Agenesis of the dorsal pancreas: a rare cause of diabetes

Abstract

A 19-year-old Japanese man visited our department presenting with glycosuria that had been detected during a routine school urinalysis. The patient had undergone cardiac surgery at the age of 4 years for atrial and ventricular septal defects, and pulmonary artery stenosis. He denied any history of abdominal trauma, drug or alcohol intake, or gastrointestinal problems. His maternal grandmother had mild diabetes that began in middle age; whereas, his parents had no significant medical history including diabetes.The physical examination revealed an emaciated young man with a body mass index of 19.3, but otherwise a normal examination. Laboratory studies were: fasting hyperglycaemia of 19.7 mmol/l (354 mg/dl) without ketosis. The HbA1c was 12.1%, urinary excretion of C-peptide 43.9 lg/day (normal range 50-100 lg/day). The anti-islet cell and anti-glutamic acid decarboxylase antibodies were negative. The serum total amylase level was normal, 49 U/l (normal range 40-180 U/l); whereas, the levels of serum pancreatic enzymes p-type amylase, lipase, trypsin and phospholipase A 2 were decreased to 8 U/l (normal range 17-50 U/l), 10 U/l (13-49 U/l), 50 U/l (100-550 U/l) and 100 U/l (130-400 U/l), respectively. Ultrasonography (US) of the abdomen could not identify the body of the pancreas, although the head and uncus were clearly visible. Computed tomography (CT) and magnetic resonance imaging (MRI) confirmed that most of the body and the tail of the pancreas were absent, and that the pancreatic head was slightly enlarged (Fig. 1). Magnetic resonance cholangiopancreatography (MRCP) revealed that the dorsal pancreatic duct was absent. Based on these findings, a diagnosis of agenesis of the dorsal pancreas was made. Insulin replacement therapy was initiated, and currently, the diabetes is well controlled with 4 U of insulin per day. There are no signs of any diabetes-related renal, retinal or neurological changes. His blood glucose levels have improved after beginning insulin therapy, and he is being followed up as a hospital outpatient. DiscussionDevelopmental anomalies of the pancreas are rarely seen. Pancreas divisum is the most common anomaly. However, agenesis of the dorsal pancreas, with the absence of the pancreatic body and tail is very rare; only 53 cases have been described in medical literature in the last 100 years [1].The embryology of the pancreas is complex. During gastrulation, the epiblast comprised multipotential cells that differentiate into three embryonic layers: ectoderm, endoderm and mesoderm. The gastrointestinal organs, including the pancreas, are derived from the endoderm. The pancreas develops embryologically from a dorsal and a ventral bud on opposite sides of the foregut. Morphogenetically, the ventral pancreatic bud goes on to form the posterior part of the head, and the dorsal pancreatic bud contributes mainly to the formation of the tail and body. During the growth and the rotation of the gut tube in the seventh week of gestation, the two buds fuse. As these two buds grow, each bud develops a ...

Agenesis of the dorsal pancreas presenting with diabetic ketoacidosis – a case report and literature review

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

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