A Case of Cockayne Syndrome.
- Author:
Jae Yoon KIM
;
Jae Hyun PARK
;
Joon Soo LEE
;
Chang Jun COE
- Publication Type:Case Report
- MeSH:
Adolescent;
Atrophy;
Cataract;
Cockayne Syndrome*;
Dental Caries;
Gait;
Hearing Loss, Sensorineural;
Humans;
Male;
Optic Disk;
Retinitis Pigmentosa
- From:
Journal of the Korean Child Neurology Society
1998;6(1):118-124
- CountryRepublic 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.
