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Aicardi syndrome

Aicardi syndrome is a congenital disorder thought to result from an abnormality of the X chromosome and characterized by absence of the corpus callosum, retinal abnormalities, and seizures (often infantile spasms). more...

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History

It was first described by Jean Aicardi, a french neurologist in 1965.

Epidemiology

There are about 500 cases worldwide, almost all of them in females, because it is thought to be lethal in otherwise genetically normal males. It has been identified in males with Klinefelter syndrome, who have an extra X chromosome.

Pathophysiology

Features

Children are most commonly identified with Aicardi Syndrome between the ages of three and five months. A significant number of these girls are products of normal births and seem to be developing normally until around the age of three months, when they begin to have infantile spasms. The onset of infantile spasms at this age is due to closure of the final neural synapses in the brain, a stage of normal brain development.

Prognosis varies widely, though all experience developmental delays of some degree, typically moderate to profound mental retardation. They are often happy, friendly girls, and many enjoy stimming with their hands.

Diagnosis

Aicardi syndrome is characterized by the following "markers":

  1. Absence of the Corpus callosum, either partial or complete (Agenesis of the corpus callosum).
  2. Infantile spasms
  3. Lesions or "lacunae" of the retina of the eye that are very specific to this disorder
  4. Other types of defects of the brain such as microcephaly, enlarged ventricles, or porencephalic cysts

Treatment

Treatment of Aicardi syndrome primarily involves management of seizures and early/continuing intervention programs for developmental delays.

Prognosis

The known age range of affected children is from birth to the mid 40’s.

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Brazeau, Victor J.
From Milwaukee Journal Sentinel, The, 4/3/00

Brazeau, Victor J.

Monday, April 03, 2000

Brazeau, Victor J. Of Oak Creek. Passed Away peacefully at home on Sat. April 1, 2000, 69 years. Beloved husband of Mary (nee Hayes). Dear father of Sandy (Scott) Thinnes, Terry (Sandy), Jeff (Janie), Mike (Lisa), Tim, Linda (Terry) Tveita, Jim (Vanessa) and David Brazeau. Loving grandfather of Ryan, Chad, Jenny, Samantha, Danny, Michael, Brittney, Laura, Serena, Josh, Sharayah and Jared. Brother of Grace (Robert) Doemel, Marie (Silas) Sharkey, Patricia Brazeau, Effie (Donald) Amburgy and Edgar Brazeau.Also survived by nieces, nephews, other relatives and friends.Funeral Service Tues. evening 7 PM at the funeral home chapel. In state Tues. from 4 PM until the time of Service (7 PM). Vic was a retired employee of Johnson Controls Inc. and Served in the Navy during the Korean Conflict.The family wishes to thank the caring staff of Hospice Preferred Choice. Memorials to Aicardi Syndrome Foundation appreciated. HERITAGE FUNERAL HOMES Gillette Johnson, Johnson & Reiss Chapel 9200 S. 27th St. 761-2750

Copyright 2000 Journal Sentinel Inc. Note: This notice does not apply to those news items already copyrighted and received through wire services or other media
Provided by ProQuest Information and Learning Company. All rights Reserved.

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