Abstracts

Rationale: : Aicardi syndrome is a rare neurodevelopmental disorder characterized by the triad: agenesis of corpus callosum, distinctive chorioretinal lacunae, and infantile spasms. The clinical picture varies and may include other malformations in brain, eyes and skeleton. Aicardi syndrome occurs in females and 47XXY males and is probably caused by a de novo mutation in an X-linked gene. Epidemiological data is scarce. Norway is a small country with a well developed health system, making epidemiological studies of rare diseases feasible and reliable.Methods: In order to identify patients with Aicardi syndrome, we contacted all Norwegian pediatric and neurological departments. We also made announcements at relevant meetings and in medical journals. After the patients were identified, patients were examined and the medical records were scrutinized for clinical information.Results: Six females with Aicardi syndrome were identified. Based on a population of 4 923 000, a point prevalence 01.01.2011 is estimated to 0.24/100 000 females. Five of the six patients had epilepsy. They had a multifocal seizure disorder with multiple seizure types in childhood. In three of the five patients, the epilepsy improved by the age of 2, 12, and 21 years, respectively. Two adult patients still suffer daily seizures despite treatment with several AEDs, VNS and ketogenic diet. All six patients are mentally retarded with a severe neuromuscular scoliosis.Conclusions: The study confirms that Aicardi syndrome is a rare disorder. In early childhood the epilepsy is most often severe, but may in some patients improve by age. However, infantile spasms and epilepsy is not compulsory. Neuromuscular scoliosis appears to be more frequent than previously reported.