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Hepatocyte nuclear factor-1 beta (HNF1B) gene is predominantly expressed in the liver, kidney, lung, genitourinary tract, and pancreas. It is an important transcription factor that regulates pancreas development. Mutation or absence of this gene is rare and can cause incomplete pancreatic development known as the agenesis of the dorsal pancreas. This rare genetic abnormality is associated with other disorders like maturity-onset diabetes of the young, abnormal liver function tests, genitourinary tract malformation, pancreatitis, and renal cysts. Diagnosing this genetic abnormality is difficult, especially in patients presenting with symptoms specific to only one system. Management is based on disease manifestation and involves a multidisciplinary approach. Our case describes a 51-year-old female with poorly controlled diabetes mellitus and Mullerian duct anomalies who presented with abdominal pain, fatigue, dizziness, and electrolyte derangement. Contrast-enhanced computed tomography (CECT) of the abdomen showed a multicystic kidney and a pancreatic head with a missing body and tail. Further workup revealed an HNF1B mutation. [ABSTRACT FROM AUTHOR]

Abstract Background Agenesis of the dorsal pancreas (ADP) is clinically rare, and it is usually accompanied by abdominal pain. Various disorders of glucose metabolism associating with ADP have been reported, but there are only two studies reporting a correlation between ADP and DKA in English literature. Case presentation We present a case of a patient with ADP accompanied by abdominal pain and diabetic ketoacidosis as the initial clinical presentation. A 30-year-old man presented with a 3-month history of recurrent onset of persistent mild epigastric pain, which worsen when eating. Laboratory tests revealed metabolic acidosis, hyperglycemia, and ketonuria. Phase contrast CT and MRCP showed the absence of the body and tail of the pancreas, as well as the dorsal pancreatic duct. The C-peptide release test indicated β-cell dysfunction. A combination therapy of insulin, pancreatic enzyme supplements, and mosapride citrate were administrated and the pain gradually resolved. Conclusions As glucose metabolism disorders can vary across different individuals, we advise clinicians to consider the diagnosis of ADP for a patient who presents with a glucose metabolism disorder accompanied by abdominal pain, pancreatitis or steatorrhea.

Background: Agenesis of the dorsal pancreas (ADP) is a rare disease, the pathogenic mechanism of which is partially related to variants of hepatocyte nuclear factor 1B (HNF1B) gene. Case Presentation: We report a case of ADP, which presented with acute ketoacidosis, hyperuricemia, and liver dysfunction. In this case, the HNF1B score was estimated as 16 and a heterozygous variant of HNF1B in exon 2 (c.513G>A-p.W171X) was identified through gene sequencing. Conclusions: A good understanding of the clinical comorbidities of ADP is essential for avoiding missed diagnosis to a great extent. Moreover, estimation of HNF1B score is recommended before genetic testing. [ABSTRACT FROM AUTHOR]

BackgroundAgenesis of the dorsal pancreas (ADP) is a rare disease, the pathogenic mechanism of which is partially related to variants of hepatocyte nuclear factor 1B (HNF1B) gene.Case PresentationWe report a case of ADP, which presented with acute ketoacidosis, hyperuricemia, and liver dysfunction. In this case, the HNF1B score was estimated as 16 and a heterozygous variant of HNF1B in exon 2 (c.513G>A-p.W171X) was identified through gene sequencing.ConclusionsA good understanding of the clinical comorbidities of ADP is essential for avoiding missed diagnosis to a great extent. Moreover, estimation of HNF1B score is recommended before genetic testing.

Key Clinical Message Dorsal agenesis of the pancreas is a rare congenital anomaly. Fifty-eight cases were reported from 1913 till 2015, nine of which were associated with tumors. We present the 10th case, the first to be associated with pancreatic mucinous adenocarcinoma and cystic teratoma, successfully managed by Whipple procedure and total pancreatectomy. [ABSTRACT FROM AUTHOR]

Abstract: A 59-year-old Japanese woman was referred to our hospital due to upper abdominal pain. At the age of 44, she was diagnosed with a congenital choledochal cyst, Todani''s type Ic. She then underwent bypass operation with end-to-side choledochojejunostomy with Roux-en-Y technique as well as cholecystectomy. Magnetic resonance cholangiopancreatography revealed an ‘oval’ shaped cystic lesion with a maximal diameter of 25mm, which had been ‘spindle’ shaped with a maximal diameter of 18mm, 15 years ago. It also showed an anomalous pancreaticobiliary ductal union. In addition, a complete absence of the dorsal primordia of pancreas was revealed by magnetic resonance image and computed tomography scan. The patient underwent the surgical exploration for the resection of the ‘oval’ shaped cystic lesion. Haematoxylin and eosin staining of the thin section of the resected cyst showed a compact spindle cell pattern which was compatible with schwannoma, Antoni type A, which was confirmed by immunocytochemical technique. We present a very interesting case showing choledochal cyst, anomalous pancreaticobiliary ductal union, total agenesis of the dorsal pancreas and late-development of bile duct schwannoma in the remnant choledochal cyst. [Copyright &y& Elsevier]

We report the first documented case of a solid and papillary tumor of the pancreas (SPT) complicating agenesis of the dorsal pancreas. A 28-year-old female patient was referred to our hospital for a pancreatic tumor detected at a local hospital. The laboratory findings were all within normal limits. Diagnostic images revealed absence of the dorsal pancreas and the presence of a tumor located in the head of the pancreas. The tumor was solid, well demarcated, noncalcified, and hypovascular. Fine-needle aspiration cytology revealed that larger cell clumps often had a branching papillary appearance, with multiple layers of tumor cells surrounding central vascular stalks; a preoperative diagnosis of SPT was made. At surgery, on February 10, 1999, the tumor was found to have clear margins, and it showed no signs of direct invasion of adjacent structures. No metastases were found in the liver or the local lymph nodes. Accordingly, partial resection of the pancreas, including the entire tumor, was performed, and, thus, almost the entire head of the pancreas could be saved. Microscopic examination of the resected specimen yielded findings compatible with SPT. No recurrences, and no impairment of pancreatic endocrine or exocrine function have been noted since the operation. [ABSTRACT FROM AUTHOR]