J Korean Med Sci. 1994 Feb;9(1):74-77. English.
Published online Jun 19, 2009.
https://doi.org/10.3346/jkms.1994.9.1.74
Published online Jun 19, 2009.
https://doi.org/10.3346/jkms.1994.9.1.74
Copyright © 1994 The Korean Academy of Medical Sciences
Case Report
Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency
Sun Kyu Park,
Soo Hee Chang,
Seog Beom Cho,
Hong Sun Baek
and Dae Yeol Lee
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.
MeSH Terms
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