Intestinal Behçet's disease complicated by myelodysplastic syndrome and secondary pulmonary alveolar proteinosis: a case report.

BACKGROUND: Gastrointestinal lesions, which sometimes develop in Behçet's disease (BD), are referred to as intestinal BD. Although rare, intestinal BD can be accompanied by myelodysplastic syndrome (MDS) with abnormal karyotype trisomy 8, which is refractory to immunosuppressive therapy. Pulmonary alveolar proteinosis is a rare lung complication of BD and MDS. Herein, we present an extremely rare case of intestinal BD presenting with MDS and several chromosomal abnormalities, followed by secondary pulmonary proteinosis. CASE PRESENTATION: A 58-year-old Japanese woman with a 3-year history of genital ulcers and oral aphthae was admitted to our hospital. The patient developed abdominal pain and persistent diarrhea. Colonoscopy revealed multiple, round, punched-out ulcers from the terminal ileum to the descending colon. Intestinal BD was diagnosed and the patient was treated with colchicine, prednisolone, and adalimumab. However, her symptoms were unstable. Bone marrow examination to investigate the persistent macrocytic anemia revealed the presence of trisomy 8, trisomy 9, and X chromosome abnormalities (48, + 8, + 9, X, i(X) (q10) in 12 out of the examined 20 cells). Based on her hypoplastic bone marrow, the patient was diagnosed with low-risk MDS (refractory anemia). At the age of 61, the patient developed pneumonia with fever and diffuse ground-glass opacities on the lung computed tomography (CT). Chest high-resolution CT and histopathology via transbronchial lung biopsy revealed the presence of pulmonary alveolar proteinosis (PAP). These findings combined with the underlying disease led to the diagnosis of secondary PAP. CONCLUSIONS: Secondary pulmonary proteinosis may accompany intestinal BD with MDS and several chromosomal abnormalities. Physicians should pay attention to lung complications, such as PAP, in patients with intestinal BD complicated by MDS. Genetic abnormalities may be associated with the development of such diseases.

[Adult case of hypoganglionosis of the colon with a skip lesion: a case report].

A 77-year-old woman was referred for severe constipation and abdominal distension which had lasted for 1 month. A computed tomography (CT) scan and a colonoscopy revealed segmental stricture in the transverse and descending colons. After no improvement in her symptoms was observed with conservative therapy, we performed a left hemicolectomy. Histopathological examination revealed a reduction in ganglion cells in the Meissner's and Auerbach's plexuses and hypoganglionosis was diagnosed. In addition, a diagnosis of acquired hypoganglionosis was made because this case was adult onset, and there has been no recurrence.

[Hemobilia caused by hepatic artery pseudoaneurysm after endoscopic biliary stenting for malignant hilar biliary strictures:a case report].

A 78-year-old female presented at our hospital with hilar biliary strictures caused by gallbladder cancer. Metal stents with a dilated diameter of 8mm were placed in a side-by-side fashion in the left and right hepatic ducts. However, 3 months after stenting, the patient experienced a sudden onset of hematemesis. Emergent enhanced abdominal angiography revealed a right hepatic arterial pseudoaneurysm that had likely ruptured, thus causing the hemobilia. Probable association of biliary stents with pseudoaneurysm was also demonstrated. Selective angiography revealed bleeding from the pseudoaneurysm into the biliary stents, which was controlled by coil embolization. The patient was subsequently discharged on hospital day 15.

[Nonalcoholic steatohepatitis after pancreatoduodenectomy with rapid progression of hepatic fibrosis: a case report].

A 64-year-old woman who had undergone pancreatoduodenectomy for intraductal papillary mucinous carcinoma 10 months previously was referred to our department complaining of ascites and general malaise. Abdominal computed tomography (CT) showed a markedly decreased hepatic CT value. Liver biopsy revealed nonalcoholic steatohepatitis. Treatment with nutritional control and pancreatic enzyme supplements improved liver function. Exocrine pancreatic enzyme insufficiency from chronic pancreatitis is considered to be a cause of rapid progression of hepatic steatosis.

Case of presymptomatic aceruloplasminemia treated with deferasirox.

Aceruloplasminemia is an autosomal recessive disease characterized by an abnormal iron metabolism. The absence of ferroxidase activity caused by mutation of ceruloplasmin leads to iron overload in the brain, liver and other organs. We report a 35-year-old man who was diagnosed with aceruloplasminemia without neurological manifestation despite the accumulation of iron in the brain and liver. To prevent the development of neurodegenerative disorder related to iron toxicity, iron depletion therapy was performed. Iron chelator deferasirox was effective in reducing serum ferritin level and to prevent the progression of the disease.

[A case of liver metastasis occurring 20 years after the resection of an ileal neuroendocrine tumor].

A 70-year-old man with multiple liver tumors was referred to our hospital in 2011. He was histologically diagnosed with a neuroendocrine G1 tumor (World Health Organization classification) following biopsy. He had a history of surgery for an ileal neuroendocrine tumor in 1991. Therefore, the liver tumors were diagnosed as metastases from the ileal neuroendocrine tumor. The patient was successfully treated with hepatic artery embolization, radiofrequency ablation, and octreotide. This report suggests that long-term follow-up with diagnostic imaging may be required for patients with ileal neuroendocrine tumors, even 20 years after the primary surgery.

A case of gallbladder neuroendocrine carcinoma complicated by ectopic adrenocorticotropic hormone syndrome and resulting in rapid fetal outcomes due to sepsis.

A 52-year-old woman presented to our hospital with chief complaints of upper abdominal bloating and lower leg edema. Computed tomography (CT) revealed liver metastasis from a gallbladder tumor. This tumor was diagnosed as neuroendocrine carcinoma (NEC) on performing a biopsy. Physical examination revealed a moon face. Blood tests revealed hypokalemia and high levels of adrenocorticotropic hormone (ACTH) and cortisol. Dexamethasone suppression test revealed that cortisol secretion was not suppressed, and the patient was diagnosed with gallbladder NEC and ectopic ACTH syndrome (EAS). Metyrapone was administered to suppress cortisol production; however, she developed septic shock due to cellulitis in the lower leg and died on the 16th day of admission. A pathological autopsy was performed, which revealed disseminated intravascular coagulation and acute respiratory distress syndrome as the cause of death. Only a few cases of EAS due to NEC originating from the gallbladder have been reported. The patient reported here succumbed shortly after diagnosis, thereby highlighting the challenges in treating gallbladder NEC complicated by EAS.

Neurofibromatosis Type 1 with a Giant Diffuse Plexiform Neurofibroma Invading the Liver.

Plexiform neurofibromas (PNs) occur in approximately 50% of patients with neurofibromatosis type 1 (NF1). PNs are rare in the abdominal cavity and especially rare in hepatobiliary lesions. A 31-year-old man with NF1 had a tumor extending along the celiac artery, superior mesenteric artery, and intrahepatic portal vein. We diagnosed him with diffuse PN based on liver tumor biopsy findings and the tumor form. Because the tumor had invaded along the intrahepatic portal vein, surgical resection was deemed difficult, and the patient was followed up with imaging studies. The patient remained asymptomatic without tumor growth.

IgG4-related hepatic inflammatory pseudotumor in a patient with serum IgG4-negative type 1 autoimmune pancreatitis.

IgG4-related disease (IgG4-RD) can cause heterogeneous lesion in various organs. Serum IgG4 levels are useful in monitoring patients with IgG4-RD; however, when it is negative, more careful observation is required. A 58-year-old woman who had been diagnosed with serum IgG4-negative type 1 autoimmune pancreatitis (AIP) 3 years prior visited our hospital for the evaluation of a liver tumor. She had visited a nearby hospital 1 month prior with complaints of a swelling in her right neck, and histological examinations were suggestive of IgG4-related sialadenitis. A positron emission tomography scan showed fluoro-deoxy-glucose accumulation in her right liver lobe; therefore, she was referred to our hospital. Liver tumor biopsy showed inflammatory cell infiltration and storiform fibrosis, without histological findings indicative of a malignancy. Many IgG4-positive cells were detected in immunostaining; thus, an IgG4-related hepatic inflammatory pseudo-tumor was diagnosed. After increasing in steroid dosage, the patient remained recurrence-free with 2 years. To our knowledge, this is the first report of mass-forming IPT for serum IgG4-negative type 1 AIP. Occasionally, IgG4-related IPT may appear in the periphery of the liver, and serum IgG4-negative cases should be more carefully observed because serum IgG4 is not an indicator.

Transarterial embolization for ruptured pancreaticoduodenal artery aneurysm due to segmental arterial mediolysis combined with median arcuate ligament syndrome: a case report.

A 75-year-old female with a history of Parkinson's disease treatment and hypertension presented at the emergency section with sudden onset of right abdominal pain. Contrast-enhanced computed tomography revealed beaded irregular stenosis and dilation of the superior mesenteric artery (SMA) and an aneurysm in the branch of the pancreaticoduodenal artery (PDA) that communicates with the common hepatic artery and SMA. Additionally, a hematoma had formed in the retroperitoneal space, and extravasation of contrast medium from the pancreaticoduodenal artery aneurysm (PDAA) into the hematoma was observed. The celiac artery (CA) was compressed by the median arcuate ligament; stenosis of the CA at its origin and dilation on the distal side were observed. Based on the imaging findings, it was diagnosed that PDAA was ruptured, SMA developed segmental arterial mediolysis (SAM), and CA developed median arcuate ligament syndrome (MALS). The ruptured PDAA was thought to be caused by SAM combined with MALS. Transcatheter arterial embolization (TAE) was performed for the ruptured PDAA. To the best of our knowledge, there have been no reports of TAE for a ruptured PDAA caused by SAM and MALS. After TAE, the PDAA did not re-rupture.

Autoimmune hepatitis complicated by adult-onset Still's disease during treatment with tocilizumab: A case report from acute onset to recurrence.

The characteristics of liver dysfunction due to adult-onset Still's disease are not specific. Differentiating from autoimmune hepatitis is important in deciding whether to continue corticosteroid therapy, and also in terms of management of cirrhosis and surveillance of hepatocellular carcinoma. Liver biopsy is thought to be the most important determinant for differential diagnosis.

Inflammatory Hepatocellular Adenoma with Elevated Serum Protein Induced by Vitamin K Absence/Antagonist-II in Adult Males.

Two men (24 and 34 years of age) with a single hypervascular liver tumor were admitted to our hospital. The tumors were diagnosed as hepatocellular adenoma (HCA) by an ultrasound-guided biopsy and classified as inflammatory type by immunohistochemical staining. Considering the risk of malignant transformation, they underwent surgical resection. Although the serum levels of protein induced by vitamin K absence/antagonist-II (PIVKA-II) were slightly elevated, they normalized after the resection. The diagnosis of HCA including malignant transformation is often difficult by image findings alone. Careful immunohistochemical examinations are very useful for the diagnosis and classification of subgroups, including malignant transformation. In addition, we proved that HCA without malignant transformation expresses PIVKA-II.

[A case of pancreatic malignant lymphoma diagnosed by EUS-FNA].

A 57-year-old woman was admitted to the hospital because of obstructive jaundice. Abdominal computed tomography and ultrasonography showed a homogeneous mass 7cm in diameter at the head of the pancreas. Gamma-scintigraphy showed uptake in the head of the pancreas. Histological diagnosis was obtained by endoscopic ultrasoundscopy-fine needle aspiration (EUS-FNA). The pathological and immunohistochemical studies showed diffuse lymphoma with large B-cells. We experienced a rare case of pancreatic malignant lymphoma and EUS-FNA was usefull in the diagnosis.

Spontaneous Regression of Hepatocellular Carcinoma with Portal Vein Tumor Thrombus.

An 83-year-old man underwent transcatheter arterial chemoembolization (TACE) for a 20-mm hepatocellular carcinoma (HCC) in Couinaud's segment 4. Computed tomography (CT) 4 months after TACE showed tumor thrombus in the portal vein in addition to diffuse metastases and arterioportal shunts in the left lobe. Although we performed the best supportive care, the tumor thrombus in the portal vein and tumors in the left lobe had completely disappeared on CT 16 months after the TACE. Rapidly grown portal vein tumor thrombus and arterioportal shunt might be the causes of spontaneous regression of HCC, probably associated with tumor hypoxia.

[Congenital absence of the portal vein in an adult woman with liver tumor].

A 30-years-old Japanese woman with a liver tumor was found to have congenital absence of the portal vein (CAPV). Both three-dimensional CT and angiography revealed that the superior mesenteric vein and splenic vein flowed into inferior vena cava and there was us portal vein, CAPV is an extremely rare congenital anomaly and liver tumor. Most cases on diagnosed in childhood, although this case was found in on adult. We reviewed the literature on reported CAPV cases.

Successful chemotherapy with modified FOLFIRINOX for pancreatic acinar cell carcinoma.

Abdominal ultrasonography revealed a pancreatic mass in a 67-year-old man with diabetes mellitus. Endoscopic ultrasound-guided fine needle aspiration led to the histological diagnosis of acinar cell carcinoma. The clinical stage was determined to be IVb based on findings of multiple metastatic lesions in the liver and lymph nodes, as well as splenic vein infiltration. Because the patient was not a surgical candidate, he underwent chemotherapy with modified FOLFIRINOX. In the absence of any severe adverse events, 12 courses of chemotherapy were delivered, resulting in marked shrinkage of both the primary and metastatic lesions. The outcome was judged to be a partial response, which was maintained even 9 months from the introduction of the chemotherapy. The results of this case suggest that modified FOLFIRINOX is safe and effective in the treatment of pancreatic acinar cell carcinoma.

Copper Accumulates in Hemosiderins in Livers of Patients with Iron Overload Syndromes.

In biology, redox reactions are essential and sometimes harmful, and therefore, iron metabolism is tightly regulated by cuproproteins. Since the state of copper in iron overload syndromes remains unclear, we investigated whether copper metabolism is altered in these syndromes. Eleven patients with iron overload syndromes participated in this study. The clinical diagnoses were aceruloplasminemia (n=2), hemochromatosis (n=5), ferroportin disease (n=2), and receiving excess intravenous iron supplementation (n=2). Liver specimens were analyzed using a light microscope and transmission electron microscope equipped with an X-ray analyzer. In addition to a large amount of iron associated with oxygen and phosphorus, the iron-rich hemosiderins of hepatocytes and Kupffer cells contained small amounts of copper and sulfur, regardless of disease etiology. Two-dimensional imaging clearly showed that cuproproteins were distributed homogenously with iron complexes within hemosiderins. Copper stasis was unlikely in noncirrhotic patients. The enhanced induction of cuproproteins by excess iron may contribute to copper accumulation in hemosiderins. In conclusion, we have demonstrated that copper accumulates in hemosiderins in iron overload conditions, perhaps due to alterations in copper metabolism.

High-dose interferon-alpha therapy lowers the levels of serum fibrogenesis markers over 5 years in chronic hepatitis C.

We examined the levels of serum N-terminal peptide of type III procollagen (P-III-NP) and the 7S domain of type IV collagen (IV-7S) as fibrogenesis markers in patients with chronic hepatitis C to clarify whether high-dose interferon-alpha (IFN-alpha) therapy has a suppressive effect on hepatic fibrogenesis for a long period (over 5 years) after the cessation of IFN therapy. Eighty patients with CHC were given 10 million units of IFN-alpha2b daily for 14 days followed by three times per week for a total of 24 weeks. Patients were divided into the following three groups according to the highest serum alanine aminotransferase levels during 1 year observation after the end of IFN therapy: complete responders (CR), partial responders (PR), and nonresponders (NR). We measured serum fibrogenesis markers before and at the end of IFN therapy, and again 1 year and more than 5 years after the end of IFN therapy. Liver biopsies were performed before IFN therapy in all patients and again over long-term observation in 10 patients (PR; 5 and NR; 5). Serum P-III-NP levels significantly decreased after IFN therapy in all three groups of patients, and further decreased in CR and PR over long-term observation. Serum IV-7S levels in CR significantly decreased after IFN therapy and further decreased over long-term observation. Serum IV-7S levels over long-term observation were significantly lower than those at the end of IFN therapy in CR and PR and significantly lower than the initial values in all three groups of patients. The progression of fibrosis was not significant over long-term observation in liver biopsy specimens of 10 patients. The results of the present study suggest that high-dose IFN-alpha therapy for 6 months suppresses the progression of hepatic fibrosis for more than 5 years not only in CR but also in PR.

Self-limited colitis during the course of rubella and cytomegalovirus infection in an immunocompetent adult.

We report a case of self-limited colitis in cytomegalovirus (CMV) infection in an immunocompetent adult. A 22-year-old man developed a high fever and diarrhea. Laboratory data revealed an increased number of lymphocytes and liver damage. Enzyme immunoassays for anti-virus antibodies revealed that the patient was recently infected with CMV and rubella. Colonoscopy revealed severe erosive and edematous mucosa that resembled ulcerative colitis (UC). The symptoms, laboratory data and colonoscopic findings improved without any medical treatment. This case indicates that UC-like self-limited colitis can occur in an immunocompetent individual during the course of CMV infection.

Nutrition in the Great East Japan Earthquake Disaster.

The Great East Japan Earthquake Disaster (GEJED) struck the northeast region of Honshu, the main island of Japan, on March 11, 2011. This mega-disaster claimed more than 15,000 lives, with approximately 3000 later deaths being disaster related. The GEJED consisted of a mega-earthquake, tsunami, and nuclear accident. Survivors living in temporary shelters might have received insufficient levels of vitamins, with the exception of vitamin B1, which appeared to be overestimated, and excess levels of sodium. However, scientific data collection and surveys following the GEJED were extremely limited. This experience highlights the need to prepare an "emergency nutrition assessment" system for optimal nutrition in future disasters.