科凯恩综合征：一例伴高胰岛素血症和生长激素缺乏的病例。
Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency.
作者信息
Park S K, Chang S H, Cho S B, Baek H S, Lee D Y
机构信息
Department of Pediatrics and Internal Medicine, Chonbuk National University Medical School, Chonju, Korea.
出版信息
J Korean Med Sci. 1994 Feb;9(1):74-7. doi: 10.3346/jkms.1994.9.1.74.
Cockayne syndrome is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, mental retardation, photosensitive dermatitis, loss of adipose tissue, pigmentary degeneration of retina, microcephaly, deafness, skeletal and neurologic abnormalities. We describe here an 18 year old boy with Cockayne syndrome who had, in addition to the typical features of the disorder, fasting hyperinsulinemia and growth hormone deficiency.
科凯恩综合征是一种罕见的儿童常染色体隐性疾病，其特征为恶病质样侏儒症伴老年外貌、智力迟钝、光敏性皮炎、脂肪组织减少、视网膜色素变性、小头畸形、耳聋、骨骼和神经异常。我们在此描述一名患有科凯恩综合征的18岁男孩，除了该疾病的典型特征外，他还存在空腹高胰岛素血症和生长激素缺乏。
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