Open AccessAn Unusual Presentation of Diabetic Ketoacidosis in Familial Hajdu-Cheney Syndrome: A Case Report
Author(s) -
GilHo Lee,
Soyeon An,
Young Bae Sohn,
SeonYong Jeong,
YoonSok Chung
Publication year - 2013
Publication title -
journal of korean medical science/journal of korean medical science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.743
H-Index - 66
eISSN - 1598-6357
pISSN - 1011-8934
DOI - 10.3346/jkms.2013.28.11.1682
Subject(s) - diabetic ketoacidosis , medicine , diabetes mellitus , endocrinology , craniofacial , osteoporosis , craniofacial abnormality , insulin , presentation (obstetrics) , pediatrics , surgery , psychiatry
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.