|
KMID : 0191120130280111682
|
|
Journal of Korean Medical Science
2013 Volume.28 No. 11 p.1682 ~ p.1686
|
|
|
An Unusual Presentation of Diabetic Ketoacidosis in Familial Hajdu-Cheney Syndrome: A Case Report
|
|
Lee Gil-Ho
An So-Yeon
Sohn Young-Bae
Jeong Seon-Yong
Chung Yoon-Sok
|
|
|
Abstract
|
|
|
|
A 21-year-old man with diabetic ketoacidosis (DKA) displayed short and clubbed fingers and marked eyebrow, which are typical of Hajdu-Cheney Syndrome (HCS). Laboratory findings confirmed type 1 diabetes mellitus (DM). After conservative care with hydration and insulin supply, metabolic impairment was improved. Examinations of bone and metabolism revealed osteoporosis and craniofacial abnormalities. The mutation (c.6443T>G) of the NOTCH2 gene was found. The patient was diagnosed with HCS and DM. There may be a relationship between HCS and DM, with development of pancreatic symptoms related to the NOTCH2 gene mutation.
|
|
|
KEYWORD
|
|
|
Diabetic Ketoacidosis, Hajdu-Cheney Syndrome
|
|
|
FullTexts / Linksout information
|
|
|
|
|
Listed journal information
|
|
    
|