Aicardi syndrome
- Article
- 2021-03-02
Aicardi syndrome is a rare genetic condition that mainly affects newborn girls. The condition is sporadic, meaning it is not known to pass from parent to child. (An exception is a report of two sisters and a pair of identical twins, all affected.) The mutation causing Aicardi syndrome has not been identified, but it is believed to be caused by a dominant mutation found in the first occurs. time in a family in an x-linked gene that can be lethal in certain men. Aicardi syndrome can be seen in boys born with an extra "X" chromosome. (Females have two X chromosomes, while males normally have an X and a Y chromosome.) The exact gene or genetic mechanism that causes Aicardi syndrome is not yet known.
Originally, Aicardi syndrome was characterized by three main features: 1) partial or complete absence of the structure ( corpus callosum ) connecting the two hemispheres of the brain (2) infantile spasm (a type of seizure disorder) and 3) chorio retinal lacunae , lesions on the retina that look like yellowish spots. However, it is now known that Aicardi syndrome has a much broader spectrum of abnormalities than was initially described. Not all girls with the condition have the three features described above and many girls have additional features such as lower tone around the head and trunk, microcephaly (small head circumference) and spasticity in the limbs.
Typical brain findings in girls with Aicardi syndrome include heterotopias , groups of brain cells that migrated to the wrong brain region during development; polymicrogyria or pachygyria , which are numerous small or too few brain folds; and cysts (fluid-filled cavities) in the brain. Girls with Aicardi syndrome have varying degrees of intellectual disability and developmental delay. Many girls also have optic nerve development disorders and some have microfthalmia (small eyes). Skeletal problems such as absent or abnormal ribs and anomalies of vertebrae in the spine (including hemivertebrae and butterfly vertebrae) have also been reported. Some girls also have skin problems, facial asymmetry, small hands and an increased incidence of tumors.
(Aicardi syndrome differs from Aicardi-Goutières syndrome, a hereditary encephalopathy that affects newborn babies.)
Therapy
There is no cure for Aicardi syndrome, nor is there any standard treatment. Treatment generally includes medical treatment for seizures and programs to help parents and children deal with developmental delays. Long-term treatment by a pediatric neurologist with expertise in the management of infantile spasms is recommended.
Prognosis
The prognosis for girls with Aicardi syndrome varies depending on the severity of their symptoms. There is an increased risk of death in childhood and adolescence, but survivors into adulthood have been described.
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