Aicardi Syndrome Workup

Updated: Nov 30, 2018
  • Author: Ravi Sunderkrishnan, MD; Chief Editor: Maria Descartes, MD  more...
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Laboratory Studies

No single laboratory finding exists to make a diagnosis. Rather, the diagnosis is made on the basis of clinical features, with neuroimaging studies to support the diagnosis.

Most children should have high-resolution karyotyping. If the diagnosis is doubtful, consider evaluating them for inborn metabolic error and congenital infection.

If typical clinical findings manifest in a male, look for an XXY chromosomal pattern.


Imaging Studies

Neuroimaging can delineate the degree of central nervous system (CNS) dysgenesis and help to evaluate other potential etiologies of intractable epilepsy and developmental delay. [18]

MRI is preferred because its anatomic resolution is superior to computed tomography (CT) scanning. Although CT scanning demonstrates the typical pattern of complete agenesis of the corpus callosum, partial agenesis and cortical migration abnormalities may not be evident. [19]

CT scanning can demonstrate calcifications (possible in congenital infections) better than MRI. If the diagnosis is questionable, CT scanning may be a helpful additional study.

Plain radiographs can help confirm the diagnosis by showing skeletal malformations. The most notable findings include costovertebral abnormalities, commonly affecting the thoracic vertebrae.


Other Tests

Ophthalmologic assessment

Evaluation by an experienced ophthalmologist is crucial, especially if optic malformation (eg, anterior chamber abnormalities) makes the examination more difficult.

Electroencephalography (EEG)

A pattern highly suggestive of the diagnosis in the typical clinical context is the presence of a burst suppression pattern, with complete asynchrony between the two hemispheres.

Often, 6 months after the onset of symptoms, the classic EEG may be replaced by multiple epileptic foci with a disorganized background.


Histologic Findings

Multiple brain malformations are common and may include complete or partial agenesis of the corpus callosum, cortical heterotopias, gyral malformation, and intraventricular cysts. These abnormalities do not affect all patients uniformly, and the brain's appearance may be grossly normal, with a preserved corpus callosum. Microscopic evaluation of the parenchyma commonly reveals disordered cellular organization and disruption of the normal layered appearance of the cortex.

Chorioretinal lacunae are described as well-circumscribed, punched-out lesions in the retinal pigment epithelium and choroid. The region of these abnormalities contains severely disrupted retinal architecture; all layers are thinned, choroidal vessel number and caliber are decreased, and pigmentary ectopia and pigmentary epithelial hyperplasia are present.