Comments and Conclusion (Cont’d)

• The prevalence of AS is unknown but it may account for 2% to 6% of patients ailing from infantile spasms.¹ The world’s literature suggests the incidence rates per live births for the United States and The Netherlands were 1 per 105,000 and 1 per 93,000, respectively. The frequency in the United States is greater than 853 cases, and the worldwide estimate is several thousand.⁶
• Currently treatment is based on individual symptoms and varies from case to case due to different combinations of brain and ocular defects.
• Our review of the world’s literature has revealed only one case of siblings with AS.⁹ As predicted from the reports above these two siblings were sisters. Although sisters with AS have been reported only once previously, our sisters appear unique in that they have the characteristic chorioretinal lacunae without any of the other typical findings reported in AS.
• It has been postulated that AS is due to a germinal mutation in one of the parents and hence is of genetic origin which may explain its presence in two sisters.⁹
• Forty-five years since Aicardi first reported this syndrome, the spectrum of Aicardi’s findings is still growing. Aicardi himself considers the chorioretinal lacunae to be pathognomonic for this syndome. Our two sisters exhibit the pathognomonic lacunae, but do not have any of the other typical AS clinical findings. We favor labeling the lesions in the two sisters as Aicardi Sign without Aicardi Syndrome.