Microphthalmia and Infantile Spasms Leading to the Diagnosis of Aicardi Syndrome: A Case Report and Literature Review of a Rare Entity

Aicardi syndrome is a rare neurodevelopmental disorder characterized by the triad of corpus callosum agenesis, chorioretinal lacunae, and infantile spasms. Clinical presentation may vary widely, and ocular abnormalities can precede neurological symptoms. We report a case of a four-month-old female infant, initially referred for evaluation of unilateral microphthalmia and mild developmental delay. Ophthalmological examination revealed marked right microphthalmia, chorioretinal lacunae, and an optic disc coloboma in the left eye. Approximately one month later, she presented with new-onset, clustered episodes of axial flexion spasms, characteristic of infantile spasms. An electroencephalogram showed hypsarrhythmia, leading to a diagnosis of West syndrome. Subsequent brain magnetic resonance imaging revealed complete agenesis of the corpus callosum, multiple interhemispheric and intraventricular cysts, and a posterior fossa cyst. The constellation of these findings confirmed the diagnosis of Aicardi syndrome. The definitive diagnosis relies on integrating ophthalmological findings with neuroimaging and electrophysiological studies. Early recognition of the triad, especially when atypical ocular features such as unilateral severe microphthalmia act as an early presenting feature preceding the onset of spasms, allows for prompt initiation of anti-epileptic therapy and coordinated multidisciplinary care, which is essential for managing the severe developmental and neurological challenges associated with this rare syndrome.