J Korean Med Sci.  2013 Nov;28(11):1682-1686. 10.3346/jkms.2013.28.11.1682.

An Unusual Presentation of Diabetic Ketoacidosis in Familial Hajdu-Cheney Syndrome: A Case Report

• Lee GH
• An SY
• Sohn YB
• Jeong SY
• Chung YS

• KMID: 1777670
• DOI: http://doi.org/10.3346/jkms.2013.28.11.1682

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

MeSH Terms

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
Ketone Bodies
Receptor, Notch2

Figure

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  Fig. 1 Short and clubbed fingers of the patient.

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  Fig. 2 Radiography of the patient's hand. Arrows show brachydactyly of the 5th finger of each hand, but without obvious osteoporosis or acro-osteolysis.

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  Fig. 3 Radiography of thoracolumbar spine. Arrow shows compression fracture of T12 and L3 spine.

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  Fig. 4 Radiography of skull revealed wormian bone.

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  Fig. 5 The result of bone densitometry of the patient.

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  Fig. 6 Analysis of DNA sequencing. DNA sequencing covering the c.6443T>G mutation of (A) the patient, (B) his mother, and (C) normal control.

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  Fig. 7 The patient had mutant allele with stop codon (p.Leu2148*) compared to normal allele.

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