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Aicardi Syndrome

Aicardi syndrome is a very rare congenital condition characterized by failure of the corpus callosum (nerve bundle that connects the hemispheres of the brain) to develop. The callosal agenesis may be partial or complete. Aicardi syndrome appears only in females; affected males die in utero.

Aicardi syndrome usually manifests with infantile spasms occurring between the first and fifth months of life. Epilepsy, developmental delays, hypotonia, microcephaly, and abnormalities of the ribs and vertebrae may also be present. Individuals with Aicardi syndrome tend to experience progressive functional decline. Mortality is high and few affected individuals survive into adulthood.

Airway clearance indications associated with Aicardi syndrome include:

• Restrictive lung disease: In conditions where respiratory muscles are weak and the spine and thorax are deformed, the ability to take a big breath, to generate expiratory force, and to cough effectively are typically affected.
• Hypotonia: Inadequate control of respiratory muscles due to denervation or hypotonia can impair the normal cough reflex and, as a result, interfere with the ability to clear aspirated material and pulmonary secretions from the airways.
• Seizure activity: Seizures carry a high risk for aspiration of saliva and gastric contents. Because saliva and gastric contents contain bacteria, aspiration introduces microorganisms into normally sterile airways.
• Retained secretions: Ineffective clearance of pulmonary secretions can lead to secretion retention and pooling. Retained secretions are an ideal cultural medium for bacterial pathogens. Consequent infections produce still more mucus, initiating a vicious cycle of mucus obstruction, recurrent bouts with pneumonia, bacterial colonization, and progressive pulmonary compromise.

Aggressive bronchial hygiene, including daily Airway Clearance Therapy, is an essential component in the management of patients with pulmonary complications associated with Aicardi syndrome. Conscientious attention to daily secretion clearance may prevent or minimize the pulmonary complications associated with this disorder.

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Sources

Thoene JG, ed. Physicians' Guide to Rare Diseases. Montvale, NJ: Dowden Publishing; 1995: 258-259. National Institute of Neurological Disorders and Stroke. Spinal muscular atrophy. Available at: http://www.ninds.nih.gov/patients/Disorder/aicardi/aicardi.html . Accessed April 2000.

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