Aicardi syndrome is a disorder that occurs almost exclusively in females.

Definition

Aicardi syndrome is a disorder that occurs almost exclusively in females. It is characterized by three main features that occur together in most affected individuals. People with Aicardi syndrome have absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis or dysgenesis of the corpus callosum).

They have seizures beginning in infancy (infantile spasms), which tend to progress to recurrent seizures (epilepsy) that can be difficult to treat. Affected individuals also have chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye (retina).

People with Aicardi syndrome often have additional brain abnormalities, including asymmetry between the two sides of the brain, brain folds and grooves that are small in size or reduced in number, cysts, and enlargement of the fluid-filled cavities (ventricles) near the center of the brain.

Some have an unusually small head (microcephaly). Most affected individuals have moderate to severe developmental delay and intellectual disability, although some people with this disorder have milder disability.

Many girls also have developmental abnormalities of their optic nerves and some have microphthalmia (small eyes). Skeletal problems such as absent or abnormal ribs and abnormalities of vertebrae in the spinal column (including hemi vertebrae 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 is distinct from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.)

History and prevalence

Aicardi syndrome was first recognized by a French neurologist named Jean Aicardi in 1965. In 1998, a review article by Aicardi describing the syndrome was published in the journal International Pediatrics. Estimates suggest that the worldwide prevalence of Aicardi Syndrome is around several thousand, with almost 900 cases having been identified in the United States.

Aicardi syndrome epidemiology

Although cases occur throughout the world, exact incidence and prevalence are unknown. In a series of children with infantile spasm, 2% had Aicardi syndrome. A study by Lund et al found the age-adjusted prevalence of Aicardi syndrome in Norway to be 0.63 cases per 100,000 females, as calculated for January 1, 2011.

Given the phenotypic heterogeneity and diagnostic difficulties associated with young children, it may be a more frequent cause of mental retardation and seizure in girls than previously thought. Some children may, however, have normal neurodevelopment, which significantly increases the potential numbers of children with Aicardi syndrome.

Symptoms of aicardi syndrome

The symptoms typically begin to surface in infancy but may not become apparent until early childhood. Common symptoms include:

Infantile spasms (involuntary muscle spasms that often involve the entire body)

Epilepsy

Intellectual disability

Atypically small head

Atypically small eyes

Muscle weakness

Delayed motor development

Abnormal development of the ribs and/or spine

Vision impairment or blindness

Aicardi syndrome diagnosis

Fetal MRI and prenatal ultrasound may show signs of brain abnormalities before a child is born.

Tests that confirm the diagnosis after a child is born include:

MRI of the brain to check for abnormalities in the corpus callosum or other brain structures.

EEG to assess brainwaves and confirm an epilepsy diagnosis, including which type.

Eye exam from a pediatric ophthalmologist to check for coloboma and choroidal lacunae.

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