• J. Korean Med. Sci. · Nov 2013

    Case Reports

    An unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case report.

    • Gil-Ho Lee, So-Yeon An, Young Bae Sohn, Seon-Yong Jeong, and Yoon-Sok Chung.
    • Department of Endocrinology and Metabolism, Ajou University School of Medicine, Suwon, Korea.
    • J. Korean Med. Sci. 2013 Nov 1; 28 (11): 1682-6.

    AbstractA 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.

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