Cockayne 증후군 1례

A Case of Cockayne Syndrome

저자는 발달지연을 주소로 내원한 13세된 남아에서 성정부진, 신경학적 발달이상, 피부 광과민성, 특징적인 모습, 충치 등의 소견을 보여 임상적으로 Cockayne증후군에 합당한 1례를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

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.