Chorioretinal Lacunae in Aicardi's Syndrome: Key for the Diagnosis

A 5-month-old girl presented to the emergency department with infantile spasms. An electroencephalography (EEG) revealed hypsarrhythmia and a brain magnetic resonance imaging (MRI) showed partial agenesis of the corpus callosum, multiple subependymal cysts, frontotemporal cerebral atrophy, and an arachnoid cyst in the posterior fossa ([Fig. 1]). The ophthalmologist identified multiple chorioretinal lacunae (round depigmented areas in the retina) in both eyes ([Fig. 2]). The patient was diagnosed with Aicardi's syndrome. The infantile spasms disappeared after the start of vigabatrin and her EEG improved evidently. At the age of 2 years, seizures started again. Now at the age of 4 years, she has occasional seizures despite treatment with valproate. Recently, lamotrigine was added. She attends a normal primary school.

Fig. 1 MR images of our patient at the age of 5 months. Left: sagittal FLAIR-weighted image showing partial agenesis of the corpus callosum and an arachnoid cyst in the posterior fossa. Middle: axial T2-weighted image showing frontotemporal atrophy, midline cysts and a hemangioma on the left forehead. Right: axial FLAIR weighted image showing the midline cysts and the forehead hemangioma. FLAIR, fluid-attenuated inversion recovery; MR, magnetic resonance.

Fig. 2 Fundus photographs showing the chorioretinal lacunae: round depigmented areas with variable hyperpigmentation at the borders. Left: fundus of right eye. Right: fundus of left eye.

Aicardi's syndrome is a neurodevelopmental disorder that classically consists of a triad of features such as infantile spasms, total or partial agenesis of the corpus callosum, and chorioretinal lacunae.[1] Several other radiological features can occur, including intracerebral cysts, as in our patient. Seizure type at the beginning is infantile spasms, but medically refractory epilepsy with a variety of seizure types can develop over time.[2] Chorioretinal lacunae are highly specific for Aicardi's syndrome. Therefore, retinal examination is often essential for confirming the diagnosis.

• References

• 1 Aicardi J, Levebre J, Lerique-Koechlin A. A new syndrome: spasms in flexion, callosal agenesis, ocular abnormalities. Electroencephalogr Clin Neurophysiol 1965; 19: 609-610
• 2 Sutton VR, Van den Veyver IB. Aicardi syndrome. In: Adam MP, Ardinger HH, Pagon RA. , et al, eds. GeneReviews. Seattle, WA: University of Washington, Seattle; 1993-2020