An Unusual Presentation of Diabetic Ketoacidosis in Familial Hajdu-Cheney Syndrome: A Case Report.
10.3346/jkms.2013.28.11.1682
- Author:
Gil Ho LEE
1
;
So Yeon AN
;
Young Bae SOHN
;
Seon Yong JEONG
;
Yoon Sok CHUNG
Author Information
1. Department of Endocrinology and Metabolism, Ajou University School of Medicine, Suwon, Korea. yschung@ajou.ac.kr
- Publication Type:Case Reports
- Keywords:
Diabetic Ketoacidosis;
Hajdu-Cheney Syndrome
- MeSH:
Adult;
Bone Density;
Craniofacial Abnormalities/complications/radiography;
Diabetes Mellitus, Type 1/*complications/diagnosis;
Diabetic Ketoacidosis/complications/genetics;
Glycosuria;
Hajdu-Cheney Syndrome/*complications/diagnosis/radiography;
Humans;
Ketone Bodies/urine;
Male;
Mutation;
Osteoporosis/complications/radiography;
Receptor, Notch2/*genetics;
Young Adult
- From:Journal of Korean Medical Science
2013;28(11):1682-1686
- CountryRepublic of Korea
- Language:English
-
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.
