Diagnostic approach to Aicardi syndrome: A case report

Abstract

Aicardi syndrome is an X-linked-dominant genetic condition that is present almost exclusively in females. To diagnose Aicardi syndrome, the classic triad of agenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae must be present. Here, we described a case of a female newborn baby delivered at 36 weeks of gestation that arrived at the emergency department with stiffening of arms and legs; therefore, an electroencephalogram was performed, showing generalized polypots confirming infantile spasms. Moreover, magnetic resonance was performed, showing complete agenesis of the corpus callosum. The patient was then transferred for an ophthalmoscopic examination, which evidenced multiple hypopigmented chorioretinal lesions corresponding to chorioretinal lacunae. Based on the clinical and radiological findings, the diagnosis of Aicardi syndrome was established, and treatment with anticonvulsive therapy and physiotherapy was initiated. This case report highlights the main characteristics that clinicians should consider to suspect this rare genetic condition, emphasizing the imaging and electroencephalographic findings.

Keywords: Agenesis of the corpus callosum; Aicardi syndrome; Chorioretinal lacunae; Electroencephalogram; Infantile spasms; Magnetic resonance imaging; Neurodevelopmental disorder.

Fig. 1

Brain MRI. T1-weighted image shows agenesis of corpus callosum (orange box in A) and a multiseptated interhemispheric cyst (orange box in B). T2-weighted image shows a left coloboma cyst located in the posterior portion of the left eyeball (orange arrows in C).

Fig. 2

Abnormal EEG showing frequent paroxysmal activity throughout the entire recording, characterized by generalized polypots (high voltage and slow waves located in the left hemisphere), which confirmed the diagnosis of infantile spasms.

Fig. 3

Illustration depicting the patient's ophthalmoscopy. Bilateral chorioretinal lacunae are shown.