Aicardi Syndrome

Alternative Names

  • AIC
  • Corpus Callosum, Agenesis of, with Chorioretinal Abnormality
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

OMIM Number

304050

Mode of Inheritance

X-linked dominant

Gene Map Locus

Xp22

Description

Aicardi Syndrome is a neurological developmental disorder seen only in girls, classically characterized by the triad of agenesis of corpus callosum, infantile spasms, and chorioretinal lacuna. The corpus callosum agenesis may be partial or complete. Spasms are frequently asymmetrical, and occur in clusters, preceded by a focal clonic or tonic seizure limited to the side in which the spasms predominate. Similarly, the lesions of the retina may also be unilateral. Apart from these classical features of the condition, newer diagnostic features recognized include cortical malformations like microgyria, periventricular and subventricular heterotopia, papilloma of choroids plexus, and optic disc or nerve coloboma. In most cases, affected girls develop quite normally till the age of three months, after which they start to exhibit symptoms of the condition.

There is no specific treatment available for Aicardi Syndrome. Management focuses on controlling the seizures, and dealing with the development delays. Most of the girls face developmental delays, and moderate to severe mental retardation.

Molecular Genetics

Aicardi Syndrome has been seen to affect only girls. There are only two recorded cases of males with Klinefelter Syndrome (XXY) presenting with Aicardi Syndrome. Thus, it is fairly clear that the disease is related to the X chromosome. In addition, there is only one reported case in literature, where the disease was seen in siblings. All other cases have been presumed to be due to sporadic de novo mutations. Further genetic studies in several patients with the condition showed a translocation involving the short arm of X chromosome, with a breakpoint at Xq22.3. However, the exact gene responsible for this condition remains to be identified.

Epidemiology in the Arab World

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Other Reports

Oman

Chacko et al. (2001) reported the neurological and systemic abnormalities in 22 children with corpus callosum, seen in a hospital over a period of five years (1993-1997). During the five year period, out of 2164 children who underwent CT scan of the brain for different reasons, 22 (1.02%) had corpus callosum agenesis. The selected group included a patient with Aicardi Syndrome who was found to have an X-linked recessive inheritance of ACC.

Yemen

Gulati (1989) reported the case of a 19-month old Yemeni girl with Aicardi syndrome. She presented with uncontrolled convulsions and mental retardation.

[Gulati R. Aicardi syndrome: a case report. Kuwait Med J. 1989; 23(2):197-9.]

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