Acute pancreatitis caused by a duodenal duplication cyst covering the ampulla of Vater

Duodenal duplication cyst is not a common congenital anomaly and the pathophysiology may become very complicated if the cyst is situated at the ampulla of Vater. Here we report a very rare female case of duodenal duplication cyst at the ampulla of Vater, which caused acute pancreatitis due to massive protein plaques in the pancreatic duct. She had a past history of double duodenal atresia and underwent surgery as a neonate. The correct diagnosis could not be determined before the second operation at four years of age and the exact pathophysiology finally became apparent during the operation with a contrast medium study and duodenotomy. We discuss the complicated clinical features and diagnostic and treatment procedures before and during the operation

A case of congenital autonomous thyroid adenoma with a somatic activating gene mutation in the thyroid-stimulating hormone receptor

We report here a male case of autonomous adenoma (AA) in the thyroid that was caused by a somatic heterozygous mutation in the thyroid-stimulating hormone receptor (TSHR) gene at codon 453, which encodes the second transmembrane domain of the protein. This activating mutation of TSHR induced an increase in cell proliferation that resulted in the development of a thyroid goiter. The patient showed symptoms of hyperthyroidism since perinatal age and developed a thyroid goiter at the age of 1 year. Technetium scan showed a hot spot in the right lobe and weak tracer uptake in the left lobe of the thyroid, which were typical findings in AA. He underwent right hemi-thyroidectomy at 1 year and 10 months of age, and attained complete cure after surgery. Keywords: Thyroid-stimulating hormone receptor, Autonomous adenoma, Thyroidectom

Pancreaticobiliary maljunction (PBM) complicated with complete pancreas divisum

A rare pediatric case of pancreaticobiliary maljunction (PBM) with pancreas divisum is reported. The case showed extremely rare arrangement of the biliary tree and pancreatic duct; the common channel usually seen in PBM did not exist and the common bile duct was connected to the dorsal pancreatic duct via a dilated intermediary duct, in which a large protein plug had formed. The common bile duct was not dilated at all. All of these anomalies may have been caused by abnormal development of the ventral and dorsal pancreatic ducts at an early gestational age.We report a very rare pediatric case of pancreaticobiliary maljunction (PBM) complicated with pancreas divisum. In this case, the common bile duct showed a normal caliber and it was connected to the dorsal pancreatic duct through an intermediary dilated duct, which contained a protein plug that dammed up bile and pancreatic juice flow. This anomaly is very similar to type IIIc3 choledochal cyst, whose classification was addressed by Komi et al. (1), but it differed in the following point; in our case, the common bile duct did not connect to the duodenum through the ampulla of Vater (the common channel was absent) and bile was drained to the duodenum through Santorini duct. These quite rare anomalies might have been caused in the fetus by some kind of maldevelopment of the ventral and dorsal pancreatic ducts. Keywords: Pancreaticobiliary maljunction, Pancreas divisum, Pancreatiti