Diabetes mellitus due to agenesis of the dorsal pancreas in a patient with heterotaxy syndrome

Abstract

Heterotaxy syndrome (HS) is a congenital disorder resulting from an abnormal arrangement of visceral organs across the normal left-right axis in the embryonic period. HS is usually associated with multiple anomalies, including defects of the major cardiovascular system and the extracardiovascular system such as intestinal malrotation, abnormal lung lobulation, bronchus anomalies, and pancreatic dysplasia. Although pancreatic dysplasia is occasionally accompanied with HS, the occurrence of diabetes mellitus (DM) due to pancreatic dysplasia in HS is rarely reported. We here report a case involving 13-year-old girl with DM caused by agenesis of the dorsal pancreas and HS diagnosed on the basis of the presence of a double-outlet right ventricle with bilateral pulmonary stenosis and intestinal malrotation with duodenal cyst. Timely diagnosis and treatment with insulin improved glycemic control.

Keywords: Diabetes mellitus; Dorsal pancreas agenesis; Heterotaxy syndrome.

Fig. 1. (A) Axial computed tomography image showing a partial agenesis of pancreas with non-visible tail of the pancreas. Visible portion of the pancreas is just head of the pancreas (white arrow). (B) Axial computed tomography image showing intestinal malrotation of right sided small bowel and left sided large bowel and about 27.95-mm duplication cyst from duodenum with intussusception (arrow 1, left sided large bowel; arrow 2-3, right sided small bowel; arrow 4, duplication cyst from duodenum with intussuception)

Fig. 2. Progression of hemoglobin A1c (HbA1c) in the patient.