2. Academic Validation
  3. Aicardi syndrome: an epidemiologic and clinical study in Norway

Aicardi syndrome: an epidemiologic and clinical study in Norway

  • Pediatr Neurol. 2015 Feb;52(2):182-6.e3. doi: 10.1016/j.pediatrneurol.2014.10.022.
Caroline Lund 1,  Marit Bjørnvold 2,  Mia Tuft 2,  Hrisimir Kostov 3,  Oddveig Røsby 4,  Kaja K Selmer 4
Affiliations

Affiliations

  • 1 National Centre for Rare Epilepsy-Related Disorders, Oslo University Hospital and the University of Oslo, Oslo, Norway. Electronic address: [email protected].
  • 2 National Centre for Rare Epilepsy-Related Disorders, Oslo University Hospital and the University of Oslo, Oslo, Norway.
  • 3 National Centre for Epilepsy, Oslo University Hospital and the University of Oslo, Oslo, Norway.
  • 4 Department of Medical Genetics, Oslo University Hospital and the University of Oslo, Oslo, Norway.
PMID: 25443581 DOI: 10.1016/j.pediatrneurol.2014.10.022
Abstract

Background: Aicardi syndrome is a rare neurodevelopmental disorder. The main diagnostic features are agenesis of corpus callosum, chorioretinal lacunae, and infantile spasms. The outcome is in general severe, with poor cognitive development and difficult-to-treat epilepsy. The aim of this study was to perform a nationwide epidemiologic survey of patients with Aicardi syndrome and describe their clinical features. Norway is a small country with a well-developed health system, making epidemiologic studies of rare diseases feasible and reliable.

Methods: We aimed at identifying all patients diagnosed with Aicardi syndrome in Norway. Prevalence of Aicardi syndrome was calculated for January 1, 2011. All available patients were examined, and their medical records were scrutinized.

Results: Six females aged 7 to 27 years with the diagnosis of Aicardi syndrome were identified. With a female population of 949,578 in ages 0 to 29 years, we found an age-adjusted prevalence of 0.63 per 100,000 females. One patient never had epileptic seizures. The other five had all experienced infantile spasms, all had at some point hypsarrhythmia in electroencephalography, two had a clear picture of suppression burst, whereas three had periods of suppression. Four of the five patients with seizure disorders experienced a marked improvement with time.

Conclusion: We found an age-adjusted prevalence of 0.63 per 100,000 females with Aicardi syndrome and that their seizure disorder appeared to improve with age.

Keywords

Aicardi syndrome; epilepsy; prevalence; rare disease.

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