Adult ; Diagnosis, Differential ; Female ; Humans ; Pancreas ; abnormalities ; Steatorrhea ; etiology

Chylomicron retention disease, also known as Anderson's disease, is a rare hereditary hypocholesterolemic disorder, recessive inherited, characterized by nonspecific symptoms as abdominal distension, steatorrhea, and vomiting associated with failure to thrive. We describe a patient with failure to thrive, chronic diarrhea and steatorrhea who the diagnosis of chylomicron retention disease was established after several months of disease progression. The genetic study confirmed a homozygosity mutation in SAR1B gene, identifying a mutation never previous described [c.83_84delTG(p.Leu28Argfs*7)]. With this case report the authors aim to highlight for this very rare cause of failure to thrive and for the importance of an attempting diagnosis, in order to start adequate management with low fat diet supplemented with fat-soluble vitamins, reverting the state of malnutrition and avoiding possible irreversible and desvantating complications.
Diagnosis ; Diarrhea ; Diet ; Disease Progression ; Failure to Thrive ; Humans ; Malnutrition ; Rare Diseases* ; Steatorrhea ; Vitamins ; Vomiting

BACKGROUND: Since the introduction of the Whipple procedure, it has been the standard treatment method for periampullary carcinomas. However, since the pancreatoduodenectomy has high operative morbidity and mortality, numerous modifications of the pancreatoduodenectomy have been developed to reduce the operative risk. Among the modifications of the pancreatoduodenectomy, the pancreatogastros tomy was developed to reduce pancreatic leakage, which is the most serious complication after a pancreatoduodenectomy. Many favorable data about the pancreatogastrostomy have been published recently. However, some surgeons are reluctant to do a pancreatogastrostomy for fear of early remnant pancreatic insufficiency due to reflux of gastric juice. For that reason, we compare the functional aspects of a pancreatoduodenectomy between a pancreatojejunostomy (P-J) and a pancreatogastrostomy (P-G). METHODS: We studied 35 patients who underwent a pylorus-preserving pancreatoduodenectomy (PPPD) with a diagnosis of a periampullary carcinoma (n=34) or pancreatitis (n=1) at Seoul National University Hospital between 1994 and 1997 and who lived without recurrence for over 1 year. The mean age was 57 year, and the sex ratio was 20:15. Among them, 20 patients received a pancreatojejunostomy; the others received a pancreatogastrostomy. To compare the two groups, we analyzed (1) general nutritional status, (2) gastrointestinal (GI) symptoms and pancreatic exocrine function by measuring fecal elastase, and (3) pancreatic endocrine function by using the oral glucose tolerance test (GTT). RESULTS: After a PPPD, the body weight was decreased in both groups compared to that of the preoperative healthy state, but there was no difference between two groups. Also, no statistical difference could be found in triceps skin-fold thickness and serum protein and albumin and postoperative gastrointestinal symptoms except steatorrhea. There were 4 mild and 15 severe pancreatic exocrine insufficiencies in P-J patients, but all P-G patients showed severe pancreatic insufficiency on the stool elastase test. Excluding preoperative diabetes patients, 44% (7/16) of the P-J patients had an abnormal GTT after the operation, but 75% (9/12) of the P-G patients had an abnormal GTT (p=0.114). CONCLUSION: Exocrine and endocrine pancreatic insufficiencies developed after a PPPD, but did not induce the general malnutrition. A P-G had more deterioration of the pancreatic function than a P-J did. Thus, we must consider the general nutritional status, as well as the risk of pancreatic leakage, in the determination of pancreatoenteric anastomosis.
Body Weight ; Diagnosis ; Exocrine Pancreatic Insufficiency ; Gastric Juice ; Glucose Tolerance Test ; Humans ; Malnutrition ; Mortality ; Nutritional Status ; Pancreatic Elastase ; Pancreaticoduodenectomy* ; Pancreaticojejunostomy ; Pancreatitis ; Pylorus* ; Recurrence ; Seoul ; Sex Ratio ; Steatorrhea

Renal cell carcinoma (RCC) is the second most common urological malignancy and it has diverse range of clinical manifestation. One third of the patients show the metastasis at the time of the diagnosis. The common sites of metastasis are the lung, bone, lymph nodes and metastasis to the pancreas is rare. In case of pancreatic metastasis, more than half of the patients are asymptomatic. Patients with symptoms visit hospital complaining of abdominal pain, weight loss, steatorrhea and rarely biliary obstruction. Although about 40% of all patients visit hospital with hemorrhage, cholangitis caused by spontaneous pancreatic hemorrhage is rare. We report an interesting case of 61-year-old woman with cholangitis caused by bleeding due to pancreatic metastasis from renal cell carcinoma.
Abdominal Pain ; Carcinoma, Renal Cell* ; Cholangitis* ; Diagnosis ; Female ; Hemorrhage* ; Humans ; Lung ; Lymph Nodes ; Middle Aged ; Neoplasm Metastasis ; Pancreas* ; Steatorrhea ; Weight Loss

Cystic fibrosis (CF) is an autosomal recessive disease that is very rare in Asians: only a few cases have been reported in Korea. We treated a female infant with CF who had steatorrhea and failure to thrive. Her sweat chloride concentration was 102.0 mM/L. Genetic analysis identified two novel mutations including a splice site mutation (c.1766+2T>C) and a frameshift mutation (c.3908dupA; Asn1303LysfsX6). Pancreatic enzyme replacement and fat-soluble vitamin supplementation enabled the patient to get a catch-up growth. This is the first report of a Korean patient with CF demonstrating pancreatic insufficiency. CF should therefore be considered in the differential diagnosis of infants with steatorrhea and failure to thrive.
Alternative Splicing ; Base Sequence ; Cystic Fibrosis/complications/diagnosis/*genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/*genetics ; Diagnosis, Differential ; Exocrine Pancreatic Insufficiency/complications/diagnosis/*genetics ; Female ; Frameshift Mutation ; Humans ; Infant ; Republic of Korea ; Steatorrhea/diagnosis

Somatostatinoma is a rare form of neuroendocrine tumor that was first described in 1977. Most tumors have involved the pancreas, and gastrointestinal tract involvement is rare. Somatostatinomas of the ampulla of Vater are extremely rare and present distinct clinical and pathologic differences. Pancreatic somatostatinoma has been associated with a clinical syndrome of dyspepsia, mild diabetes, cholelithiasis, steatorrhea, and hypochlorhydria, but duodenal somatostatinoma, in general, has been clinically silent. A further contrast is that duodenal carcinoid tumors, mainly gastrinoma, tended to be benign, whereas ampullary carcinoid tumors, mainly somatostatinoma, exhibited malignant behavior. Therefore, definite diagnosis is important for treatment and prognosis, and is performed by image study, immunohistochemistry and electron microscopic examination. We report a case of somatostatinoma of the ampulla of Vater in a 51-year-old male. He complained of generalized abdominal pain for a few days. Gastrofiberscopically, a 1.2 cm sized bulging mass was observed on the ampulla of Vater. Radiologically, on abdomen CT, a protruding enhancing mass was revealed in the duodenum. In octreoscan, there was an abnormal focus off increased radiouptake in the infrahepatic area. He underwent a pancreatoduodenectomy. Grossly, the mass was an intraluminary protruding polypoid submucosal mass with focal ulceration in the ampulla of Vater. Histologically, it showed well-differentiated nonpleomorphic tubular cell nest and psammoma bodies. Immunohistochemically, the tumor cells showed a neuroendocrine nature with synaptophysin immunostain and intense staining only for somatostatin.
Abdomen ; Abdominal Pain ; Achlorhydria ; Ampulla of Vater* ; Carcinoid Tumor ; Cholelithiasis ; Diagnosis ; Duodenum ; Dyspepsia ; Gastrinoma ; Gastrointestinal Tract ; Humans ; Immunohistochemistry ; Male ; Middle Aged ; Neuroendocrine Tumors ; Pancreas ; Pancreaticoduodenectomy ; Prognosis ; Somatostatin ; Somatostatinoma* ; Steatorrhea ; Synaptophysin ; Ulcer

Pancreatic inflammatory disease may be classified as acute pancreatitis(AP) and chronic pancreatitis(CP) by primarily clinical criteria, with the obvious difference between them being restoration of normal function in the former and permanent residual damage in the latter. Gallstones and alcohol are the most common causes of acute pancreatitis. Abdominal pain is the major symptom. The diagnosis of AP is usually established by the presence of an increased serum amylase and lipase. CT scanning is the imaging method of choice in determining the severity and complications of AP. There are no generally recognized specific treatments for AP. Supportive therapy, which includes vigorous intravenous hydration, ample analgesia, and vascular, respiratory, and renal support as needed, remains the mainstay of therapy. CP may present as episodes of acute inflammation superimposed on a previously injured pancreas or as chronic fibrotic damage with persistent pain or malabsorption. Alcoholism is the most common cause of CP. The classic triad of pancreatic calcification, steatorrhea, and diabetes mellitus usually establishes the diagnosis of CP. ERCP and pancreatic function test are gold standard imaging procedures for diagnosing CP and planning treatment. Therapy for patients with CP is directed toward major problems such as pain, malabsorption, and diabetes mellitus. Pancreatic enzyme replacement therapy improves the abdominal pain and malabsorption. If Complications is found, endoscopic or Surgical treatments should be considered.
Abdominal Pain ; Alcoholism ; Amylases ; Analgesia ; Cholangiopancreatography, Endoscopic Retrograde ; Diabetes Mellitus ; Diagnosis ; Enzyme Replacement Therapy ; Gallstones ; Humans ; Inflammation ; Lipase ; Pancreas ; Pancreatic Function Tests ; Pancreatitis* ; Pancreatitis, Chronic ; Steatorrhea ; Tomography, X-Ray Computed

Carcinoma of ampulla of Vater is a papillary neoplasm arising in the last centi meter of the common bile duct (CBD) where it passes through the wall of the duodenum and ampulla of Vater. We report the case of an ampulla of Vater cancer with the characteristic extensive invasion to the whole pancreas. A 53-year old female was admitted to our hospital with chief complaint of epigastric pain, steatorrhea, and weight loss for 2 months. On physical examination, epigastric tenderness was detected. Gastroduodenoscopic biopsy from the mass revealed well differentiated adenocarcinoma. Abdominal CT demonstrated intraduodenal protruding mass with diffuse invasion to the whole pancreas. Arterial phase helical CT scan revealed intense heterogenous enhancement of entire pancreas. She underwent the Whipple procedure with total pancreatectomy. Final pathologic diagnosis was adenocarcinoma of ampulla of Vater with invasion of the whole pancreas and metastasis to the large number of regional lymph nodes.
Adenocarcinoma ; Ampulla of Vater* ; Biopsy ; Common Bile Duct ; Diagnosis ; Duodenum ; Female ; Humans ; Lymph Nodes ; Middle Aged ; Neoplasm Metastasis ; Pancreas* ; Pancreatectomy ; Physical Examination ; Steatorrhea ; Tomography, Spiral Computed ; Tomography, X-Ray Computed ; Weight Loss