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Aicardi Syndrome Workup

  • Author: Ravi Sunderkrishnan, MD; Chief Editor: Maria Descartes, MD  more...
 
Updated: Mar 31, 2016
 

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.
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Imaging Studies

See the list below:

  • Neuroimaging can delineate the degree of CNS dysgenesis and help evaluate other potential etiologies of intractable epilepsy and developmental delay.[17]
  • MRI is preferred because its anatomic resolution is superior to 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.[18]
  • 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.
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Other Tests

See the list below:

  • 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.
    • In one case, the EEG findings prompted a search for other characteristics to establish the diagnosis.
    • EEG findings, along with diminished seizure frequency, commonly evolve as a patient ages. Nevertheless, some findings have shown an evolution from epileptic encephalopathy with suppression-burst (Ohtahara syndrome) to West syndrome and, subsequently, to the Lennox-Gastaut syndrome.
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Histologic Findings

See the list below:

  • 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.
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Contributor Information and Disclosures
Author

Ravi Sunderkrishnan, MD Fellow in Nephrology, Thomas Jefferson University Hospital

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

James Bowman, MD Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago

James Bowman, MD is a member of the following medical societies: Alpha Omega Alpha, American Society for Clinical Pathology, American Society of Human Genetics, Central Society for Clinical and Translational Research, College of American Pathologists

Disclosure: Nothing to disclose.

Acknowledgements

Ronald G Davis, MD, MPH, FAAP Assistant Clinical Professor, Child Neurology, Florida State University; Owner and Medical Director of Pediatric Neurology, PA and Pediatric Neurology Epilepsy Center of Central Florida; Medical Director of Epileptology, Arnold Palmer Hospital for Women and Children in Orlando, Florida; Medical Director, Central Florida Muscular Dystrophy Association Clinic

Ronald G Davis, MD, MPH, FAAP is a member of the following medical societies: American Academy of Pediatrics, American Epilepsy Society, and Child Neurology Society

Disclosure: Nothing to disclose. Marc P DiFazio, MD Associate Professor, Department of Neurology, Uniformed Services University of the Health Sciences; Director, Pediatric Subspecialty Services, Shady Grove Adventist Hospital for Children

Marc P DiFazio, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Cerebral Palsy and Developmental Medicine, American Academy of Neurology, Child Neurology Society, and Movement Disorders Society

Disclosure: Nothing to disclose.

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Cross-section of an eye in a patient with Aicardi syndrome. The arrow indicates chorioretinal lacunae.
Chorioretinal lacunae.
 
 
 
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