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1.  A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe 
BMC Gastroenterology  2015;15:90.
Congenital lactase deficiency is an extremely rare gastrointestinal disorder characterized by neonatal-onset watery diarrhoea and failure to thrive. We present the first genetically confirmed case of congenital lactase deficiency in Central Europe.
Case presentation
After an uneventful pregnancy and birth, a male newborn of consanguineous parents of Turkish origin presented with watery diarrhoea. On day 17, he was admitted to hospital with weight loss, hypertonic dehydration, and metabolic acidosis. Additionally, the patient showed an elevated calcium concentration in blood and urine as well as nephrocalcinosis. Diarrhoea stopped during intravenous rehydration and when feeding a glucose-, galactose-, and lactose-free formula. Therefore, glucose-galactose-malabsorption was assumed. However, genetic testing of the SGLT1 (SLC5A1) gene was negative and, indeed, feeding maltodextrine did not result in recurrence of diarrhoea. In contrast, lactose feeding immediately caused watery diarrhoea, suggesting congenital lactase deficiency. Genetic testing of the LCT gene revealed homozygosity for a 1-bp deletion in exon 8 (c.3448delT). Because of the nature of the mutation, causing a frame shift and a premature termination of translation, congenital lactase deficiency was confirmed and intestinal biopsies were unnecessary. The patient’s general condition improved substantially on a lactose-free diet, including hypercalcaemia, hypercalciuria, and nephrocalcinosis which, however, only disappeared after months.
This case demonstrates (a) that congenital lactase deficiency should be considered in cases of severe neonatal diarrhoea, (b) that intestinal biopsies can be avoided in typical cases that are confirmed by genetic testing, and (c) that the associated nephrocalcinosis can be reversed on diet and an appropriate fluid management.
PMCID: PMC4515929  PMID: 26215149
Congenital lactase deficiency; CLD; LCT gene; Nephrocalcinosis
2.  Early stage signet ring cell carcinoma of the colon examined by magnifying endoscopy with narrow-band imaging: a case report 
BMC Gastroenterology  2015;15:86.
Signet ring cell carcinoma of the colon and rectum is rare, and most cases are detected at an advanced stage. We present a case of primary signet ring cell carcinoma detected at an early stage by magnifying endoscopy with narrow-band imaging (NBI) and crystal violet staining.
Case presentation
A 73-year-old man visited our hospital for screening colonoscopy. Six years previously, he had undergone endoscopic submucosal dissection (ESD) for early gastric cancer. The pathological diagnosis was a well-differentiated adenocarcinoma, invading into the mucosa without lymphovascular invasion. Colonoscopy revealed a flat elevated lesion with a slightly depressed area, 20 mm in diameter, in the cecum. Further, magnifying endoscopy with NBI revealed that the surface pattern was slightly irregular and microvessels had a regular diameter and distribution in the margin of the lesion, but in the central part of the lesion, irregularity in the tumor surface pattern and form as well as in the diameter and distribution of microvessels was noted. Additionally, due to mucus, avascular areas were also observed. Magnifying endoscopy combined with 0.05 % crystal violet staining showed IIIL and VI pit patterns in the margin of the lesion, and a VI pit pattern in the central part of the lesion; however, due to mucus exudate, this finding could not be established with certainty. The lesion was successfully removed en bloc using ESD without complications. The tumor was composed mainly of signet ring cell carcinoma, partially mixed with moderately differentiated (tub2) and well-differentiated (tub1) adenocarcinomas. The tumor cells infiltrated 250 μm into the submucosal layer and involved lymphatic vessels. Therefore, the patient underwent an additional laparoscopic ileocecal resection, and the resected specimen revealed no residual carcinoma or lymph node metastasis.
In this case report, we present a case of primary signet ring cell carcinoma detected at an early stage and identified by magnifying endoscopy with NBI and crystal violet staining.
PMCID: PMC4512161  PMID: 26205810
Signet ring cell carcinoma; Colon cancer; Narrow band imaging; Pit pattern
3.  Intraductal papillary mucinous carcinoma of the pancreas associated with pancreas divisum: a case report and review of the literature 
BMC Gastroenterology  2015;15:78.
Pancreas divisum, the most common congenital anomaly of the pancreas, is caused by failure of the fusion of the ventral and dorsal pancreatic duct systems during embryological development. Although various pancreatic tumors can occur in patients with pancreas divisum, intraductal papillary mucinous neoplasm is rare.
Case presentation
A 77-year-old woman was referred to our hospital because she was incidentally found to have a cystic tumor in her pancreas at a regular health checkup. Contrast-enhanced abdominal computed tomography images demonstrated a cystic tumor in the head of the pancreas measuring 40 mm in diameter with slightly enhancing mural nodules within the cyst. Endoscopic retrograde pancreatography via the major duodenal papilla revealed a cystic tumor and a slightly dilated main pancreatic duct with an abrupt interruption at the head of the pancreas. The orifice of the major duodenal papilla was remarkably dilated and filled with an abundant extrusion of mucin, and the diagnosis based on pancreatic juice cytology was “highly suspicious for adenocarcinoma”. Magnetic resonance cholangiopancreatography depicted a normal, non-dilated dorsal pancreatic duct throughout the pancreas. The patient underwent a pylorus-preserving pancreaticoduodenectomy under the diagnosis of intraductal papillary mucinous neoplasm with suspicion of malignancy arising in the ventral part of the pancreas divisum. A pancreatography via the major and minor duodenal papillae on the surgical specimen revealed that the ventral and dorsal pancreatic ducts were not connected, and the tumor originated in the ventral duct, i.e., the Wirsung’s duct. Microscopically, the tumor was diagnosed as intraductal papillary mucinous carcinoma with microinvasion. In addition, marked fibrosis with acinar cell depletion was evident in the ventral pancreas, whereas no fibrotic change was noted in the dorsal pancreas.
Invasive ductal carcinomas of the pancreas associated with pancreas divisum usually arise from the dorsal pancreas, in which the occurrence of pancreatic cancer may link to underlying longstanding chronic pancreatitis in the dorsal pancreas; however, the histopathogenesis of intraductal papillary mucinous neoplasm in this anomaly is a critical issue that warrants further investigation in future.
PMCID: PMC4495851  PMID: 26152300
Intraductal papillary mucinous carcinoma; Pancreas; Pancreas divisum; Ventral pancreas
4.  Massive mesenteric panniculitis due to fibromuscular dysplasia of the inferior mesenteric artery: a case report 
BMC Gastroenterology  2015;15:71.
Fibromuscular dysplasia (FMD) is a nonatheromatous, noninflammatory arterial disorder of unknown etiology resulting in vessel stenosis and/or aneurysm formation. The renal and cephalocervical (mainly carotid arteries) arterial beds are classically involved; involvement of visceral arteries is rare. Mesenteric panniculitis (MP) is an inflammatory process of mesenteric fat considered to be of unknown etiology. The majority of cases involve the small bowel mesentery; colorectal MP is rare. To our knowledge, no example of MP due to FMD has been described.
Case presentation
A 52 year old man presented with steadily worsening lower abdominal pain. Investigation revealed ischemic rectosigmoid mucosa associated with a large mesenteric mass of unknown nature. Angiography showed the disease was limited to the distribution of the inferior mesenteric artery. Subsequent symptoms of large bowel obstruction necessitated a left hemicolectomy. Pathologic examination showed bowel wall necrosis and massive panniculitis of the rectosigmoid due to FMD. Subsequent angiographic imaging of other vascular beds was negative.
Several features of this case are noteworthy: FMD limited to the inferior mesenteric artery has not been previously reported, FMD has not previously been implicated as a cause of MP, and the massive extent of panniculitis. An accompanying literature review of cases of visceral FMD, traditionally believed to almost exclusively affect females, highlights a greater than anticipated number of males (33 %), and a gender difference regarding concomitant involvement of cephalocervical and/or renal vascular beds (32 % in males versus 80 % in females). The latter observation may have implications regarding the value of radiologic screening of other vascular beds, particularly in asymptomatic males, in patients presenting with visceral artery FMD.
Electronic supplementary material
The online version of this article (doi:10.1186/s12876-015-0303-5) contains supplementary material, which is available to authorized users.
PMCID: PMC4477478  PMID: 26100669
Mesentery; Panniculitis; Fibromuscular dysplasia; Visceral; Inferior mesenteric artery
5.  A case series in patients with enteropathy and granulomatous diseases 
BMC Gastroenterology  2015;15:62.
Although sarcoidosis and celiac disease are both chronic immunologic disorders involving multiple organ systems, reports about association of diseases in individual patients are sparse. While sarcoidosis is a chronic granulomatous disease presumably reflecting an exaggerated response to an unknown antigen, celiac disease is a T cell-driven disease triggered by ingestion of gluten, a protein composite found in wheat and related grains.
Case presentation
We present three cases with a longstanding history of sarcoidosis that have been additionally diagnosed with celiac-like enteropathy. In two cases, celiac disease was established applying celiac-specific serology and duodenal histology, while one case was revealed as an AIE-75-positive autoimmune enteropathy.
The HLA-DR3/DQ2 haplotype was confirmed in both celiac patients, hence confirming previous data of linkage disequilibrium as a cause for disease association. Remarkably, one celiac patient presented with granulomatous nodulae in the ileum, thus reflecting an intestinal sarcoid manifestation. In contrast the patient with an autoimmune enteropathy, was HLA-DQ9/DQ6-positive, also arguing against CD.
Associations of sarcoidosis and celiac disease are rare but do occur. Determining the HLA status in patients with complex autoimmune associations might help classifying involved disease entities.
PMCID: PMC4493942  PMID: 26001889
Sarcoidosis; Löfgren’s syndrome; Celiac disease; Autoimmune enteropathy; AIE-75; HLA-DR3/DQ2
6.  Testosterone-receptor positive hepatocellular carcinoma in a 29-year old bodybuilder with a history of anabolic androgenic steroid abuse: a case report 
BMC Gastroenterology  2015;15:60.
Continuous use of anabolic androgenic steroid in high-doses is associated with substantial health risks, including hepatocellular adenoma. Malignant transformation from hepatocellular adenoma to hepatocellular carcinoma after anabolic androgenic steroid abuse has been rarely reported. The morphological distinction of adenoma from well-differentiated hepatocellular carcinoma is challenging and requires elaborated imaging techniques and histology.
Case presentation
We report about a 29-year old male professional bodybuilder who presented with mid-epigastric pain at the emergency unit. Ultrasound showed a severe hepatomegaly with multiple lesions. Contrast-enhanced ultrasound revealed a heterogeneous pattern with signs of hepatocellular carcinoma. CT scan of the abdomen confirmed multiple hypervascular lesions and central areas of necrosis without contrast enhancement. Subsequent diagnostics included fine needle aspiration (FNA) of suspicious lesions and mini-laparoscopy to establish the diagnosis of a β-catenin and testosterone-receptor positive hepatocellular carcinoma embedded in multiple adenomas. The patient was subsequently treated by liver transplantation and remains tumor-free 27 month after surgery.
Hepatocellular carcinoma occurring in association with anabolic androgenic steroid abuse should sensitize physicians and especially professional bodybuilders for the harmful use of high doses of steroids.
PMCID: PMC4461943  PMID: 25986067
Anabolic androgenic steroids; Hormonal treatment; Hepatocellular carcinoma; Hepatic adenoma
7.  I-131 remnant ablation after thyroidectomy induced hepatotoxicity in a case of thyroid cancer 
BMC Gastroenterology  2015;15:56.
Radioactive iodine (I-131) is routinely used for the treatment of differentiated thyroid cancer following surgery. Drug-induced liver injury (DILI) is a leading cause of acute liver failure. Here we reported a rare case of diffuse hepatic uptake (DHU) of radioactive iodine (I-131) induced hepatotoxicity in patient with I-131 ablation therapy after thyroidectomy.
Case presentation
A 57-year-old woman was admitted due to jaundice, itching and dark urine with abnormally elevated liver function. She has performed thyroidectomy followed by 100mci radioactive I-131 ablation therapy 21 days ago. The basic hepatic protection could not efficiently prevent disease progression. The patient was further treated with methylprednisolone, the bilirubin and alanin aminotransferase were finally lowered back to normal in the follow-up visit.
To the best of our knowledge, this is the rare description of DILI complications in thyroidectomy patient due to I-131 ablation therapy. The patient responds to glucocorticoid therapy well, but not basic hepatic protection treatment. Even though this is only a single case, it reminds physicians make DILI in early consideration when patient present liver injury after I-131 ablation therapy.
PMCID: PMC4494804  PMID: 25947546
Hepatotoxicity; Drug-induced liver injury; I-131; Thyroid cancer
8.  Inflammatory bowel disease (IBD)-like disease in a case of a 33-year old man with glycogenosis 1b 
BMC Gastroenterology  2015;15:45.
Inflammatory bowel disease (IBD)-like conditions in glycogen storage disease (GSD) type Ib have been predominantly described in children. Signs and symptoms of GSD type Ib are hypoglycemia, pancytopenia and hepatosplenomegaly. Based on few published cases, there is evidence that granulocyte-colony stimulating factor (G-CSF) in patients with glycogenosis–related pancytopenia might ameliorate the IBD-like disease through leukocyte increase.
Case presentation
Here we firstly describe a case of an adult 33-year-old Caucasian male patient with GSD type Ib accompanied with IBD-like disease with persistent pancytopenia despite moderate-dose G-CSF treatment. Recent vomiting and abdominal discomfort were due to a high-grade stenosis in the transverse colon. A dose increase of the G-CSF successfully normalized his leukocyte count. However, the stenosis worsened and surgical therapy was needed.
We suggest that symptomatic patients with GSD type Ib should undergo endoscopic examination in order to detect IBD-like disease and to initiate early treatment.
PMCID: PMC4394407  PMID: 25881301
Crohn’s disease; IBD-like disease; Stenosis; Glycogenosis; Glycogen storage disease; Granulocyte colony stimulating factor; G-CSF
9.  Sofosbuvir and ribavirin before liver re-transplantation for graft failure due to recurrent hepatitis C: a case report 
BMC Gastroenterology  2015;15:38.
Recurrent hepatitis C virus infection after liver transplantation is associated with reduced graft and patient survival. Re-transplantation for graft failure due to recurrent hepatitis C is controversial and not performed in all centers.
Case presentation
We describe a 54-year-old patient with hepatitis C virus genotype 1b infection and a null response to pegylated interferon-α and ribavirin who developed decompensated graft cirrhosis 6 years after a first liver transplantation. Treatment with sofosbuvir and ribavirin allowed for rapid negativation of serum HCV RNA and was well tolerated despite advanced liver and moderate renal dysfunction. Therapeutic drug monitoring did not reveal any clinically significant drug-drug interactions. Despite virological response, the patient remained severely decompensated and re-transplantation was performed after 46 days of undetectable serum HCV RNA. The patient is doing well 12 months after his second liver transplantation and remains free of hepatitis C virus.
The use of directly acting antivirals may allow for successful liver re-transplantation for recipients who remain decompensated despite virological response and is likely to improve the outcome of liver re-transplantation for end-stage recurrent hepatitis C.
PMCID: PMC4378015  PMID: 25887762
Directly acting antiviral; Hepatitis C virus; Liver transplantation; Therapeutic drug monitoring
10.  Ischemic acute pancreatitis with pancreatic pseudocyst in a patient with abdominal aortic aneurysm and generalized atheromatosis – case report 
BMC Gastroenterology  2015;15:35.
Ischemic pancreatitis is a rare medical entity. The pancreatic tissue is susceptible to ischemia with the possibility of developing acute pancreatitis. The abdominal aortic aneurysm can be one possible cause of pancreatic hypoperfusion.
Case presentation
We report the case of a 68-year-old man, Caucasian, with a history of a cluster of severe cardiovascular conditions, who presented epigastric pain of variable intensity for about 2 weeks. The pain occurred after intense physical effort, and was associated with anorexia and asthenia. The palpation revealed epigastric pain and palpable pulsatile mass above the umbilicus. Laboratory tests showed increased serum and urine amylases. The abdominal contrast-enhanced CT scan evidenced acute lesions of the pancreas and a caudal pancreatic pseudocyst of 39x24 mm. An abdominal aortic aneurysm was also described (which extended from the kidney level to the bilateral femoral level) with a maximum diameter of 60.5 mm and generalized atheromatosis. By corroborating clinical, anamnestic, laboratory and imaging data, the case was diagnosed as moderately severe acute ischemic pancreatitis, pancreatic pseudocyst, abdominal aortic aneurysm, generalized atheromatosis. The pancreatic pseudocyst was resorbed in eight months. Surgery for the abdominal aneurysm was performed after the resorption of the pseudocyst. The patient died after aortic surgery because of a septic complication.
Ischemic pancreatitis is a rare condition but should be considered in a patient with upper abdominal pain and elevated amylase in the context of an abdominal aortic aneurysm and generalized atheromatosis.
PMCID: PMC4374579  PMID: 25887669
Ischemic pancreatitis; Pancreatic pseudocyst; Abdominal aortic aneurysm; Atherosclerosis
11.  Hydroxyurea and colonic ulcers: a case report 
BMC Gastroenterology  2014;14:134.
Hydroxyurea at a relatively low dose is frequently prescribed to induce hemoglobin F production in patients with sickle cell and β-thalassemia diseases because of its good efficacy and safety profiles. However, a potentially fatal gastrointestinal ulceration was recently found and herein reported.
Case presentation
A thirty-seven-year-old man with transfusion dependent hemoglobin E/β-thalassemia disease was treated with hydroxyurea to induce hemoglobin F production since 2007 without incident. From 2008 to April 2010, episodes of hematochezia, mucous diarrhea and epigastric pain intermittently manifested. Four colonoscopies done during the period repeatedly showed ulcerative lesions from the terminal ileum to the ascending colon with a non-specific histo-pathologic finding. Subsequently, ulcerative lesions also developed at the pharynx, histo-pathologic findings of which were not different from those in the colon. These ulcerative lesions resolved within a month after discontinuing hydroxyurea in April 2010 and have not recurred since.
The findings suggested role of hydroxyurea in the pathogenesis of these ulcers, and that it must be immediately discontinued to prevent further damage to the digestive mucosa.
PMCID: PMC4127553  PMID: 25082414
Hydroxyurea; Colonic and oral ulcers; Thalassemia
12.  Lymphomatoid granulomatosis associated with azathioprine therapy in Crohn disease 
BMC Gastroenterology  2014;14:127.
Lymphomatoid granulomatosis (LYG) is a rare Epstein-Barr virus-associated lymphoproliferative disorder. It most often occurs in patients with immunodeficiency and the clinical course ranges from indolent behavior to that of an aggressive malignancy. Pulmonary, central nervous system and dermatological manifestations are most common. To our knowledge this is the first reported case of LYG related to azathioprine therapy in Crohn disease.
Case presentation
A twenty-six year old Caucasian woman with colonic Crohn disease on maintenance azathioprine therapy presented with right upper quadrant pain and fever. Diagnostic imaging revealed extensive liver, pulmonary and cerebral lesions. A diagnosis of LYG was made based on the pattern of organ involvement and the immunohistochemical features on liver and lung biopsy.
Thiopurine therapy for inflammatory bowel disease is associated with an increased incidence of lymphoproliferative disorders. This report highlights the diagnostic challenges associated with LYG. As long-term thiopurine therapy remains central to the management of inflammatory bowel diseases it is essential that both patients and clinicians are aware of this potential adverse outcome.
PMCID: PMC4105046  PMID: 25022612
Lymphoproliferative disorders; Crohn disease; Inflammatory bowel disease; Azathioprine; Thiopurines
13.  Gastrinoma and neurofibromatosis type 2: the first case report and review of the literature 
BMC Gastroenterology  2014;14:110.
Gastroenteropancreatic neuroendocrine tumors have occasionally been described in association with neurofibromatosis type 1, whereas an association with neurofibromatosis type 2 has never been reported.
Case presentation
This report refers to an Italian 69 year old woman with neurofibromatosis type 2 and a pancreatic gastrinoma. In the past she had encephalic meningiomas, a tongue schwannoma and bilateral acoustic neurinomas. She presented with weight loss and a long-term history of diarrhea, responsive to proton pump inhibitors. Upper gastrointestinal endoscopy revealed peptic ulcer of the duodenal bulb. Blood tests were normal, except for the elevation of plasma gastrin (1031 pg/ml; reference value <108) and chromogranin A (337 U/L; reference value <36). After secretin stimulation testing, the plasma gastrin level rose to 3789 pg/ml. The abdomen magnetic resonance imaging and gallium68-DOTATOC positron emission tomography scan demonstrated the presence of a 1.2 x 2 cm lesion in the pancreatic head and a liver metastatis. Pancreatic endoscopic ultrasound with fine needle aspiration revealed cytomorphologic features suggestive of pancreatic gastrinoma. Brain magnetic resonance showed a pituitary microadenoma. There was no evidence of hyperparathyroidism. The genetic test for multiple endocrine neoplasia type 1 syndrome mutation was negative.
This report focuses on the first case of coexistence of gastrinoma with neurofibromatosis type 2. Although the clinical relevance of this association remains to be determined, our case report will surely give cause for due consideration.
PMCID: PMC4082280  PMID: 24961548
Gastrinoma; Neurofibromatosis type 2; Multiple endocrine neoplasia syndrome type 1; Neuroendocrine tumors; Zollinger Ellison syndrome
14.  Hepatobiliary cystadenocarcinoma without mesenchymal stroma in a female patient: a case report 
BMC Gastroenterology  2014;14:109.
Hepatobiliary cystadenocarcinoma is a rare epithelial malignant neoplasm of the liver or extrahepatic bile ducts. Early diagnosis of hepatobiliary cystadenocarcinoma is difficult because of its asymptomatic features and rarity. Moreover, the molecular pathogenesis of hepatobiliary cystadenocarcinoma remains unclear. Herein, we described a case of hepatobiliary cystadenocarcinoma in female with chronic hepatitis B and repeated hepatolithiasis.
Case presentation
A 65-year-old woman with medical history of latent hepatitis B virus infection, repeated choledocholisthiasis, and cholecystitis was admitted due to a heterogeneous cystic mass (5.6 cm × 4 cm) shown on abdominal ultrasonography during regular physical checkup. The patient complained about irregular bowel movements with intermittent diarrhea for two months before presentation. Computed tomography (CT) disclosed a multiloculated cystic lesion in the left hepatic lobe with the presence of intraductal stones and dilatation of intrahepatic ducts. Histological results obtained from left lobectomy specimens showed hepatobiliary cystadenocarcinoma without accompanied mesenchymal stroma.
Notably, hepatobiliary cystadenocarcinoma without mesenchymal stroma seldom occurs in women and is usually associated with poor prognosis. We present the rare findings in this patient and suggest that chronic inflammatory insults in the intrahepatic bile ducts might shed light on the cystadenocarcinogenesis.
PMCID: PMC4065581  PMID: 24934314
Hepatobiliary cystadenocarcinoma; Biliary tumors; Hepatolithiasis; Cholestasis
15.  Intestinal obstruction due to dual gastrointestinal atresia in infants: diagnosis and management of 3 cases 
BMC Gastroenterology  2014;14:108.
Several types of congenital lesions can cause complete or incomplete obstruction of the intestine. Our purpose is to present 3 neonates with dual intestinal type I atresia, i.e., simultaneous obstructive lesions at 2 locations in which the atresia manifested as diaphragm-like tissue.
Case presentation
All 3 cases were female infants ranging in age from 2 to 14 months. The common symptom in all cases was intermittent persistent vomiting. In some cases the vomitus was bilious, and other symptoms included abdominal distention and delayed meconium passage. Prior surgeries at another hospital were unsuccessful at relieving the symptoms in one case. One case had dual lesions in the colon, one dual lesions in the duodenum, and one atresia at both the distal portion of the ileum and the descending colon. Surgical exploration and removal of the lesions at our hospital was successful in all cases, and the infants were discharged in good condition.
Type I atresia can manifest as a diaphragm-like tissue obstructing the continuity of gastrointestinal tract, and in rare cases multiple areas may be present. Base on the intermittent nature of the associated symptoms, diagnosis can be difficult and is often delayed. Physicians should be aware of this condition during the work-up of an infant with persistent intermittent vomiting.
PMCID: PMC4064280  PMID: 24928109
Type I Atresia; Gastrointestinal diaphragm; Congenital; Intestinal obstruction; Infant
16.  Coexistence of HBsAg and HBsAb in a difficult-to-treat chronic hepatitis B: loss of HBsAg with entecavir plus tenofovir combination 
BMC Gastroenterology  2014;14:94.
Some reports have documented the coexistence of Hepatitis B surfage Antigen (HBsAg) and anti-HBsAg antibodies (HBsAb) in patients with chronic hepatitis B (CHB), often in the absence of amino acid substitutions in the HBsAg sequences of the Hepatitis B Virus (HBV) genome able to explain an immunological escape variant.
HBV genome has a very compact coding organization, with four partially overlapping open reading frames (ORFs). Because the reverse transcriptase region (rt) of HBV polymerase overlaps the HBsAg ORF, it is possible that some mutations in the HBsAg region correspond to mutations in the rt ORF, conferring resistance to current antiviral therapies.
This unique case explores the response to antiviral therapies of a CHB with concurrent HBsAg and HBsAb positivity, and analyse the clinical implications of possible mutations in rt and HBsAg ORFs.
Case presentation
Here we describe the case of a 59 year-old Italian man suffering from Hepatitis B envelope Antigen (HBeAg) positive CHB with concurrent HBsAb positivity. By ultra-deep pyro-sequencing (UDPS) technique, mutations conferring immunological escape or resistance to antiviral therapies were found neither in HBsAg nor in HBV rt ORFs, respectively.
The patient was unsuccessfully treated with interferon, adefovir monotherapy and adefovir plus entecavir combination. Surprisingly, during entecavir plus tenofovir combination, anti-HBe seroconversion and HBsAg loss were observed, while the titer of HBsAb persisted.
Concurrent HBsAg/HBsAb positivity in active CHB is a clinical and virological dilemma. In this setting, there are not consistent data about the response to conventional therapies and the immunological balance between host and virus remains so far unexplained. This is, to our knowledge, the first case described of a CHB with HBsAg/HBsAb positivity, wild type for clinically relevant mutations in HBsAg and rt ORFs, successfully treated with a combination of nucleot(s)ide analogues (NAs).
PMCID: PMC4031327  PMID: 24885182
HBeAg positive chronic hepatitis B; HBsAg; Anti-HBs; Coexistence; Ultra-deep pyro-sequencing; Immunological escape; Nucleos(t)ide analogues; Combination; Entecavir; Tenofovir
17.  Sigmoid colon cancer arising in a diverticulum of the colon with involvement of the urinary bladder: a case report and review of the literature 
BMC Gastroenterology  2014;14:90.
Colon cancer can arise from the mucosa in a colonic diverticulum. Although colon diverticulum is a common disease, few cases have been previously reported on colon cancer associated with a diverticulum. We report a rare case of sigmoid colon cancer arising in a diverticulum with involvement of the urinary bladder, which presented characteristic radiographic images.
Case presentation
A 73-year-old man was admitted to our hospital for macroscopic hematuria. Computed tomography and magnetic resonance imaging revealed a sigmoid colon tumor that protruded into the urinary bladder lumen. The radiographs showed a tumor with a characteristic dumbbell-shaped appearance. Colonoscopy showed a type 1 cancer and multiple diverticula in the sigmoid colon. A diagnosis of sigmoid colon cancer with involvement of the urinary bladder was made based on the pathological findings of the biopsied specimens. We performed sigmoidectomy and total resection of the urinary bladder with colostomy and urinary tract diversion. Histopathological findings showed the presence of a colovesical fistula due to extramurally growing colon cancer. Around the colon cancer, the normal colon mucosa was depressed sharply with lack of the muscular layer, suggesting that the colon cancer was arising from a colon diverticulum.
The present case is the first report of sigmoid colon cancer arising in a diverticulum with involvement of the urinary bladder. Due to an accurate preoperative radiological diagnosis, we were able to successfully perform a curative resection for sigmoid colon cancer arising in a diverticulum with involvement of the urinary bladder.
PMCID: PMC4030041  PMID: 24884743
Colon cancer; Diverticulum; Urinary bladder invasion
18.  Severe cholestatic jaundice after a single administration of ajmaline; a case report and review of the literature 
BMC Gastroenterology  2014;14:60.
Ajmaline is a pharmaceutical agent now administered globally for a variety of indications, particularly investigation of suspected Brugada syndrome. There have been previous reports suggesting that repetitive use of this agent may cause severe liver injury, but little evidence exists demonstrating the same effect after only a single administration.
Case presentation
A 33-year-old man of Libyan origin with no significant past medical history underwent an ajmaline provocation test for investigation of suspected Brugada syndrome. Three weeks later, he presented with painless cholestatic jaundice which peaked in severity at eleven weeks after the test. Blood tests confirmed no evidence of autoimmune or viral liver disease, whilst imaging confirmed the absence of biliary tract obstruction. A liver biopsy demonstrated centrilobular cholestasis and focal rosetting of hepatocytes, consistent with a cholestatic drug reaction. Over the course of the next few months, he began to improve clinically and biochemically, with complete resolution by one year post-exposure.
Whilst ajmaline-related hepatotoxicity was well-recognised in the era in which the drug was administered as a regular medication, clinicians should be aware that ajmaline may induce severe cholestatic jaundice even after a single dose administration.
PMCID: PMC3977671  PMID: 24694003
Ajmaline; Drug-induced liver injury; Brugada syndrome; Liver; Pathology
19.  Peritoneal metastatic adenocarcinoma possibly due to a gastric duplication cyst: a case report and literature review 
BMC Gastroenterology  2014;14:48.
Gastric duplication cysts are rare congenital abnormalities, and malignant transformation of these duplications is also thought to be rare.
Case presentation
During a routine health checkup, a 28-year-old man underwent abdominal sonography followed by computed tomography (CT) with contrast agent, which revealed a cystic lesion with no enhancement. Laparoscopic surgery showed a 10 × 10 cm cyst adhering to the gastric corpus. However, attempts to remove the lesion en bloc were unsuccessful, and the ruptured cyst had contaminated the peritoneal cavity. Gastric duplication was diagnosed from microscopic examination of the cyst. Seven months later, the patient suffered a progressive increase in ascites, and repeated cytological analysis showed small nests of adenocarcinoma cells, with primary lesion unknown. Diagnostic laparoscopy showed multiple white nodules scattered over the surface of the liver, greater omentum, and peritoneum. Biopsy of the omental nodules confirmed adenocarcinoma, while carcinomatosis was diagnosed in the peritoneum.
Clinical presentation and chronological developments indicated that the malignancy probably originated from the gastric duplication cyst. This case highlights the importance of accurate preoperative diagnosis and optimal surgical management for gastric duplication as well as considering the potential existence of malignant transformation during surgical evaluation of adult patients with gastric duplication cysts.
PMCID: PMC3994556  PMID: 24641252
20.  Orthotopic liver transplantation in situs inversus adult from an ABO-incompatible donor with situs inversus 
BMC Gastroenterology  2014;14:46.
Situs inversus is a rare congenital anomaly characterized by the complete inversion of thoracic and abdominal organs. Liver transplantation in such patients or from donors in situs inversus is technically challenging because of the reversed anatomic structures. A small number of successful liver transplantation cases concerning situs inverus in either recipients or donors have been recently reported with different graft position and orientation. Here we reported an extremely rare case of liver retransplantation from an ABO incompatible situs inversus donor to an adult situs inversus recipient.
Case presentation
A 53-year-old complete situs inversus man developed graft failure due to severe biliary complication after his first liver transplantation from a situs solitus donor. Re-transplantation was performed using a graft liver from a likewise situs inversus donor. Although the blood type between donor and recipient was incompatible, the post-operative outcome was excellent under proper prophylaxis to the antibody-mediated rejection.
To the best of our knowledge, this is the first report of liver transplantation from situs inversus to situs inversus in adult recipient. Liver transplantation using situs matching donor makes the procedure much easier at the surgical point of view, which has a benefit of less potential surgical complications. Furthermore, ABO-incompatibility is acceptable for donor allocation in cases that both donor and recipient are situs inversus.
PMCID: PMC3975226  PMID: 24625305
Liver transplantation; Retransplantation; Situs inversus; Abo incompatible
21.  Two patients with intestinal failure requiring home parenteral nutrition, a NOD2 mutation and tuberculous lymphadenitis 
BMC Gastroenterology  2014;14:43.
Mutations in the NOD2 gene are a significant risk factor to acquire intestinal failure requiring home parenteral nutrition. Tuberculous lymphadenitis is the main manifestation of extrapulmonary tuberculosis. Defects in the innate immunity, including NOD2 mutations, may increase the risk for acquiring infections caused by M. tuberculosis. An association of intestinal failure, mutations in the NOD2 gene and tuberculous lymphadenitis has not been described before.
Case presentation
We report of two patients with intestinal failure secondary to mesenteric ischemia. Both patients presented with fever and weight loss while receiving long term home parenteral nutrition. Both of them were found to have mutations in the NOD2 gene. Catheter related infections were ruled out. FDG-PET-CT scans initially obtained in search for another infectious focus that would explain the symptoms unexpectedly showed high FDG uptake in mediastinal lymph nodes. Direct or indirect evidence proved or was highly suggestive for tuberculous lymphadenitis. Intravenous tuberculostatic therapy was started and led to a reversal of symptoms and to resolution of the lesions by FDG-PET-CT.
Mutations in the NOD2 gene may put patients both at an increased risk for acquiring M. tuberculosis infections as well as at an increased risk of intestinal failure after extensive intestinal resection. Thus we suggest to specifically include reactivated and opportunistic infections in the differential diagnosis of suspected catheter related infection in patients with intestinal failure who carry mutations in their NOD2 gene.
PMCID: PMC3995967  PMID: 24597572
NOD2; Intestinal failure; Tuberculous lymphadenitis; Catheter related blood stream infection
22.  The concurrent association of inflammatory polymyositis and Crohn’s ileo-colitis in a Sri Lankan man: a case report of a rare association and literature review 
BMC Gastroenterology  2014;14:35.
Crohn’s disease is a relapsing, systemic inflammatory disease affecting the gastrointestinal tract with associated extraintestinal manifestations and immune disorders. Among the few cases reported, the association of Crohn’s disease with polymyositis varies in its complexity and severity. We report here the first known case of inflammatory polymyositis leading to rhabdomyolysis in a male patient diagnosed with Crohn’s ileocolitis.
Case presentation
A 42-year-old previously healthy man presented with acute polymyositis leading to rhabdomyolysis. The acute nature of the illness raised the suspicion of an infective, toxic, or metabolic insult, which was excluded during further investigations. Prolonged low-grade fever and raised inflammatory markers led to the suspicion of inflammatory polymyositis, which was confirmed by electromyography and muscle histology. In the absence of an infective cause, the concurrent association of prolonged diarrhea containing blood and mucous after recovery from an acute phase of myositis proved a diagnostic challenge. Ileocolonoscopy findings of extensive aphthous ulceration with skip lesions extending to the terminal ileum, and histology showing polymorph infiltration of the lamina propria, transmural involvement, and micro abscess formation was suggestive of Crohn’s disease. Sensory motor axonal peripheral neuropathy, which is another rare association of inflammatory bowel disease, was also present.
An unrecognized genetic predisposition or altered gut permeability causing disruption of the gut immune barrier triggering an immune response against skeletal muscles may have contributed to this unique association. Both polymyositis and Crohn’s ileocolitis responded well to corticosteroids and azathioprine, which is supportive of their immune pathogenesis. Myositis can be considered to be a rare extraintestinal manifestation of Crohn’s disease and can be used in the differential diagnosis of corticosteroid or hypokalemia-induced myopathy in Crohn’s disease.
PMCID: PMC3938905  PMID: 24552185
Inflammatory polymyositis; Crohn’s disease; Rhabdomyolysis; Ileocolitis
23.  Acute gastric dilatation due to a superior mesenteric artery syndrome: an autopsy case 
BMC Gastroenterology  2014;14:37.
Superior mesenteric artery (SMA) syndrome occurs when the third portion of duodenum becomes tightly compressed between the SMA and the abdominal aorta (AA). Several causes of the SMA syndrome have been postulated such as marked weight loss, external compression of the abdomen, anatomic variation, and surgical alterations of anatomy. This is an autopsy case of a subject with atypical duodenal obstruction related SMA syndrome.
Case presentation
A 71-year-old woman died one and a half days after eating a large meal of roast meat and vegetables and experiencing subsequent nausea and abdominal pain. At autopsy, fatal acute gastric dilatation was confirmed. The posterior parietal peritoneum around the duodenum was scarred and pulled the root of the mesentery involving the SMA. The complex compressed and narrowed the third portion of the duodenum. The root of the mesentery was also thickened and had adhered to the surface of the duodenum, which may have been due to past peritonitis and disturbance of duodenal motility. Aggregation of an excessively large food mass obstructed the lumen of the duodenum. The cause of death was diagnosed as SMA syndrome with intra-duodenal aggregation of an excessively large mass of food in the narrowed duodenal lumen.
This is an atypical fatal case of acute gastric dilatation, through an excessively large mass of food obstruction at the latent narrowed duodenum.
PMCID: PMC3946598  PMID: 24555911
Superior mesenteric artery; Duodenum; Mesentery; Scar; Food mass
24.  Ulcerative jejunitis in a child with celiac disease 
BMC Gastroenterology  2014;14:29.
Celiac disease can present in children and adults with a variety of manifestations including a rare complication known as ulcerative jejunitis. The latter has been associated with refractory celiac disease in adult onset patients. The objective of this case report is to describe the first pediatric case of ulcerative jejunitis in celiac disease, diagnosed by capsule endoscopy, which was not associated with refractory celiac disease.
Case presentation
The 9 year old girl presented with a history of abdominal pain and vomiting. Laboratory investigations revealed a slightly elevated IgA tissue transglutaminase antibody level in the setting of serum IgA deficiency. Initial upper endoscopy with biopsies was not conclusive for celiac disease. Further investigations included positive IgA anti-endomysium antibody, and positive HLA DQ2 typing. Video capsule endoscopy showed delayed appearance of villi until the proximal to mid jejunum and jejunal mucosal ulcerations. Push enteroscopy with biopsies subsequently confirmed the diagnosis of celiac disease and ulcerative jejunitis. Immunohistochemical studies of the intraepithelial lymphocytes and PCR amplification revealed surface expression of CD3 and CD8 and oligoclonal T cell populations. A repeat capsule study and upper endoscopy, 1 year and 4 years following a strict gluten free diet showed endoscopic and histological normalization of the small bowel.
Ulcerative jejunitis in association with celiac disease has never previously been described in children. Capsule endoscopy was essential to both the diagnosis of celiac disease and its associated ulcerative jejunitis. The repeat capsule endoscopy findings, one year following institution of a gluten free diet, also suggest that ulcerative jejunitis is not always associated with refractory celiac disease and does not necessarily dictate a poor outcome.
PMCID: PMC4016221  PMID: 24524552
Ulcerative jejunitis; Celiac disease; Pediatric; Capsule endoscopy
25.  Multiple aseptic splenic abscesses in a 15 year old patient 
BMC Gastroenterology  2014;14:20.
Splenic abscesses in children are rare. In recent years aseptic abscesses have been recognized as a new disease entity, especially in adults.
Case presentation
We present a rare case of a 15 year old girl with aseptic abscesses, in whom antibiotic therapy comprising metronidazole and meropenem was partly beneficial in improving the patient’s clinical condition and inflammatory parameters. Eventually corticosteroid therapy led to complete and long lasting resolution of symptoms. Further diagnostic work-up revealed autoimmune thyroiditis, but no signs of inflammatory bowel disease.
Aseptic splenic abscesses should always prompt clinicians to initiate further diagnostics to determine a potential underlying condition and a regular follow-up. Anaerobic bacteria may play a role in the pathogenesis of the disease and besides corticosteroid treatment antibiotics covering anaerobes may be beneficial.
PMCID: PMC3922344  PMID: 24502393
Abscess; Aseptic; Anaerobic bacteria; Metronidazole; Inflammatory bowel disease

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