Journal of the Korean Child Neurology Society 1998;6(1):118-124

A Case of Cockayne Syndrome.

Jae Yoon KIM ; Jae Hyun PARK ; Joon Soo LEE ; Chang Jun COE

Country

Republic of Korea

Language

Korean

Abstract

Cockayne syndrome is a rare autosomal recessive disorder that results in postnatal growth failure and progressive neurological dysfunction. Associated clinical features are gait disturbance, progressive pigmentary retinopathy and other ocular anomalies such as cataracts and optic disk atrophy, sensorineural hearing loss, dental caries and cutaneous photosensitivity. The disease is clinically heterogeneous with a wide range in the type and severity of symptoms. We experienced a case of Cockayne syndrome in 13 year-old male, who had delayed development, hypophasia, characteristic physical appearance, cutaneous photosensitivity, dental caries. We reported the case with review of literatures.