Aicardi syndrome

Reports from the MHC data base:


Synonyms



ICD-10
Q77.4


Estimated occurrence

1:500 000 live births


Etiology

Aicardi is probably caused by a change (new mutation) on the short arm of the X chromosome. The exact location has not been fully specified.


General symptoms

Characteristic symptoms are malformation of the colossal commisure and the retina (retina lacunae) as well as epilepsy. Between the ages of 3 and 6 months these girls develop epileptic seizures of the infantile spasm type. Later, different kinds of seizures commonly occur, and the epilepsy may be life-long. Various brain defects may occur, and give rise to different symptoms. Most individuals with Aicardi syndrome have severe mental retardation and never learn to speak or walk. Impaired vision is common and may be caused by different types of eye defects.


Orofacial/odontological symptoms

Eating difficulties, drooling and tooth grinding are common. Poor muscle tonus of the orofacial musculature is also common, and tends to impact on the development of face and jaws. Thus occlusal (bite) anomalies are frequent, for example, post-normal occlusion (Class II malocclusion) and a large horizontal overjet. There is an increased risk of tooth cavities (caries) and gingivitis. Epileptic seizures may lead to an increased risk for dental trauma.


Orofacial/odontological treatment
  • It is important that these children receive dental preventive treatment, with extra prophylactic care and information on oral hygiene from an early age.
  • Tooth grinding should be followed up, and possibly treated with a splint.
  • Regular check-ups of dental and jaw development. Orthodontist should be consulted when needed.
  • Feeding and swallowing difficulties are investigated and treated by a specialist team at the hospital or multidisciplinary treatment centre.
  • Orofacial therapy and oral motor stimulation may be relevant.

Sources

The rare diseases database of the Swedish National Board of Health and Welfare.
The MHC database - The Mun-H-Center database on oral health and orofacial function in rare diseases.
The Documentation from the Ågrenska national competence centre for rare diseases.


International association
Aicardi Syndrome Foundation

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