Aicardi syndrome

Aicardi syndrome is classified among very rare congenital disorders and affects only girls. Its cause is unfortunately unknown. Worldwide, only a few hundred children are affected by this condition. As mentioned above, the cause is unknown, but it is likely the result of a random mutation of a gene on the X chromosome. The parents of children with Aicardi syndrome are healthy; inheritance has not been confirmed. Patients with this diagnosis are female only, because the mutation is tied to the X chromosome, although cases of boys with Klinefelter syndrome (47, XXY) diagnosed with Aicardi syndrome have been described.

During the first months of life, children develop without symptoms. Around 4 months to 4 years of age, seizure episodes occur — infantile spasms, which can progress into epileptic seizures. Other symptoms include hypotonia, microcephaly (small head circumference), microphthalmia (abnormally small eyes, incomplete development of the retina and optic nerve), and abnormalities of the ribs and spinal canal. During childhood, life‑threatening episodes may occur due to infections of the upper respiratory tract.

Diagnosis

A diagnosis of this syndrome can be considered only after thoroughly ruling out all other possible causes of delayed psychomotor development. To confirm the diagnosis, EEG (to examine brain activity) and imaging methods such as CT or MRI are used.
Patients with Aicardi syndrome typically have asymmetry of the brain hemispheres, and the presence of cysts and cavities (ventricular abnormalities) detectable by imaging studies. This syndrome exists in various degrees of severity: while very severe forms do not survive to adulthood due to intense epileptic seizures, milder forms present only mild symptoms.

Treatment and prevention

Treatment is complex, with the main goal being to manage epileptic seizures through pharmacological therapy. Unfortunately, no prevention exists, and there is no way to stop the syndrome from developing. Patients are usually treated under the care of neurologists, ophthalmologists, and psychologists.

• involvement of the nervous system — seizure episodes
• brain damage — absence of the corpus callosum, which is responsible for connecting the cerebral hemispheres
• presence of cysts or cavities on brain imaging (CT, MRI, ultrasound)
• microcephaly (small brain size)
• learning difficulties
• seizure episodes
• epilepsy poorly responsive to pharmacotherapy
• retinal abnormalities
• delayed psychomotor development
• facial features: narrow space between the upper lip and the nose, broad nose with a slightly upturned tip, sparse eyebrows, large ears
• other body features: small hands, rib and spinal abnormalities (scoliosis), abnormalities of the upper limbs
• gastrointestinal difficulties: constipation, diarrhea, reflux, feeding problems