AICARDI SYNDROME
 
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    AICARDI SYNDROME

     

    DEFINITION:

    An x-linked recessive disorder characterized by neurological and ophthalmologic manifestations and agenesis of the corpus callosum.

    EPIDEMIOLOGY:

    • incidence: rare (about 100 cases worldwide)
    • age of onset:
      • first few months of life (myoclonic seizures)
    • risk factors:
      • familial - ? x-linked dominant with lethality in hemizygous males
        • chrom.#: Xp22
        • gene: ?
      • F >> M (only 1 male described)

    PATHOGENESIS:

    1. Genetic Defect

    • gene defect -> insult prior to 16 weeks gestation

    CLINICAL FEATURES:

    1. Neurological Manifestations

    • myoclonic seizures (infantile flexor spasms)
    • psychomotor retardation
    • severe mental retardation
    • others: hypotonia, microcephaly, plagiocephaly

    2. Ophthalmologic Manifestations

    • pathognomonic: lacunar chorioretinopathy - ovoid or circular
    • unilateral or bilateral microphthalmia
    • persistent pupillary membrane
    • colobomas of optic nerve and choroid
    • blindness

    3. Other Manifestations

    1. Musculoskeletal

    • hemivertebrae, fused vertebrae, scoliosis, rib anomalies

    2. Neoplasms

    • hepatoblastoma

    INVESTIGATIONS:

    1. EEG

    • characteristic periodic asynchronous discharges from right and left hemispheres
    • no hypsarrhythmia

    2. Imaging Studies

    1. CT/MRI

    • complete or partial absence of the corpus callosum (with high rising 3rd ventricle)
    • others: absent pineal gland, cortical ectopia & heterotopias, Dandy-Walker malformation, lissencephaly, papillomas of choroid plexus, polymicrogyria, porencephalic cysts, ventriculomegaly

    DIAGNOSIS:

       

    1. Myoclonic Seizures

    2. Lacunar Chorioretinopathy

    3. Characteristic EEG

    4. Agenesis of the Corpus Callosum

    MANAGEMENT:

    1. Supportive

    • multidisciplinary approach: Paediatrics, Ophthalmology, Neurology
    • anticonvulsants

    INTERNET LINKS:

    Aicardi Syndrome Foundation

     

 

Pediatric Database - AICARDI SYNDROME

 

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