Aicardi Syndrome Workup

  • Author: Ronald G Davis, MD, MPH, FAAP; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Mar 29, 2012
 

Laboratory Studies

If the clinical scenario is convincing in patients with suspected Aicardi syndrome, extensive laboratory studies are not indicated.

  • Most children should have high-resolution karyotyping. If the diagnosis is doubtful, consider evaluating for inborn metabolic error and congenital infection.
  • If typical clinical findings manifest in a male, look for an XXY chromosomal pattern.
  • Children with partial manifestations may have translocations that can influence reproductive choices of parents.
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Imaging Studies

  • Neuroimaging can delineate the degree of CNS dysgenesis and help evaluate other potential etiologies of intractable epilepsy and developmental delay.[9]
  • 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.
  • 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

  • Ophthalmologic: Evaluation by an experienced ophthalmologist is crucial, especially if optic malformation (eg, anterior chamber abnormalities) makes the examination more difficult.
  • Electroencephalographic
    • Abnormalities are common.
    • Most patients suffer from multiple types of seizures, but EEG findings are inconsistent.
    • A pattern highly suggestive of the diagnosis in the typical clinical context is the presence of a burst suppression pattern arising independently from each hemisphere. In one case, the EEG 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

  • 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

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.

Coauthor(s)

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.

Specialty Editor Board

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 Research, and College of American Pathologists

Disclosure: Nothing to disclose.

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.

Hagop Youssoufian, MD, MSc  Vice President of Clinical Research, ImClone Systems Incorporated

Hagop Youssoufian, MD, MSc is a member of the following medical societies: American Society for Clinical Investigation, American Society of Clinical Oncology, American Society of Hematology, and American Society of Human Genetics

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

References

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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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