Ann Pediatr Endocrinol Metab.  2024 Feb;29(1):70-72. 10.6065/apem.2346006.003.

The first case of hyperosmolar diabetic ketoacidosis in a patient diagnosed with MODY 5 (maturity-onset diabetes of the young type 5) and 17q12 microdeletion syndrome

• Lee J
• Kim M
• Yoo S
• Yoon JY
• Cheon CK

• KMID: 2553021
• DOI: http://doi.org/10.6065/apem.2346006.003

Figure

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  Fig. 1. Brain magnetic resonance angiography reveals multifocal microbleeds at the corpus callosum, left frontoparietal lobe, left internal capsule, both thalami, right basal ganglia, and pons, as indicated by the yellow arrows.

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  Fig. 2. Chromosomal microarray test (CytoScan Dx assay, Genome build hg19) results show approximately 1.48 Mbp of microdeletion at 17q12 (34,822, 465-36, 307, 773). The 17q12 microdeletion in this area contains HNF1B, the causative gene of MODY 5 (maturity-onset diabetes of the young type 5).

Reference

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