

Aicardi Syndrome (AS) is characterized as a rare syndrome identified in the presence of three classic features: corpus callosum agenesis, chorioretinal lacunae and infantile spasms. It mainly affects women.

Material e Método / Methods

The aim of this clinical case is to describe a case of AS in a twin patient with 2 months old.

Resultados / Results

Female patient, 2 months old, twin dichorionic and diaminiotic. IG birth 34+5, birth weight 1505g. Complete prenatal care. Negative maternal serologies. Cesarean delivery. Biomicroscopy does not show changes in the anterior segment of the eyes. Fundoscopy in the right eye shows total retinal detachment with multiple tears in the periphery, in the left eye it shows multiple tears in the periphery, chorioretinal lacuna, tilted optical disc, thinning of the vessels and attached retina. On fluorescein angiography in the right eye is impractical, left eye extensive area of hypofluorescence in the upper region suggestive of avascular region. Magnetic resonance imaging shows accentuated ventricle dilation, significant thinning of the brain parenchyma, effacement of sulci and turns, absence of corpus callosum and the brainstem has a reduction in its dimensions. Due to the poor visual prognosis, surgical approach in the right eye is not indicated and laser photocoagulation is indicated in the left eye.

Discussão e Conclusões / Conclusion

AS is a rare disease, occurring exclusively in girls, except for one report in a boy, with chromosome 47, XXY. The aetiology of AS is not fully understood. A gene for AS has not been identified, but several observations support a hypothesis that AS is caused by de novo pathogenic variants in a gene on the X chromosome. Diagnosis is based exclusively on clinical findings and the prognosis of this disease is reserved. The patient described has the classic triad for diagnosis in addition to cortical and ventricular alterations. What is unprecedented in this case report are the multiple peripheral tears in both eyes.

Palavras Chave

Aicardi Syndrome, corpus callosum agenesis, chorioretinal lacunae, infantile spasms

Area

CLINICAL RETINA