Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency.

Author: Sun Kyu PARK ¹ ; Soo Hee CHANG ; Seog Beom CHO ; Hong Sun BAEK ; Dae Yeol LEE
Author Information

1. Department of Pediatrics and Internal Medicine, Chonbuk National University Medical School, Chonju, Korea.
Publication Type:Case Reports
MeSH: Adolescent; C-Peptide/blood; Cockayne Syndrome/*complications/pathology; Growth Disorders/*complications/pathology; Growth Hormone/*deficiency; Humans; Hyperinsulinism/*complications/pathology; Insulin/blood; Male; Optic Atrophy/pathology; Retinal Degeneration/pathology
From:Journal of Korean Medical Science 1994;9(1):74-77
CountryRepublic of Korea
Language:English
Abstract: 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.