What Is the Achari Syndrome? Clarifying Aicardi Syndrome

September 30, 2025 •

3 min read

According to the National Organization for Rare Disorders (NORD), Aicardi syndrome is a rare genetic disorder affecting an estimated 4,000 individuals worldwide. 'Achari syndrome' is a common misspelling of this complex condition, which is characterized by a triad of severe neurological and ocular symptoms. Primarily affecting females, it requires lifelong management and care.

Quick Summary

Aicardi syndrome is a rare genetic disorder with a classic triad of infantile spasms, missing or underdeveloped corpus callosum, and retinal lacunae. It is an X-linked dominant condition most often affecting females and is not passed down through generations. Management focuses on treating symptoms like seizures and developmental delays with a multidisciplinary approach.

Key Points

Misspelling of Aicardi Syndrome: 'Achari syndrome' is a frequent misspelling for the rare genetic disorder known as Aicardi syndrome.
Defining Triad: Aicardi syndrome is characterized by a classic triad of features: agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms.
Genetic Cause: The syndrome is caused by a spontaneous (de novo) mutation on a gene on the X chromosome, and is not typically inherited.
Primary Impact on Females: Due to its X-linked dominant inheritance pattern, Aicardi syndrome almost exclusively affects females, as the mutation is often lethal for males in early development.
Wide Range of Symptoms: Symptoms vary greatly and can include severe developmental delays, various seizures, distinctive facial features, skeletal problems, and gastrointestinal issues.
Multidisciplinary Management: Treatment focuses on managing symptoms with a team of specialists, including neurologists, ophthalmologists, and therapists.
Variable Prognosis: The outlook depends on symptom severity, with some individuals having a shortened life expectancy, while others with milder forms can live into adulthood.

What is Aicardi Syndrome?

Aicardi syndrome, first described in 1965, is a rare neurodevelopmental disorder diagnosed almost exclusively in females. It is characterized by a classic triad, although not all affected individuals display all three features. These hallmark signs are the complete or partial absence of the corpus callosum (agenesis), lesions on the retina (chorioretinal lacunae), and a type of seizure called infantile spasms.

The Cause: Genetic Mutations

Aicardi syndrome is believed to be caused by a spontaneous genetic mutation, meaning it typically isn't inherited. Research indicates it results from a new mutation on a gene located on the X chromosome, though the specific gene hasn't been identified.

X-linked dominant pattern: The disorder follows an X-linked dominant inheritance pattern.
Predominance in females: The mutation is often lethal early in development for males who have only one X chromosome. Surviving affected males usually have an extra X chromosome (47, XXY).
Sporadic occurrence: Most cases are sporadic, resulting from a de novo mutation in the individual.

Recognizing the Symptoms

Symptoms usually appear in infancy, often between 3 and 5 months, with the onset of seizures. The severity and combination of symptoms vary widely.

Common Symptoms Include:

Neurological: Infantile spasms, potentially evolving into other difficult-to-control seizures; moderate to severe developmental delay and intellectual disability; low muscle tone (hypotonia); and other brain malformations like an unusually small head (microcephaly) or cysts.
Ocular (Eye-related): Chorioretinal lacunae, appearing as yellowish spots, are a characteristic feature; small eyes (microphthalmia); a gap or hole in the optic nerve (coloboma); and potential partial sight or blindness.
Skeletal: Defects of the ribs and spine (costovertebral abnormalities), which can lead to abnormal spine curvature (scoliosis).
Gastrointestinal: Feeding difficulties, constipation, diarrhea, and gastroesophageal reflux are common.
Craniofacial: Many cases show distinctive facial features, including a flat nose, sparse eyebrows, and a short philtrum (area between the upper lip and nose).

Diagnosis and Differentiation

Diagnosis is based on clinical assessment, typically requiring the classic triad or specific combinations of features. Other conditions must be ruled out due to some nonspecific symptoms.

Differential Diagnosis Table: Aicardi vs. Aicardi-Goutières Syndrome


Feature	Aicardi Syndrome	Aicardi-Goutières Syndrome (AGS)
Primary System Affected	Brain and eyes	Brain, spinal cord, immune system (leukodystrophy)
Classic Diagnostic Features	Infantile spasms, agenesis of corpus callosum, chorioretinal lacunae	Intracranial calcifications, leukoencephalopathy, inflammatory markers
Genetic Basis	X-linked dominant, typically a de novo mutation on the X chromosome (gene not yet identified)	Autosomal recessive inheritance via mutations in several specific genes (e.g., TREX1, RNASEH2A)
Affected Population	Almost exclusively females	Both males and females
Eye Involvement	Central retinal lacunae, microphthalmia	Not a defining feature; ocular issues are different from retinal lacunae seen in Aicardi

Managing Aicardi Syndrome

There is no cure for Aicardi syndrome, so treatment focuses on symptom management and improving quality of life. This requires a multidisciplinary team of specialists.

Seizure Control: Pediatric neurologists manage seizures, which are often challenging to control. Treatment options include antiepileptic drugs, the ketogenic diet, and sometimes a vagal nerve stimulator.
Developmental Support: Physical, occupational, and speech therapies are vital for addressing developmental delays, improving motor skills, communication, and daily activities.
Vision Care: Pediatric ophthalmologists monitor and treat eye abnormalities. Visual aids and strategies for visual impairment are important.
Feeding and GI Support: A gastroenterologist and a feeding team can help manage feeding and gastrointestinal issues, potentially including a gastrostomy tube.
Skeletal Health: Orthopedic specialists and physical therapists address rib and spine issues, including scoliosis.

Outlook and Research

The prognosis varies significantly based on symptom severity. While many individuals face challenges and need lifelong care, some have been reported to survive into adulthood.

Research supported by organizations like the National Institute of Neurological Disorders and Stroke (NINDS) aims to understand the genetic causes, improve diagnosis, and develop new treatments. The Aicardi Syndrome Foundation provides support and resources for affected families.

Conclusion

'Achari syndrome' is a common misspelling for the rare neurodevelopmental disorder, Aicardi syndrome. Characterized by a triad of brain malformations, eye abnormalities, and infantile spasms, Aicardi syndrome primarily affects females and requires comprehensive, multidisciplinary management focused on addressing its diverse symptoms. While currently incurable, ongoing research into its genetic basis and potential therapies offers hope for improved understanding and outcomes for affected individuals and their families. Effective care involves a coordinated team of medical specialists and therapists to support individuals throughout their lives.

Visit the National Institute of Neurological Disorders and Stroke website for more information on Aicardi Syndrome.

Frequently Asked Questions

The term 'Achari syndrome' is a common misspelling of Aicardi syndrome, a rare genetic disorder that affects the brain and eyes, primarily in females. It is characterized by seizures, missing or underdeveloped brain structures, and lesions on the retina.

The main symptoms include infantile spasms (a type of seizure) that start early in life, partial or complete absence of the corpus callosum in the brain, and chorioretinal lacunae, which are yellowish spots on the retina.

No, Aicardi syndrome is not typically inherited. It is believed to be caused by a spontaneous (de novo) mutation on a gene on the X chromosome, meaning it occurs randomly in individuals with no family history of the disorder.

Because the gene mutation is X-linked dominant, it is usually lethal in males who only have one X chromosome. Since females have two X chromosomes, they can survive the mutation, though they will be affected by the disorder.

Diagnosis is based on a clinical examination and specific findings, including the classic triad of symptoms. Tests like a brain MRI, EEG to measure brain activity, and an eye exam are used to confirm the diagnosis.

There is no cure. Treatment focuses on managing the specific symptoms, such as controlling seizures with medication, using therapy to address developmental delays, and treating eye and skeletal abnormalities.

The prognosis varies widely depending on the severity of the symptoms. Many individuals have significant developmental delays and a shortened life expectancy, but some with milder symptoms have been known to live into adulthood.