Aicardi Syndrome Treatment & Management

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

Medical Care

Treatment is indicated as follows in patients with Aicardi syndrome:

  • Seizures
    • Use conventional epilepsy therapies for the many possible seizure manifestations.
    • Infantile spasm requires specific interventions and is typically unresponsive to conventional anticonvulsants. This seizure type may be especially recalcitrant to therapy. Guidelines for the medical treatment of infantile spasms have been established by the American Academy of Neurology and the Child Neurology Society.[10]
      • Adrenocorticotropic hormone (ACTH) is effective for some patients and should be considered.
      • Vigabatrin, a more recently introduced therapy for infantile spasm, blocks gamma-aminobutyric acid (GABA)–T, an enzyme that breaks down GABA, the major inhibitory neurotransmitter in the brain. Although concerns have been raised about possible ophthalmologic sequelae (eg, constriction of the visual fields) after using vigabatrin, it has been effective for infantile spasm without the serious life-threatening adverse effects of ACTH. If retinal disruption from the congenital insult is deemed sufficiently severe, the serious nature and sequelae of infantile spasm may outweigh the risks of using vigabatrin. However, this medication is not currently approved for use in the United States, which precludes its frequent use there.
      • A ketogenic diet may also be indicated.
  • Pulmonary
    • Profound mental retardation, immobilization, seizures, and scoliosis may contribute to cardiopulmonary dysfunction.
    • Patients have a shortened life span and commonly die from pulmonary infections.
    • Aggressive pulmonary toilet and alternate feeding routes (eg, feeding tubes) may help slow pulmonary deterioration.
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Surgical Care

  • No information has been published on cortical resection or the use of vagus nerve stimulation for seizures in Aicardi syndrome.
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Consultations

  • Consultation with a child neurologist is probably needed during the first year of life.
  • A pediatric ophthalmologist is best able to confirm retinal lacunae.
  • If the diagnosis is doubtful, or if subsequent children are planned, a geneticist with expertise in dysmorphology is often helpful.
  • Consult an orthopedic, pulmonary, or gastroenterologic specialist if complications arise from scoliosis, pulmonary function, or feeding or aspiration difficulties.
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Diet

  • No specific dietary recommendations are noted.
  • Use of the ketogenic diet to control seizures associated with this condition, specifically infantile spasms, may be indicated.
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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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