Aicardi Syndrome

Aicardi syndrome is a rare disorder affecting girls. The exact cause for this disorder is not known but it is genetic disorder. Newborn girls with this problem will develop seizures during 1-3 months or before completing first year. In this disorder the connection between the two hemispheres of the brain is disturbed in the region of corpus collusum. Treatment of Aicardi syndrome is given only for managing the symptoms of seizures and developmental delay.

Causes :

Aicardi syndrome is caused by gene mutation but this disorder is not passed on to the offspring by the parent. Gene mutation is involved in the X chromosomes of the girls causing complete absence of corpus collusum that connects two hemispheres of the brain. It would produce complex form of seizures starting during infancy. It may cause retinal lacunae marking lesions on the retina of the child.

It was JD Aicardi, a French doctor who found this syndrome in his study conducted with children with partial closure of corpus collusum and vision abnormalities. Aicardi syndrome is a rare disorder and can cause mental retardation in the affected children. It can cause sudden death and very rarely affected children will enter into adolescence.

Symptoms :

Lesions are found on the retina observed as cluster in the optic disc of the eyes causing yellowish or whitish tinge. These lesions do not contain pigment and this disorder involves ocular lesions leading to cataract and retinal detachment in affected child. Initial seizures are seen during infancy or early childhood. The child may have jerk movements or infantile spasms.

Yellowish patch is seen on the retina apart from coloboma (a defect on the iris) of the eyes. The affected child may have cleft palate and craniofacial abnormality. In addition there can be skeletal malformation, vertebral disorder (fused vertebrae), scoliosis and neuro-developmental problems like mental retardation severely. The child may have difficulty in walking or speaking.

Diagnoses :

Aicardi syndrome can be detected in early stages through the above symptoms of seizures and retinal problem. EEG or MRI scan is done for detecting brain’s condition and eye examination is done for studying the damage of retina.

Treatment :

There is no cure for this disorder, being genetic. Treatment is given for managing seizures in infancy. Rehab programs are conducted to cope with mental retardation. A child recognized with this disorder has to be on continuous care of pediatric neurologist. Conventional epilepsy medications are given. For some children adreno-corticotropic hormone is injected.

Vigabatrin is recommended for blocking the neurotransmitter in the brain that causes seizures. Pulmonary dysfunction and infection is very common in affected children and often they die due to severe pulmonary infection. Medications like corticotrophin and Sabril is considered for treating infantile spasms.

Complications involve sudden death of the child due to pneumonia or any other pulmonary dysfunction. Affected children have high risk of dying in early ages depending on the intensity of symptom involved. Even with the chance of survival it can be difficult for them to live with severe mental retardation.