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Aicardi syndrome
Codes
ICD-10: Q04.0
ORPHA: 50
General information
Estimated occurrence
Aicardi syndrome only affects females. Very rare.
Cause
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 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.
Advice on follow-up and treatment
It is important that individuals with Aicardi syndrome 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.