Cockayne 증후군 1례

• 영문명: A Case of Cockayne Syndrome
• 발행기관: 대한소아신경학회
• 저자명: 김재윤(Jae Yoon Kim) 박재현(Jae Hyun Park) 이준수(Joon Soo Lee) 고창준(Chang Jun Coe)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제6권 제1호, 118~124쪽, 전체 7쪽
• 주제분류: 의약학 > 의학일반
• 파일형태: PDF
• 발행일자: 1998.10.20

국문 초록

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.

영문 초록

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.

키워드

Cockayne syndrome Photosensitivity