Aicardi syndrome

A rare neurodevelopmental disorder marked by infantile spasms, partial or complete absence of the corpus callosum, and distinctive retinal lesions. It primarily affects girls and is usually diagnosed in infancy.

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Corpus callosum agenesis: A congenital absence or underdevelopment of the corpus callosum, the major bundle connecting the brain’s cerebral hemispheres. This structural brain finding is one of the syndrome’s three defining features.
Clinical diagnosis: The identification of a disease through symptoms, examination, medical history, and available test results. Aicardi syndrome is diagnosed from its characteristic clinical pattern rather than a single confirmatory test.
Jean Aicardi: A French pediatric neurologist known for describing Aicardi syndrome in 1965. His clinical description established the syndrome as a distinct disorder.
Genetic heterogeneity: The phenomenon in which changes in different genes can produce similar or overlapping clinical conditions. Researchers have considered whether more than one genetic cause could produce the syndrome’s shared features.
Infantile spasms: Brief seizures beginning in infancy, often involving sudden flexion or extension of the trunk and limbs. These seizures commonly bring the syndrome to medical attention.
Genetic counseling: A process that explains genetic conditions, inheritance, testing, and reproductive implications to individuals and families. Counseling can explain recurrence expectations despite the syndrome’s largely sporadic occurrence.
X-linked dominant inheritance: An inheritance pattern in which a disease-associated variant on the X chromosome can cause a trait with one altered copy. This pattern has been proposed to explain the syndrome’s marked predominance in girls and rarity among boys.
Somatic mosaicism: The presence of genetically distinct cell populations within one individual, arising from changes after fertilization. Mosaic changes have been proposed as a possible explanation for occasional affected males.
Chorioretinal lacunae: Distinctive pale, well-defined lesions in the retina and underlying choroid, visible on eye examination. These characteristic retinal lesions help distinguish Aicardi syndrome from other causes of infantile spasms.
Antiseizure medication: Medicines used to reduce or prevent seizures by altering neuronal activity. Treatment aims to control the often difficult-to-manage seizures associated with the syndrome.