Familial adenomatous polyposis (FAP) and Crohn's disease (CD) are two entities with no known etiologic or physiopathogenic relation. The rarity of the former makes the coincidence of both diagnoses in one patient very unlikely. Nevertheless, management in such cases can be puzzling as surgical options must be considered, and immunosuppression/immunomodulation is set in a territory of accelerated carcinogenesis. We report the case of a 29-year-old male with a diagnosis of FAP since adolescence, already submitted to prophylactic proctocolectomy, presenting with anemia and bloody diarrhea, revealing small bowel CD. This case allows for a rich discussion of the clinical dilemmas presenting when FAP and CD are diagnosed in the same patient and for a deep analysis of the concerns inherent to the available therapeutic options.
Familial adenomatous polyposis; Crohn's disease; Capsule endoscopy
We report a unique case of giant obstructing inflammatory polyposis associated with ulcerative colitis (UC). A 25-year-old Japanese man with an UC history of 2 years and 6 months was referred to our institution because of diarrhea and melena. His computed tomography scan showed marked dilation of the transverse and descending colon; therefore, we performed total colectomy. Macroscopic evaluation of the excised specimen indicated constricting lesions with giant polyposis in the transverse and descending colon. The polyposis consisted of narrow worm- or noodle-like polyps that bridged over the irregular ulcers. Histologic evaluation of the excised specimen indicated transmural inflammation with a thickened proper muscular layer overlaid with inflammatory polyposis. Based on these data, a diagnosis of giant inflammatory polyposis should be considered in patients who have had UC. Although giant inflammatory polyposis is considered benign, surgical treatment may be indicated to avoid serious complications.
Giant inflammatory polyposis; Filiform polyposis; Ulcerative colitis; Inflammatory bowel disease
A Phrygian cap is a congenital anomaly of the gallbladder with an incidence of 4%. It can simulate a mass in the liver during hepatobiliary imaging and is sometimes mistaken for pathology. A Phrygian cap, however, has no pathological significance and normally causes no symptoms. A case will be presented where a Phrygian cap was found by coincidence during surgery. The patient was operated for colon cancer with liver metastasis in segment V. He underwent a simultaneous right hemicolectomy and wedge resection of the liver lesion. During perioperative inspection, a gallbladder with a folded fundus was seen. This deformity was, in retrospective, detected on the preoperative MRI scan. The patient underwent cholecystectomy to make the wedge resection easier to perform. Otherwise, cholecystectomy for a Phrygian cap is only indicated in case of symptoms. Radiographic imaging can be helpful in narrowing the differential diagnosis. To our knowledge, there is no recent literature about the Phrygian cap and its imaging aspects. Nowadays, multiphase MRI, or multiphase CT in case of MRI contraindication, are the first choices of hepatobiliary imaging.
Gallbladder abnormalities; Congenital anomaly; Gallbladder imaging; Cholecystectomy
Pancreatic fistula is a known complication of distal pancreatectomy. Endotherapy with pancreatic duct stent placement and pancreatic sphincterotomy has been shown to be effective in its management; however, experience of endotherapy in the management of this complication has not been extensively reported from the United States. Preoperative endoscopic retrograde cholangiopancreatography (ERCP) with pancreatic stent placement has also been proposed to prevent this complication after distal pancreatectomy. In our cohort of 59 patients who underwent distal pancreatectomy, 13 (22%) developed a pancreatic fistula in the immediate postoperative period, of whom 8 (14%) patients (5 female, mean age 52 years) were referred for an ERCP because of ongoing symptoms related to the pancreatic fistula. The pancreatic fistula resolved in all patients after a median duration of 62 days from the index ERCP. The median number of ERCPs required to document resolution of the pancreatic fistula was 2. Although a sizeable percentage of patients develop a pancreatic fistula after distal pancreatectomy, only a small percentage of patients require ERCP for management of this complication. Given the high success rate of endotherapy in resolving pancreatic fistula and the fact that the majority of patients who undergo distal pancreatectomy never require an ERCP, performing ERCP for prophylactic pancreatic duct stent prior to distal pancreatectomy might not be necessary.
Distal pancreatectomy; Pancreatic fistula; Pancreatic leak; Pancreatic duct stenting
Pylephlebitis with associated liver abscesses is a rare complication of Crohn's disease that usually presents in the setting of active disease and recent escalation of the immunosuppressive regimen. Here we describe a 17-year-old female patient with active Crohn's disease who presented with a clinical picture and hepatic radiographic findings concerning for pylephlebitis and associated liver abscesses but subsequently confirmed to be an atypical form of focal fatty liver infiltration. We describe the diagnostic difficulty this unique distribution of hepatic fatty infiltration can present and highlight the importance of the different imaging studies to differentiate between atypical focal fatty infiltration and pylephlebitis.
Inflammatory bowel disease; Pylephlebitis; Liver abscess; Focal fatty liver disease
A 21-year-old man with a history of sudden rectal hemorrhage was referred to our hospital. Examination disclosed thrombocytopenia and hepatosplenomegaly. A liver biopsy specimen demonstrated Gaucher cells in Glisson's capsule. Additional investigations revealed a low level of leukocyte β-glucosidase activity and common mutations of the glucocerebrosidase gene, L444P/D409H. We diagnosed the patient with Gaucher disease type 1. He underwent enzyme replacement therapy. Thrombocytopenia and hepatosplenomegaly improved at a rate of approximately 50 and 20%, respectively, within 6 months. This case suggests that we must pay attention to adult Gaucher disease as a differential diagnosis for cryptogenic thrombocytopenia.
Gaucher disease type 1; Rectal hemorrhage; Thrombocytopenia; L444P/D409H
A 39-year-old man was referred to our hospital for the investigation of abdominal fluid collection. He was pointed out to have alcoholic chronic pancreatitis. Laboratory data showed inflammation and slightly elevated serum direct bilirubin and amylase. An abdominal computed tomography demonstrated huge fluid collection, multiple pancreatic pseudocysts and pancreatic calcification. The fluid showed a high level of amylase at 4,490 IU/l. Under the diagnosis of pancreatic ascites, endoscopic pancreatic stent insertion was attempted but was unsuccessful, so surgical treatment (Frey procedure and cystojejunostomy) was performed. During the operation, a huge amount of fluid containing bile acid (amylase at 1,474 IU/l and bilirubin at 13.5 mg/dl) was found to exist in the extraperitoneal space (over the peritoneum), but no ascites was found. His postoperative course was uneventful and he shows no recurrence of the fluid. Pancreatic ascites is thought to result from the disruption of the main pancreatic duct, the rupture of a pancreatic pseudocyst, or possibly leakage from an unknown site. In our extremely rare case, the pancreatic pseudocyst penetrated into the hepatoduodenal ligament with communication to the common bile duct, and the fluid flowed into the round ligament of the liver and next into the extraperitoneal space.
Chronic pancreatitis; Pancreatic ascites; Pseudocyst
A 44-year-old man presenting to our hospital emergency room with abdominal pain was hospitalized for hyperlipidemic acute pancreatitis. A pig-tail catheter was placed percutaneously to drain an abscess on day 22. Although the abscess improved gradually and good clinical progress was seen, pancreatic duct disruption was strongly suspected and endoscopic retrograde cholangiopancreatography was performed on day 90. An endoscopic nasopancreatic drainage tube was placed, but even with concurrent use of a somatostatin analogue, treatment was ineffective. Surgical treatment was elected, but was subsequently postponed as the abscess culture was positive for extended-spectrum β-lactamase-producing Escherichia coli and methicillin-resistant Staphylococcus aureus. Drainage tubography showed a small fistula of the colon at the splenic flexure on day 140. Colonoscopy was performed on day 148. After indigo carmine had been injected, a fistula into the splenic flexure of the colon showed blue staining. The over-the-scope clip (OTSC) system was used to seal the fistula and complete closure was shown. A liquid diet was started on day 159 and was smoothly upgraded to a full diet. Following removal of the pancreatic stent on day 180, drainage volume immediately decreased and the percutaneous drain was removed. On day 189, computed tomography showed no exacerbation of the abscess and the patient was discharged on day 194. This case of colonic fistula caused by severe acute pancreatitis was successfully treated using the OTSC system, avoiding the need for an open procedure.
Colonic fistula; Endoscopic treatment; Pancreatic duct disruption; Severe acute pancreatitis
The number of patients undergoing laparoscopic hepatectomy has rapidly increased in recent years, and indications for this procedure are gradually expanding. Pure laparoscopic hepatectomy is reportedly useful in cases with severe liver cirrhosis. A 55-year-old woman under observation for liver cirrhosis was found to have hepatocellular carcinoma in liver segment III and was referred to our hospital for surgery. The tumor was located in the edge of liver segment III, where percutaneous ablation therapy was unsuitable. Since her hepatic functional reserve was poor, pure laparoscopic partial hepatectomy was performed. The postoperative course was favorable, with no ascites retention, edema or weight gain. The greatest advantage of pure laparoscopic hepatectomy for hepatocellular carcinoma with concomitant liver cirrhosis is that postoperative ascites retention is minimal, meaning that there is little risk of water-electrolyte imbalance associated with ascites retention or hypoproteinemia. This is believed to be because the abdominal incision is small and mobilization of the liver is minimized, reducing the destruction of the routes of collateral lymph flow and blood flow generated in patients with liver cirrhosis. Pure laparoscopic hepatectomy may be a treatment choice for patients with hepatocellular carcinoma and concomitant severe liver cirrhosis.
Pure laparoscopic hepatectomy; Hepatocellular carcinoma; Severely cirrhotic patient
End-stage liver and kidney disease (ELKD) is an indication for deceased donor simultaneous liver-kidney transplantation. Although a few cases of living donor liver-kidney transplantation have been reported, the invasiveness remains to be discussed. Living donor liver transplantation (LDLT) is an alternative choice for ELKD, but has never been reported. Here, we report a case of successful LDLT for a patient with ELKD on hemodialysis. The patient was a 63-year-old male and had decompensated hepatitis C cirrhosis with seronegativity for hepatitis C virus. He had non-diabetic end-stage renal failure and had been on hemodialysis for 3 years. He was in good general condition except for hepatic and renal failure. The living donor was his 58-year-old healthy wife. A right lobe graft was transplanted to the recipient under continuous hemodiafiltration (CHDF) and extracorporeal veno-venous bypass. CHDF was continued until postoperative day 4, at which point CHDF was converted to hemodialysis. His posttransplant course was good and he was discharged on postoperative day 36. To the best of our knowledge, this is the first report of LDLT for a patient on chronic hemodialysis. Therefore, being on hemodialysis is not a contraindication for LDLT. LDLT is feasible for a patient with ELKD on hemodialysis.
Living donor liver transplantation; Hepatitis C; Hemodialysis
Brunner's gland hamartoma is a rare benign small bowel neoplasm and most lesions are small and asymptomatic. However, large hamartoma-related obstructive symptoms and hemorrhage related to tumor ulceration manifest as hematemesis or melena. The exact pathogenesis if these lesions is not well known, but they are thought to be frequently associated with Helicobacter pylori infections and chronic pancreatitis. We report the case of a 45-year-old man who presented with melena due to a large pedunculated Brunner's gland hamartoma arising from the pylorus. It was successfully removed by endoscopic mucosal resection with piecemeal technique because of too large tumor size for application of a conventional snare.
Brunner's gland hamartoma; Hematemesis; Melena; Endoscopic mucosal resection
Eosinophilic gastroenteritis is a rare disease of the gastrointestinal tract characterized by crampy abdominal pain, nausea, vomiting, diarrhea, gastrointestinal bleeding, and weight loss associated with peripheral eosinophilia leading to eosinophilic infiltrates in stomach and intestine, usually in a patient with a prior history of atopy. In this article, we describe our encounter with a 59-year-old female presenting with severe abdominal pain, nausea, vomiting, and weight loss with an extensive evaluation including an upper endoscopy with biopsies resulting in a diagnosis of eosinophilic gastroenteritis. The patient was eventually treated with oral prednisone for three weeks with complete resolution of her symptoms.
Eosinophilic gastroenteritis; Desensitization; Samter's triad; Infiltration; Erythematous; Mucosal
Pancreatic cancer is well known to be an aggressive and highly malignant condition with varied ways of presentation. Pancreatic cystic neoplasms are very uncommon causes of pancreatic malignancy and can often be ignored or missed, especially in the early stages. We present the case of a 49-year-old Caucasian male with no past medical history presenting to an outside facility with sudden epigastric pain that was eventually diagnosed as acute pancreatitis. On transfer to our facility, he was eventually found to have metastatic malignant mucinous cystic pancreatic neoplasm. Barely 12 weeks after his initial presentation and following an aggressive hospital course, he passed away.
Pancreatic cancer; Acute pancreatitis; Pancreatic cystic neoplasms
Neuromyelitis optica, also known as Devic's disease, is a rare autoimmune disorder in which a patient's immune system affects the optic nerves and the spinal cord, leading to loss of vision and spinal cord dysfunction. We present our experience with a 38-year-old female who presented to our facility with complaints of intractable nausea and vomiting. After extensive evaluation, she was found to have neuromyelitis optica. Her symptoms completely resolved following institution of appropriate therapy. She made a significant recovery and has since been placed on chronic immunosuppressive therapy. Through this article we hope to bring attention to a significant cause of intractable nausea and vomiting that may often be forgotten in general medicine or gastroenterology services.
Neuromyelitis optica; Intractable nausea and vomiting; NMO-IgG
Liver abscess caused by hematogenous transmission from a gastrointestinal perforation by a foreign body is a rare but life-threatening condition. We present the case of a 57-year-old male with a pyogenic liver abscess generated on the basis of a foreign body perforation of the rectum. This has not been reported previously. During the examination of the patient, computed tomography scan showed not only the liver abscess but also an inflammatory presacral process, which communicated with the rectum through a 6.5-cm-long foreign body. Subsequent sigmoidoscopy showed a toothpick placed transmurally in the rectum; the toothpick was removed endoscopically. We discuss the importance of computed tomography scans and colonoscopies in relation to liver abscesses of unknown etiology, including the importance of detecting possible perforation caused by possible foreign bodies, polyps or cancer.
Pyogenic liver abscess; Hematogenous transmission; Foreign body; Gastrointestinal perforation; Rectum perforation
Primary malignant melanoma of the esophagus (PMME) comprises only 0.1–0.2% of all malignant esophageal tumors. PMME tumors are highly aggressive and metastasize early via hematogenic and lymphatic pathways. Treatment outcome is poor because the cancer has often advanced at the time of diagnosis. Inoperability, unsuccessful treatment with radiotherapy and chemotherapy in advanced tumors and metastases have contributed to its poor prognosis. Here, we present the endoscopic features, endoscopic ultrasonography findings and management of a PMME case.
Endoscopic features; Endoscopic ultrasonography; Esophagus; Malignant melanoma; Treatment
The patient was a 68-year-old man who was admitted to our hospital with a liver tumor. Abdominal ultrasonography and computed tomography revealed a liver tumor 30 mm in diameter. On colonoscopy, a pedunculated tumor with a central depression (20 mm in diameter) was observed in the ascending colon, and this tumor was considered to be invading deeply into the submucosal layer. Right hemicolectomy with D3 lymphadenectomy and partial hepatectomy were performed simultaneously. On histopathological examination of the resected specimen, the tumor was a well-differentiated tubular adenocarcinoma with 3,000 μm invasion of the submucosal layer. The liver tumor showed histological findings similar to those of the primary colorectal carcinoma. The pathological stage according to the 7th edition of the TNM classification was stage IV (T1N0M1). Nine months after the operation, computed tomography revealed hepatic hilar lymph node metastases and a great deal of ascites. The patient ultimately died 14 months after the operation.
T1 colorectal cancer; Lymph node metastasis; Synchronous liver metastasis; Distant metastasis; Risk factor
Gastric pneumatosis is a radiographic finding that represents a spectrum of conditions ranging from benign disease to abdominal sepsis and death. Along with portal venous gas, it is generally considered an ominous sign prompting emergent operative intervention. We report a rare case showing that diagnostic laparoscopy can be used to confirm or refute full thickness ischemic necrosis and that conservative management can be considered in some patients, recognizing the possibility of a benign process.
Gastric pneumatosis; Diagnostic laparoscopy; Colorectal cancer; Computed tomography
The occurrence of primary melanoma of the small intestine is rare. We describe the case of a 25-year-old man found to have a primary melanoma of the ileum. The patient presented with gradual onset of abdominal pain, fever, diarrhea, weight loss and fatigue. A preoperative diagnosis of a small intestinal tumor was based on the findings of computed tomography scanning. This diagnosis was confirmed at laparoto-my and a partial small bowel resection was performed. Histopathological examination of the resected specimen clarified the exact nature of the lesion, confirming the diagnosis of melanoma. Thorough postoperative investigation did not reveal a primary lesion in the skin, gastrointestinal tract, oculus or brain. Thus, we diagnosed this tumor as a primary lesion. One year after his operation, the patient remains well without any evidence of recurrence. Thus, we diagnosed this small bowel tumor as a primary melanoma of the small intestine.
Melanoma of the intestines; Malignant melanoma; Intestinal melanoma
A 70-year-old man was referred to our hospital for high-grade fever with chills. He has visited our hospital for alcoholic liver cirrhosis and diabetes mellitus for over 20 years. Nine months earlier, he had received a peritoneal venous shunt (Denver shunt®) because of refractory ascites. Laboratory examinations revealed elevated C-reactive protein and liver dysfunction. Ultrasonography and abdominal enhanced computed tomography showed multiple small abscesses in the right lobe of the liver. Blood culture test did not detect the pathogenic bacteria of liver abscesses. The patient was treated with antibiotics for more than 2 months and cured from the infection, but 3 months later, he developed high-grade fever again. He had a recurrence of multiple small liver abscesses involving both lobes of the liver. He was treated with antibiotics, and the abscesses disappeared within a month. After the antibiotic treatment, he had selective intestinal decontamination with kanamycin. He has had no recurrence of liver abscess for over a year. To our knowledge, this is the first report of liver abscess in a cirrhotic patient with Denver shunt. Clinicians should bear liver abscess in mind when treating patients with high-grade fever and liver dysfunction following Denver shunt implantation.
Peritoneal venous shunt; Denver shunt; Liver abscess; Liver cirrhosis; Selective intestinal decontamination
It seems appropriate to use propylthiouracil to treat maternal hyperthyroidism during the first trimester of pregnancy. We present the case of a 26-year-old woman with acute liver failure associated with propylthiouracil during the first trimester of pregnancy. She was successfully treated without liver transplantation. Attention should be paid to the possible occurrence of propylthiouracil-induced hepatotoxicity even during the first trimester of pregnancy.
Acute liver failure; First trimester; Immune tolerance; Pregnancy; Propylthiouracil
A 43-year-old man was referred by his general practitioner to the hepatology clinic with deranged serum aminotransferases, discovered as part of routine blood tests. The objective was to identify the cause of elevated serum aminotransferases in this patient in a systematic manner. Thorough history and physical examination revealed a background history of rippling muscle disease secondary to caveolin-3 protein deficiency, with typical clinical signs. There was a positive family history of musculoskeletal disease in the patient's father and brother. Previous diagnostic tests performed to investigate the patient's musculoskeletal symptoms, including muscle biopsies, were revisited. Subsequent systematic investigations such as blood tests, liver ultrasound scan and Fibroscan® were performed to exclude potential causes of the deranged serum aminotransferases. Liver biopsy was not performed. A consistent pattern of chronic low-grade elevations of serum aminotransferases, less than three times the upper limit of the normal range, was found. This was associated with a consistently elevated serum creatine kinase and normal renal function tests. Previous muscle biopsies had revealed chronic degenerative and regenerative changes suggestive of a focal necrotizing myopathy. Liver ultrasound scan and Fibroscan® were normal. With exclusion of other liver diseases and identification of profoundly elevated serum creatine kinase concentration, the deranged aminotransferases were attributed to rippling muscle disease.
Aminotransferase; Caveolin-3; Clinical decision making; Rippling muscle disease; Liver tests
Among duodenal tumors, lymphangioma is relatively infrequent. In this case report, we describe the case of a 65-year-old Japanese man with duodenal lymphangioma diagnosed by esophagogastroduodenoscopy. Endoscopically, the tumor appeared as a soft submucosal tumor with white spots. When the white spots were grasped by biopsy forceps, milky liquid exuded from the tumor. Additionally, observation by a magnifying endoscope with narrow-band imaging revealed elongated microvessels on the surface. We speculated that this feature was formed because the duodenal villi were dilated and the microvessels were stretched due to the retention of chyle. These endoscopic findings are key features in the diagnosis of duodenal lymphangioma.
Lymphangioma; Duodenal neoplasms; Magnifying endoscope
A case of mucinous adenocarcinoma arising on a long-standing anorectal fistula is described. A 60-year-old man with a long history of mucinous discharge, pain and perianal induration underwent a biopsy of the external opening of the fistula that showed a mucinous infiltrating adenocarcinoma. Due to the large size of the tumor and the fact that it had extended into the surrounding tissue, preoperative radiotherapy was performed. Radiotherapy was given with 40 Gy in 25 fractions for 5 weeks through posterior and bilateral portals. After radiotherapy the tumor was markedly shrunk and the serum level of carcinoembryonic antigen was also improved. Abdominoperineal resection was performed 8 weeks after the termination of radiotherapy. Histological examination of the resected specimen revealed that the invasion of the tumor remained within the sphincter muscle and that no cancer cells were present on the surgical margin. The histological effect of radiotherapy was judged as grade 1b. This treatment can result in downstaging and R0 resection, which also has a possibility to prevent local recurrence. This case suggests that preoperative radiotherapy may play an important role in the definitive treatment of locally advanced perianal mucinous adenocarcinoma.
Perianal mucinous adenocarcinoma; Anorectal fistula; Preoperative radiotherapy
Inflammatory myofibroblastic tumor (IMT), which usually affects young adults and children, is a solid neoplastic mesenchymal proliferation composed of myofibroblastic spindle cells admixed with inflammatory infiltrates. Numerous extrapulmonary sites of these tumors have been found, but intestinal IMT is rare, especially in elderly patient. Its diagnosis is recognized as difficult because the patients usually do not have a specific symptom. Here, we present the case of a 79-year-old man with an IMT that caused small intestinal intussusception, which was diagnosed by abdominal ultrasonography. We review the literature on IMT and specially focus on the diagnostic modalities for this disease.
Adult intussusception; Inflammatory myofibroblastic tumor; Ultrasonography