Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency.
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.
Park
S K
SK
Department of Pediatrics and Internal Medicine, Chonbuk National University Medical School, Chonju, Korea.
Chang
S H
SH
Cho
S B
SB
Baek
H S
HS
Lee
D Y
DY
D000293:Adolescent; D002096:C-Peptide / Q000097:blood; D003057:Cockayne Syndrome / Q000150:complications* / Q000473:pathology; D006130:Growth Disorders / Q000150:complications* / Q000473:pathology; D013006:Growth Hormone / Q000172:deficiency*; D006801:Humans; D006946:Hyperinsulinism / Q000150:complications* / Q000473:pathology; D007328:Insulin / Q000097:blood; D008297:Male; D009896:Optic Atrophy / Q000473:pathology; D012162:Retinal Degeneration / Q000473:pathology
D002096:C-Peptide; D007328:Insulin; D013006:Growth Hormone