Wilson's disease is one of many potential differential diagnoses in patients with unknown liver injury or liver cirrhosis. Many patients are diagnosed in early childhood, but rare cases may not be revealed until adulthood, and of these, most present with liver cirrhosis. While some patients can be diagnosed by the examination of serum ceruloplasmin and urinary copper levels, there are patients in whom ATP7B genetic testing and hepatic copper content measurement are indicated. Diagnostic guidelines for Wilson's disease were proposed by the American Association for the Study of Liver Diseases in 2008, the European Association for the Study of the Liver in 2012, and the Japan Society of Hepatology along with affiliated societies in 2015. Even in patients in whom making a diagnosis was problematic, we were able to establish confirmation of Wilson's disease in patients with unknown adulthood liver dysfunction using these established guidelines. In this paper, we present the cases of patients with Wilson's disease treated by the administration of copper chelating agents in our department using diagnostic criteria and further provide flow charts of each guideline. We also report the utility of this approach.
A 62-year-old man with epigastralgia was referred to our hospital for the evaluation of an intractable duodenal ulcer, which did not improve following proton pump inhibitor treatment. An upper gastrointestinal endoscopy revealed that the base of the ulcer was gray-white in color with conspicuous fibrosis tissue, unlike the appearance of common ulcers. A contrast-enhanced abdominal CT scan and angiography revealed tortuous and dilated vascular structures in the pancreatic head. This was diagnosed as a pancreatic arteriovenous malformation. We suggest that the intractable duodenal ulcer was caused by the pancreatic arteriovenous malformation. Therefore, we performed a pancreaticoduodenectomy. Pancreatic arteriovenous malformations should be considered as one of the causes of treatment-resistant duodenal ulcers.
A 64-year-old woman was diagnosed with unresectable pancreatic cancer and underwent chemotherapy. However, the number of leukocytes significantly increased as the disease progressed. Serum G-CSF values also increased, and she eventually died on day 511 after diagnosis. Immediately after autopsy, immunohistochemical staining with an anti-G-CSF monoclonal antibody was positive in the poorly differentiated adenocarcinoma area of the primary pancreatic cancer and liver metastatic foci, but negative in the well-differentiated tubular adenocarcinoma part of the primary pancreatic cancer. During de-differentiation, invasive pancreatic ductal carcinoma appeared to have changed to a tumor that produced G-CSF.
An 89-year-old woman with a history of traumatic injury was referred to our hospital for further evaluation of anemia. Two days after colonoscopy, she complained of intermittent abdominal pain. An abdominal computed tomography confirmed a left diaphragmatic defect with a herniated transverse colon. She underwent elective laparoscopic repair of the diaphragmatic hernia. Colonoscopy rarely causes or worsens a diaphragmatic hernia. This is a rare case where we observed the development and exacerbation of a diaphragmatic hernia. It is important to pay attention to the development of a diaphragmatic hernia after colonoscopy for patients with a history of traumatic injury.
We encountered two cases of perforated duodenal diverticulum successfully treated with conservative therapy. The first case involved a 72-year-old man who presented with abdominal pain and fever. An abdominal computed tomography revealed pneumoretroperitoneum. The second case involved a 90-year-old woman who presented with abdominal pain, vomiting, and fever. An abdominal computed tomography also revealed pneumoretroperitoneum and fluid collection. In both the cases, we initiated conservative therapy with parenteral nutrition and intravenous antibiotic therapy because the patients' general condition was good and the pneumoretroperitoneum was localized. Both patients were cured without serious complications and were discharged from the hospital 14 days after admission. Conservative treatment may be useful in the patients with early stage of perforated duodenal diverticulum and a good general condition without impending sepsis. However, in case of disease aggravation, careful observation and preparation for immediate surgical drainage are desired.
An asymptomatic pancreatic tumor was discovered in a 77-year-old man during a medical check-up. An abdominal computed tomography (CT) and magnetic resonance imaging (MRI) revealed a cystic mass containing a septum-like solid portion in the head of the pancreas, measuring 3.5cm in diameter. Additionally, abdominal contrast-enhanced ultrasonography (US) revealed increased flow in the solid portion and a tumor capsule in its early phase. We preoperatively diagnosed the lesion as a cystic-degenerated pancreatic neuroendocrine tumor or solid-pseudopapillary tumor and performed a pancreatoduodenectomy. Histopathological examination revealed a cystic pancreatic mass consisting of spindle-shaped cells, with S-100-positive and SMA-negative immunohistochemical stainings. This lesion was diagnosed as a pancreatic schwannoma from these findings.