Question 1

What is Aicardi syndrome?

Accepted Answer

Aicardi syndrome is a rare neurodevelopmental disorder most often seen in females. It is defined by a characteristic triad that includes partial or complete absence of the corpus callosum, distinctive chorioretinal lacunae, and infantile spasms. The condition is very rare, affecting approximately 1 to 9 individuals per million, and nearly all cases occur in girls. Although the precise genetic basis is not yet fully understood, the syndrome is known to be inherited in an X-linked manner.

Question 2

What are the symptoms of Aicardi syndrome?

Accepted Answer

Individuals with Aicardi syndrome typically present with a combination of neurological, ophthalmologic, and skeletal features. Neurologically, many affected children experience severe intellectual disability, global developmental delays, and infantile spasms; brain imaging often reveals partial agenesis of the corpus callosum along with other malformations such as pachygyria and polymicrogyria. Ocular findings include abnormalities in retinal pigmentation that are characteristic of the syndrome. In addition, a number of skeletal abnormalities such as scoliosis, rib fusion, block vertebrae, bifid ribs, and facial features like a short philtrum and protruding ear have been reported. Not all individuals experience all of these features, and severity varies considerably.

Question 3

What causes Aicardi syndrome?

Accepted Answer

Most cases of Aicardi syndrome arise from de novo genetic changes, meaning there is usually no prior family history. The condition is inherited in an X-linked dominant pattern, which explains why nearly all affected individuals are female while affected males are exceedingly rare. The precise genetic basis is under investigation, and current understanding suggests that disruption of a gene on the X chromosome plays a key role. Families are encouraged to seek genetic counseling to understand the implications for family planning as well as to discuss recurrence risks, which are generally low due to the de novo origin of most cases.

Question 4

How is Aicardi syndrome inherited?

Accepted Answer

Aicardi syndrome follows an X-linked inheritance pattern. Because the gene is located on the X chromosome, the condition may affect males and females differently.

Question 5

How rare is Aicardi syndrome?

Accepted Answer

Aicardi syndrome is classified as rare. The estimated prevalence is approximately 1-9 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

Question 6

How is Aicardi syndrome diagnosed?

Accepted Answer

The diagnosis of Aicardi syndrome is based on a combination of clinical evaluation and neuroimaging findings. Key features that point toward the diagnosis include the characteristic triad of agenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae, as identified through brain imaging and comprehensive ophthalmologic examination. Since these clinical findings can overlap with other conditions, genetic testing and a thorough clinical history are essential to rule out similar disorders and confirm the diagnosis. Ongoing evaluation by a multidisciplinary team is important to address the varied manifestations of the condition.

Question 7

Are there treatments for Aicardi syndrome?

Accepted Answer

Currently, management of Aicardi syndrome focuses on supportive care and symptom management. In the absence of any FDA-approved treatments, care is tailored to the individual and typically involves a multidisciplinary team that may include neurologists, ophthalmologists, orthopedic specialists, and rehabilitation professionals. Long-term management emphasizes regular surveillance and monitoring to detect complications early, with interventions such as seizure control, physical and occupational therapy, and management of skeletal anomalies forming the cornerstone of treatment. Families are advised to discuss specific treatment options with their healthcare team, and genetic counseling is recommended for guidance on family planning.

Question 8

Are there clinical trials for Aicardi syndrome?

Accepted Answer

Yes, there are currently 3 active clinical trials for Aicardi syndrome registered on ClinicalTrials.gov. Clinical trials test new treatments, procedures, or approaches. Your healthcare provider can help determine if a trial might be appropriate for your situation. Visit the Treatment section of this page for more details.

Question 9

What complications can arise from Aicardi syndrome?

Accepted Answer

Aicardi syndrome can lead to various complications due to its effects on the brain and body. Many individuals may experience severe intellectual disability and developmental delays, which can impact learning and daily activities. Additionally, skeletal abnormalities like scoliosis and rib fusion may require medical attention. Regular monitoring and supportive care are essential to manage these complications effectively.

Question 10

How does Aicardi syndrome affect daily life for individuals and families?

Accepted Answer

Living with Aicardi syndrome can present daily challenges for both individuals and their families. Children may need assistance with daily activities due to developmental delays and intellectual disability. Families often work closely with a team of specialists, including neurologists and therapists, to develop a routine that supports their loved one's needs. This collaborative approach can help improve quality of life and provide necessary resources.

Question 11

What is the prognosis for individuals with Aicardi syndrome?

Accepted Answer

The prognosis for individuals with Aicardi syndrome varies widely depending on the severity of symptoms and the timing of diagnosis. While it is a lifelong condition, many individuals benefit from supportive care and interventions that can improve their quality of life. Advances in treatment and management strategies continue to evolve, which may positively influence long-term health outcomes for those affected.

Question 12

What specialists should families consult for managing Aicardi syndrome?

Accepted Answer

Families managing Aicardi syndrome should consult a multidisciplinary team of specialists to address the various aspects of the condition. This team may include neurologists for neurological care, ophthalmologists for eye health, and orthopedic specialists for skeletal issues. Working with these professionals can help ensure comprehensive care and support tailored to the individual's unique needs.

Feature	% of Personsw/Feature	Comment
Neurologic	Seizures	95%
ID/DD	100%	Many have severe-profound ID do not develop language or ability to walk or sit independently; however, the degree of developmental impairment varies.
Structural brainmalformations	100%	While agenesis of the corpus callosum is part of the classic triad, virtually all have other brain malformations (e.g., heterotopias, cysts).
Ocular	Chorioretinallacunae	100%
Optic nerveabnormalities	90%	Colobomas hypoplasia of optic nerves are common visual impairment.
Other	Costovertebralabnormalities	~50%

Gene(s)	DiffDx Disorder	MOI	Features of DiffDx Disorder
Neurologic	Ophthalmologic	Other	Distinguishing from AIC COX7B HCCS NDUFB11
Microphthalmia w/linear skin defects syndrome	XL	Corpus callosum agenesis, seizures, ID	Microphthalmia, cataract, coloboma
X-linked periventricular heterotopia	XL	Neuronal migration defects, seizures, ID	None
KIF11	MCLMR (OMIM 152950)	AD	Severe microcephaly, ID
PLK4	MCCRP2 (OMIM 616171)	AR	Severe microcephaly, ID
PORCN	Focal dermal hypoplasia (Goltz syndrome)	XL	Normal ID
Tuberous sclerosis complex	AD	Infantile spasms, cortical tubers	Achromic retinal patches
TUBGCP4	MCCRP3 (OMIM 616335)	AR	Severe microcephaly, ID
TUBGCP6	MCCRP1 (OMIM 251270)	AR	Severe microcephaly, ID

System/Concern	Evaluation	Comment
Constitutional	Measure height, weight, head circumference.	—
Neurologic	Neurologic eval	To incl brain MRI; Consider EEG if seizures are a concern.
Development	Developmental assessment	To incl motor, adaptive, cognitive, speech-language eval; Eval for early intervention/ special education Psychiatric/
Behavioral	Neuropsychiatric eval	For persons age 12 mos: screening for concerns incl sleep disturbances, ADHD, anxiety, /or findings suggestive of ASD Costovertebral
abnormalities	Spine radiographs	To evaluate for hemivertebrae, block vertebrae, fused vertebrae; missing, malformed, fused ribs; Orthopedics consultation if costovertebral abnormalities are significant Musculoskeletal /
Activities of daily living	Physical medicine rehab / PT OT eval	To incl assessment of:; Gross motor fine motor skills; Mobility, activities of daily living, need for adaptive devices; Need for PT (to improve gross motor skills) /or OT (to improve fine motor skills) Gastrointestinal/
Feeding	Gastroenterology/nutrition/feeding team eval	To incl:; History of constipation, diarrhea, GERD; Eval of aspiration risk nutritional status; Consider eval for gastrostomy tube placement in affected persons w/dysphagia /or aspiration risk.
Eyes/Vision	Ophthalmologic eval	To assess for vision, abnormal ocular movement, strabismus
Endocrine	Physical exam for evidence of precocious or delayed puberty	—
Skin	Dermatologic eval	For vascular malformations pigmentary lesions at risk for malignant transformation Risk of
malignancy	No regular screening recommended, given variety of tumors seen. Treating clinicians should be alert to risk of malignancy.	Angiosarcoma, hepatoblastoma, medulloblastoma, embryonal carcinoma, teratoma have been reported. Genetic
counseling	By genetics professionals1	To date, no gene has been identified as causative of Aicardi syndrome. Genetic testing may be warranted to rule out , esp if presentation is not classic for Aicardi syndrome. Family support resources
Treatment of Manifestations in Individuals with Aicardi Syndrome Manifestation/Concern	Treatment	Considerations/Other
Developmental delay / Intellectual disability	See .	—
Epilepsy	Standardized treatment w/ASM by experienced neurologist; recent studies have shown ≤50% in median number of seizures w/cannabidiol.1	Most persons require multiple medications for mgmt of seizures, seizure types may change over time, requiring changes in medications.; Education of parents/caregivers2 Poor weight gain /
Failure to thrive	Feeding therapy; gastrostomy tube placement may be required for persistent feeding issues.	Low threshold for clinical feeding eval /or radiographic swallowing study if clinical signs or symptoms of dysphagia Mobility / Activities
of daily living	Orthopedics/ physical medicine rehab/ PT OT incl stretching to help avoid contractures falls	Consider need for positioning mobility devices, hygiene, disability parking placard. Abnormal vision
/or strabismus	Standard treatment(s) as recommended by ophthalmologist	Community vision services through early intervention or school district
Costovertebral abnormalities	Per treating orthopedist	Can incl musculoskeletal support treatment for prevention of scoliosis-related complications
Bowel dysfunction	Monitor for constipation.	Stool softeners, prokinetics, osmotic agents, or laxatives as needed ASM = anti-seizure medication; OT = occupational therapy; PT = physical therapy 1. 2. Education of parents/caregivers regarding common seizure presentations is appropriate.

Kisho

Aicardi syndrome

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Feeding

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Gastrointestinal

Respiratory

Neurologic

Development

Behavioral

Musculoskeletal

Malignancy

Care givers

Recent Publications

Aicardi syndrome

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Feeding

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Aicardi syndrome?

What are the symptoms of Aicardi syndrome?

What causes Aicardi syndrome?

How is Aicardi syndrome inherited?

How rare is Aicardi syndrome?

How is Aicardi syndrome diagnosed?

Are there treatments for Aicardi syndrome?

Are there clinical trials for Aicardi syndrome?

What complications can arise from Aicardi syndrome?

How does Aicardi syndrome affect daily life for individuals and families?

What is the prognosis for individuals with Aicardi syndrome?

What specialists should families consult for managing Aicardi syndrome?

Clinical Guidance

Explore clinical features

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Gastrointestinal

Respiratory

Neurologic

Development

Behavioral

Musculoskeletal

Malignancy

Care givers

Recent Publications