Korean J Ophthalmol.  2004 Jun;18(1):79-83. 10.3341/kjo.2004.18.1.79.

An Atypical Case of Aicardi Syndrome with Favorable Outcome

• Lee SW
• Kim KS
• Cho SM
• Lee SJ

• KMID: 1115788
• DOI: http://doi.org/10.3341/kjo.2004.18.1.79

Abstract

Aicardi syndrome is a severe congenital disorder characterized by infantile spasms, chorioretinal lacunae, and agenesis or hypogenesis of the corpus callosum. A 6 month old female had developed abnormal eye movement and seizures of the complex partial type and myoclonic type. MRI pictures of the patient revealed the presence of genu associated with agenesis of the rest of corpus callosum. A funduscopic examination revealed bilateral small, solitary, pale areas with sharp borders, some of which had minimal surrounding pigmentation (chorioretinal lacunae), especially clustered around the disc, and they were more prominent on the left side. We report here on the unusual findings of a complex partial seizure, myoclonic seizure and the atypical EEG finding in addition to the well-known characteristic clinical and imaging findings of a patient with Aicardi syndrome.

Keyword

Aicardi syndrome; chorioretinal lacunae; complex partial seizure; myoclonic seizure

MeSH Terms

Anticonvulsants/therapeutic use
Arachnoid Cysts/*pathology
Corpus Callosum/*abnormalities
Electroencephalography
Epilepsies, Myoclonic/drug therapy/*pathology
Epilepsies, Partial/drug therapy/*pathology
Female
Humans
Infant
Magnetic Resonance Imaging
Retinal Diseases/*pathology
Spasms, Infantile/drug therapy/*pathology
Syndrome

Figure

• 

  Fig. 1 Bilateral variable size, discrete, pale areas with sharp borders, some of which had a minimal surrounding pigmentation. (Chorioretinal lacunae, black arrow). They are especially clustered around the disc, and they are more prominent on the left eye. (Right eye (A), Left eye(B))

• 

  Fig. 2 A sagittal midline T1-weighted MR image shows hypogenesis of the corpus callosum (black arrow). The genu of corpus callosum can be observed. (white arrow).

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  Fig. 3 An axial T2-weighted MR imaged show a large multi-lobulated midline cystic mass, that is lodged at the interhemispheric area. There are bands of right subependymal gray matter heterotopia. (white arrow)

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