J Korean Acad Rehabil Med.  2000 Jun;24(3):576-581.

Aicardi Syndrome: A case report

Affiliations
  • 1Department of Rehabilitation Medicine, School of Medicine, The Catholic University of Korea.

Abstract

Aicardi syndrome is defined by the clinical triad infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Infantile spasm begins at early infancy and tends to be controlled poorly. The prognosis is poor in the patient with severe developmental delay and intractable seizures being common. We present a case of Aicardi syndrome in the 9-month-old female infant with infantile spasm, spastic tetraplegia and microcephaly. Her brain MRI revealed corpus callosum agenesis, atrophy of left hemisphere and periventricular heterotopia. She showed bilateral choroidal and optic disc coloboma. We report this case with the review of literatures.

Keyword

Aicardi syndrome; Infantile spasm; Coupus callosum agenesis; Chorioretinal lacunae
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