Comments and Conclusions
• Aicardi Syndrome (AS) is characterized by infantile spasms, agenesis of the corpus collosum, and the “pathognomonic” chorioretinal lesions called “lacunae.”¹ AS patients are often mentally retarded, have skeletal malformations such as costovertebral anomalies and scoliosis, other brain abnormalities such as porencephalic cysts, and other ocular defects such as coloboma.¹
• AS occurs only in individuals with two X chromosomes and is typically not familial. Two phenotypic males have been reported to have AS; both with an XXY chromosome karyotype. For this reason, it is thought that AS in males is lethal before birth. Genetic testing has linked AS to a de novo mutation¹ in Xp22.3, but this has not been confirmed 2,7,8
• First observed by Jean Aicardi in 1965, Aicardi has since expanded the spectrum of this disease to embrace lacunae as the only constant finding amongst all AS patients.1,4 It has been confirmed that patients can have an intact corpus collosum, but a diagnosis of AS can still be rendered accurately by the presence of lacunae and infantile spasms.² Likewise, it has been documented that Aicardi syndrome can manifest without infantile spasms, as seen by a case where the patient had complete agenesis of the corpus collosum and unilateral lacunae.⁵ It seems as if the lacunae are the single most characteristic finding in AS patients.
• Lacunae appear as rounded or oval lesions ranging in size from 0.1 to several disc diameters, manifest bilaterally or unilaterally, and can appear multiple or solitary.¹ More subtle chorioretinal changes have been linked to better clinical outcome, especially if the defects are unilateral.³ In our two sisters, note that the lesions are unilateral.
• Our two sisters do not have two of the three main features of AS but do have the characteristic lacunae. As mentioned previously, other conditions such as Gardner’s syndrome (or some unusual infectious/inflammatory etiology) are possible but we consider less likely.