title: An unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case report.
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.
authors.affiliation: Department of Endocrinology and Metabolism, Ajou University School of Medicine, Suwon, Korea.
authors.forename: Gil-Ho
authors.initials: GH
authors.lastname: Lee
authors.forename: So-Yeon
authors.initials: SY
authors.lastname: An
authors.forename: Young Bae
authors.initials: YB
authors.lastname: Sohn
authors.forename: Seon-Yong
authors.initials: SY
authors.lastname: Jeong
authors.forename: Yoon-Sok
authors.initials: YS
authors.lastname: Chung
mesh_terms: D000328:Adult; D015519:Bone Density; D019465:Craniofacial Abnormalities / Q000150:complications / Q000000981:diagnostic imaging; D003922:Diabetes Mellitus, Type 1 / Q000150:complications* / Q000175:diagnosis; D016883:Diabetic Ketoacidosis / Q000150:complications / Q000235:genetics; D006029:Glycosuria; D031845:Hajdu-Cheney Syndrome / Q000150:complications* / Q000175:diagnosis / Q000000981:diagnostic imaging; D006801:Humans; D007657:Ketone Bodies / Q000652:urine; D008297:Male; D009154:Mutation; D010024:Osteoporosis / Q000150:complications / Q000000981:diagnostic imaging; D011859:Radiography; D051883:Receptor, Notch2 / Q000235:genetics*; D055815:Young Adult
chemical_list: D007657:Ketone Bodies; C497764:NOTCH2 protein, human; D051883:Receptor, Notch2
keywords: Diabetic Ketoacidosis; Hajdu-Cheney Syndrome