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Journal of the Korean Academy of Rehabilitation Medicine 2000;24(3):576-581.
Aicardi Syndrome: A case report.
Moon, Jeong Lim , Jung, Kyung Heui , Kang, Sae Yoon
Department of Rehabilitation Medicine, School of Medicine, The Catholic University of Korea.
Aicardi 증후군 ⁣증례 보고⁣
문정림, 정경희, 강세윤
가톨릭대학교 의과대학 재활의학교실
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.

Key Words: Aicardi syndrome, Infantile spasm, Coupus callosum agenesis, Chorioretinal lacunae


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