Agenesis of the dorsal pancreas, a rare cause of diabetes: a case report and review of 25 Japanese patients
Masanori Shimodaira, Naoko Kumagai, Kaoru Tsuzawa, Erisa Sorimachi, Minako Kametaka & Kazufumi Honda
Introduction: Agenesis of the dorsal pancreas, with the absence of the pancreatic body and tail, is a very rare developmental anomaly. To date, only 51 cases have been reported in the English literature. This anomaly can be a cause of diabetes mellitus.
Case report: A 19-year-old Japanese male visited our department because of glucosuria that had been detected during a routine school health check. The patient had undergone cardiac surgery for atrial and ventricular septal defects at the age of 4 years. He denied any history of abdominal trauma, alcohol intake or gastrointestinal problems. Laboratory investigations showed that his fasting hyperglycaemia was 19.7 mmol/l (354 mg/dl), HbA1c level was 12.1% and daily urinary excretion of C-peptide was 43.9 μg/day (normal range: 50100 μg/day). Anti-islet cell antibody and anti-glutamic acid decarboxylase antibody were negative. Computed tomography confirmed that the body and tail of the pancreas were absent, and a magnetic resonance cholangiopancreatography showed that the dorsal pancreatic duct was absent. Based on these findings, a diagnosis of agenesis of the dorsal pancreas was made. The patients blood glucose levels improved with insulin treatment.
Discussion: We found 25 Japanese patients (2283 years, 12 males and 13 females) with clinical descriptions of agenesis of the dorsal pancreas by systematically searching the international and Japanese medical database. In approximately 70% of the reported patients, glucose intolerance or diabetes was demonstrated, and dysfunction of the pancreatic exocrine was found in 60%. Moreover, 28% of the patients had other organ anomalies in cardiopulmonary, gastrointestinal or genitourinary systems.
Conclusion: Agenesis of the dorsal pancreas is rare. However, it is important not to overlook this anomaly, particularly in young patients with diabetes and a history of other congenital organ anomalies.