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Aicardi Syndrome.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2006 Jun 30 [updated 2014 Nov 6].

Author information

1
Associate Professor, Department of Molecular and Human Genetics, Baylor College of Medicine & Texas Children’s Hospital, Houston, Texas
2
Professor, Departments of Obstetrics and Gynecology and Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas

Excerpt

CLINICAL CHARACTERISTICS:

Aicardi syndrome was classically characterized by a triad of features: agenesis of the corpus callosum, distinctive chorioretinal lacunae, and infantile spasms. However, it is now well recognized that several other important findings are typically present in girls with Aicardi syndrome. Neurologic examination can reveal microcephaly, axial hypotonia, and appendicular hypertonia with spasticity. Moderate to severe global developmental delay and intellectual disability are expected. Many girls with Aicardi syndrome develop seizures prior to age three months, and most before age one year. Ongoing medically refractory epilepsy with a variety of seizure types develops over time. Costovertebral defects are common and can lead to marked scoliosis in up to one third of affected individuals. Other features include characteristic facial features, gastrointestinal difficulties, small hands, vascular malformations and pigmentary lesions of the skin, increased incidence of tumors, lower growth rate after ages seven to nine years, and precocious or delayed puberty. Survival is highly variable, with the mean age of death about 8.3 years and the median age of death about 18.5 years.

DIAGNOSIS/TESTING:

The diagnosis of Aicardi syndrome is based on clinical features including the pathognomonic chorioretinal lacunae identified on ophthalmologic examination, brain MRI findings (dysgenesis of the corpus callosum, gross cerebral asymmetry with polymicrogyria or pachygyria, periventricular and intracortical grey matter heterotopia, choroid plexus papillomas, ventriculomegaly, and intracerebral cysts, often at the 3rd ventricle and in the choroid plexus), and skeletal findings (hemivertebrae, block vertebrae, fused vertebrae, and missing ribs). Aicardi syndrome appears to be an X-linked dominant disorder with lethality in males, but no gene or candidate region on the X chromosome has been definitively identified.

MANAGEMENT:

Treatment of manifestations: Treatment is individualized and long-term management by a pediatric neurologist with expertise in management of infantile spasms and medically refractory epilepsy is essential. Individuals with Aicardi syndrome usually require multiple antiepileptic drugs (AEDs) for adequate seizure control. Some improve with use of vigabatrin and vagus nerve stimulators. Physical therapy, occupational therapy, speech therapy, and vision therapy should begin at diagnosis. Appropriate musculoskeletal support and treatment for prevention of scoliosis-related complications is indicated. Surveillance: Includes routine dermatologic evaluation to monitor for vascular and other malignancies, monitoring for gastrointestinal complications, and monitoring of the spine to assess the degree of scoliosis.

GENETIC COUNSELING:

Because Aicardi syndrome is seen only in females and males with a 47,XXY karyotype, it is presumed to be caused by dominant de novo mutation of a gene on the X chromosome that is lethal in 46,XY males. The risk to sibs is less than 1%. No instances of mother-to-daughter transmission have been documented, despite the presence of rare adult women with milder forms of Aicardi syndrome. If a female with Aicardi syndrome were to conceive, the risk that the mutant allele will be transmitted could be 50%; however, male conceptuses with the mutant allele are presumed to be nonviable. Thus at delivery the expected ratio of offspring would be 33% unaffected females, 33% affected females, and 33% unaffected males. Prenatal ultrasound examination or fetal MRI may detect some features of Aicardi syndrome. Prenatal testing by molecular genetic testing is not possible as the gene(s) in which mutation is causative are not known.

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