Agenesis of the dorsal pancreas

Abstract

During the last 100 years in medical literature, there are only 54 reports, including the report of Pasaoglu et al (World J Gastroenterol 2008; 14: 2915-2916), with clinical descriptions of agenesis of the dorsal pancreas in humans. Agenesis of the dorsal pancreas, a rare congenital pancreatic malformation, is associated with some other medical conditions such as hyperglycemia, abdominal pain, pancreatitis and a few other diseases. In approximately 50% of reported patients with this congenital malformation, hyperglycemia was demonstrated. Evaluation of hyperglycemia and diabetes mellitus in all patients with agenesis of the dorsal pancreas including description of fasting blood glucose, oral glucose tolerance test, glycated hemoglobin and medical treatment would be a future goal. Since autosomal dominant transmission has been suggested in single families, more family studies including imaging technologies with demonstration of the pancreatic duct system are needed for evaluation of this disease. With this letter to the editor, we aim to increase available information for the better understanding of this rare disease.

Key Words: Agenesis of dorsal pancreas; Diabetes mellitus; Glucose intolerance; Abdominal pain; Pancreatitis

TO THE EDITOR

We read with interest the published case report of Pasaoglu et al on agenesis of the dorsal pancreas[1]. Agenesis of the dorsal pancreas is a rare congenital pancreatic malformation and may be associated with some other medical conditions and diseases. During the last 100 years in medical literature, we know of 54 reports with clinical descriptions of agenesis of the dorsal pancreas in humans. We recently summarized systematically all reported patients with agenesis of the dorsal pancreas and discussed the associated medical conditions and diseases[2]. In 1911, the first description of agenesis of the dorsal pancreas was published as an autopsy finding. Now, as new imaging technologies have been developed and improved, the number of patients reported to show agenesis of the dorsal pancreas has increased rapidly over the last years. So far, the findings in autopsy and the radiological descriptions of anatomic pancreatic structures are highly variable and in most cases there is a diagnosis made without description of the pancreatic duct system[2]. In some patients, an enlarged or prominent or compensatory hypertrophy of the pancreatic head is described, whereas other descriptions include normal sized pancreatic head, as well as mildly atrophic and small head of the pancreas. We support the description of Pasaoglu et al[1] and confirm that the diagnosis of agenesis of the dorsal pancreas is inconclusive without demonstration of the absence of the dorsal pancreatic duct, either with endoscopic retrograde or magnetic resonance pancreatography.

Diabetes mellitus comprises a group of metabolic diseases characterized by hyperglycemia resulting from defects in insulin secretion and/or insulin action. Criterion for diagnosis of diabetes mellitus is a fasting blood glucose > 126 mg/dL. Another diagnostic test to differentiate impaired glucose tolerance and diabetes mellitus is the oral glucose tolerance test[3]. Single familial observations of agenesis of the dorsal pancreas suggest autosomal dominant transmission. In one family with agenesis of the dorsal pancreas, a marked defect in hepatic glycogen metabolism, even in non-diabetic offspring, is demonstrated. An impaired index of the first phase insulin secretion in the diabetic and in both non-diabetic family members is described. Since the root cause of most common diabetes mellitus, type 1 and type 2 diabetes, is a decrease in-cell mass, this can be related to reduced-cell mass and might contribute to the development of glucose intolerance which ultimately leads to diabetes mellitus[4].

We suggest that more family studies including imaging technologies with demonstration of the pancreatic duct system are needed. Evaluation of hyperglycemia in all patients with agenesis of the dorsal pancreas including description of fasting blood glucose, oral glucose tolerance test, glycated hemoglobin and medical treatment would be a future goal.