Niemann-Pick disease (NPD) is an inherited metabolic disorder caused by a deficiency of the enzyme acid sphingomyelinase coded by SMPD1 gene. In contrast with type A NPD, a severe neurodegenerative disease of infancy, type B NPD patients have little or no neurodegeneration, and frequently survive into adulthood. Although over 100 mutations have been found within the SMPD1 gene causing NPD, there was only one report about SMPD1 mutation status of a Korean NPD patient. We report a case of a 32-yr-old female, who presented with thrombocytopenia without any neurologic involvement. Hepatosplenomegaly was detected by both physical examination and imaging studies, and a thoracic radiograph examination showed a pattern of interstitial lung disease. Biochemical tests revealed increased liver enzymes, cholesterol, triglyceride, and LDL-cholesterol, and decreased HDL-cholesterol. Sea-blue or foamy vacuolated histiocytes occurred in bone marrow and liver. Sequencing analysis of SMPD1 using genomic DNA from peripheral leukocytes identified a compound heterozygote of two mutations at exon 2: p.E246K and p.A357V. The former is a known mutation in an Italian patient, and the latter has not been reported yet. She has received oral rosuvastatin to treat hyperlipidemia at a dose of 10 mg per day for 4 months. This is the second report in which the mutation of SMPD1 gene was detected in a Korean NPD patient. The active genetic analysis of SMPD1 gene in patients with typical findings of type B NPD would enable us to facilitate diagnosis as well as to accumulate data on molecular characteristics of Korean NPD patients.
Adult ; Base Sequence ; Bone Marrow Cells/pathology ; Female ; Humans ; Korea ; Liver/pathology ; Niemann-Pick Disease, Type B/*diagnosis/genetics/radiotherapy ; Pregnancy ; Sea-Blue Histiocyte Syndrome/diagnosis/pathology ; Sequence Analysis, DNA ; Sphingomyelin Phosphodiesterase/genetics ; Tomography, X-Ray Computed

Intramural duodenal hematoma is an uncommon condition, which usually develops after blunt abdominal trauma. It is also reported as a complication of anticoagulant therapy, blood dyscrasia, pancreatic disease, and diagnostic and therapeutic endoscopy. The typical clinical pictures of intramural duodenal hematoma consist of upper abdominal pain, vomiting, fever, and hematochezia, and it is rarely accompanied by intestinal obstruction, peritonitis, and pancreatitis as its complication. We report a case of intramural duodenal hematoma extended to peritoneal cavity, and accompanied by acute pancreatitis following therapeutic endoscopy for duodenal ulcer bleeding in a 32-year-old man who was on maintenance of anti-coagulation therapy after valvular heart surgery.
Acute Disease ; Adult ; Diagnosis, Differential ; Duodenal Diseases/*diagnosis/pathology/surgery ; Duodenal Ulcer/*complications ; Hematoma/*diagnosis/pathology/surgery ; *Hemostasis, Endoscopic ; Humans ; Male ; Pancreatitis/complications/*diagnosis ; Peptic Ulcer Hemorrhage/*therapy ; Postoperative Complications ; Tomography, X-Ray Computed

A consensus meeting on autoimmune pancreatitis (AIP) was held in Seoul on August 31, 2007. Many Korean and Japanese gastroenterologist interested in AIP participated in the joint symposium, and issues related to histology, radiology, clinical manifestation, serology, and diagnostic criteria were discussed. This joint meeting indicated the need for unified diagnostic criterion for AIP in Korea and Japan. Here, we provide a summary of the symposium presentations and discussions.
Asian Continental Ancestry Group ; Consensus ; Humans ; Japan ; Joints ; Korea ; Pancreatitis

Agenesis of dorsal pancreas is a very rare congenital anomaly which comes from the failure of development of the body and tail of pancreas in embryogenesis. Castleman's disease is a rare lymphoid tumor which usually occurred in the mediastinum, but it is very uncommon in the retroperitoneal pancreatic tail area. We report a case of partial agenesis of dorsal pancreas with Castleman's disease in pancreatic tail area, mimicking a pancreatic tumor. A 46-year-old woman was admitted to our hospital with intermittent abdominal discomfort for 2 months. Computed tomography, magnetic resonance imaging, and endoscopic retrograde cholangiopancreatography (ERCP) revealed a tumor at distal pancreatic tail area, short pancreatic duct, and absence of pancreatic body and tail. The surgical excision of the tumor revealed hyaline-vascular type Castleman's disease.
Cholangiopancreatography, Endoscopic Retrograde ; Embryonic Development ; Female ; Giant Lymph Node Hyperplasia* ; Humans ; Magnetic Resonance Imaging ; Mediastinum ; Middle Aged ; Pancreas* ; Pancreatic Ducts ; Pregnancy

BACKGROUND/AIMS: A surgical resection has traditionally been used to treat tumors of the duodenal major papilla. However, radical surgery may cause significant morbidity and mortality. Endoscopic papillectomy has been reported in patients with benign papillary tumors. We evaluated the safety and outcomes of endoscopic papillectomy in patients with a papillary tumor. METHODS: Between January 1994 and December 2003, fifteen patients with ampullary tumors underwent an endoscopic papillectomy using a snare resection. Endoscopic papillectomy was performed in 13 patients diagnosed with an adenoma and in 2 patients diagnosed with an adenocarcinoma, who were contraindicated for surgery. RESULTS: Endoscopic papillectomy was performed in fifteen patients (11 men, 4 women: median age 61.7 years). All the tumors were removed either "en bloc" (14 tumors) or in a "piecemeal" fashion (one tumor). Ten patients were available for follow-up (median, 20.9 months: range, 1~62 months). The procedure-related complications were bleeding (n=1), pancreatitis (n=3), and a duodenal perforation (n=1). The follow-up endoscopy revealed a recurrent adenocarcinoma in 2 patients after 13 months (20%). CONCLUSIONS: Endoscopic papillectomy is a useful alternative for treating a papillary adenoma. The relatively high incidence of pancreatitis this study suggests that stenting into the pancreatic duct will be needed to prevent postprocedure pancreatitis.
Adenocarcinoma ; Adenoma ; Endoscopy ; Female ; Follow-Up Studies ; Hemorrhage ; Humans ; Incidence ; Male ; Mortality ; Pancreatic Ducts ; Pancreatitis ; SNARE Proteins ; Stents

BACKGROUND: Cystic neoplasms of the pancreas are being recognized with increased frequency. In 1993, a report on 123 cases of cystic neoplasms of the pancreas diagnosed over a period of 32 years was published in Korea. Many changes on the concept of cystic neoplasms of the pancreas have been made, including classification and diagnostic criteria. The present study was conducted wherein a new survey on cystic neoplasms of the pancreas in Korea. METHODS: Cystic neoplasms of the pancreas diagnosed over a period of 12 years, from 1993 to 2004 in 25 university hospitals throughout Korea were collected. They were classified according to the World Health Organization classification of cystic neoplasms of the pancreas. RESULTS: A total of 1264 cases of cystic neoplasms of the pancreas were diagnosed. The diagnoses and frequencies are as follows: intraductal papillary mucinous neoplasm, 499 (39.5%); mucinous cystic neoplasm, 318 (25.2%); serous cystic neoplasm, 232 (18.4%); solid pseudopapillary neoplasm, 192 (15.2%); cystic endocrine neoplasm, 11 (0.8%); lymphoepithelial cyst, 8 (0.6%); acinar cell neoplasm, 3 (0.2%); mature teratoma, 1 (0.1%). Increase in the annual number of diagnoses was evident. In intraductal papillary mucinous neoplasm and mucinous cystic neoplasm, a significant increase in mean age was seen in patients with malignant neoplasms. CONCLUSIONS: Cystic neoplasms of the pancreas are diagnosed with increasing frequency in Korea, the most common being intraductal papillary mucinous neoplasm of the pancreas. In intraductal papillary mucinous neoplasm and mucinous cystic neoplasm, the grade of dysplasia increased with mean age, suggesting an adenoma-carcinoma sequence.
Acinar Cells ; Classification ; Diagnosis ; Hospitals, University ; Humans ; Korea* ; Mucins ; Pancreas* ; Teratoma ; World Health Organization

Endoscopic papillary balloon dilation (EBD) for choledocholithiasis is known to be comparable to endoscopic sphincterotomy (EST) especially in cases of small stones. With larger stones, EBD with conventional balloon, which have a diameter of 6-8 mm, was reported as less effective for extraction of stones. We evaluated the efficacy and complications of EBD with large balloons (10-15 mm) after limited EST for retrieval of choledocholithiasis. From February 2005, we have performed EBD with limited EST for retrieval of common bile duct (CBD) stones. The patients who admitted with hyperamylasemia and gallstone pancreatitis were excluded. In cases without CBD dilation, EPBD with 12 mm for 40 seconds was performed. And in cases with CBD dilation, we dilated the sphincters with 15 mm sized balloon for 40 seconds. Total 22 patients (11 of male) were performed EBD with limited EST for retrieval of CBD stones. The median diameter of the stones was 10 mm (5-25 mm). Ten cases had multiple stones and 6 cases periampullary diverticuli. Successful stone removal in the initial session of ERCP with EBD was accomplished in 16 patients (72.7%). And complete retrieval of bile duct stones was achieved in all patients with repeated ERCP. In the aspect of complications, any episodes of perforation, bleeding was not developed. Only one case of mild grade of post-procedural pancreatitis was noted. However, post-procedural hyperamylasemia was developed in 16 cases (68.2%). EBD with larger balloon seems to be a feasible and safe alternative technique for conventional EST in CBD stone extraction.
Treatment Outcome ; *Sphincterotomy, Endoscopic/adverse effects ; Male ; Humans ; Female ; Choledocholithiasis/surgery/*therapy ; *Balloon Dilatation/adverse effects ; Aged

BACKGROUND AND OBJECTIVES: This study was done to evaluate the safety of Gore-Tex as a nasal implant. Materials and METHOD: A retrospective multicenter study was carried out on 15 surgeons from 11 general hospitals and 4 private practice clinics regarding the safety of the Gore-Tex as a nasal implant. The study involved 853 patients, of whom 656 received primary surgery and 197 revision surgery. Gore-Tex was mainly used as a dorsal implant in a form of sheet or as a reinforced nasal implant. RESULTS: The overall complication rate associated with Gore-Tex was 2.5% (21 cases). Infection was the most common complication (18 cases ; 2.1%) followed by 2 cases of seroma and 1 case of persistent nasal swelling. In 19 out of 21 complication cases, the graft needed removal to control the infection or seroma (91% removal rate). Nine cases of infection developed in both primary cases (1.37%) and in revision cases (4.57%), which suggests a higher association rate between infection and revision cases (p=0.0062). Infection developed within 1 month in 5 cases while 9 cases developed infection after 6 months of operation. Other complications such as aesthetic problems (malpositioning of the implant or dorsal irregularities) were found in 15 cases (1.8%) and hematoma in 1 case. CONCLUSION: The infection rate of Gore-Tex used in rhinoplasty was about 2% and it rose significantly in the revision cases. If infected, almost all of the implanted Gore-Tex needs removal; therefore, we suggest judicious use of Gore-Tex in rhinoplasty.
Hematoma ; Hospitals, General ; Humans ; Polytetrafluoroethylene* ; Private Practice ; Retrospective Studies ; Rhinoplasty* ; Seroma ; Transplants

BACKGROUND/AIMS: This study was designed to evaluate normal Korean pancreaticobiliary ducts and to assess the prevalence and pattern of variations and anomalies of theses structures. METHODS: We performed this multicenter study in which 7 university hospitals in Korea participated from March 1997 until June 1999. Total 10,243 ERCP cases were reviewed during this study period. RESULTS: 1) Maximal and midportion diameters of common bile ducts were 6.4+/-1.8 mm and 5.5+/-1.7 mm, respectively. Maximal and midportion diameters of pancreas head were 3.2+/-1.1 mm and 2.7+/-1.0 mm, respectively. Pancreaticobiliary duct diameters of subjects above the age of 40 were greater than those of subjects below the age of 40 (p<0.05). 2) The prevalence of choledochal cyst was 0.32%. The prevalence of gallbladder anomalies and anomalous union of pancreaticobiliary duct was 4.2% and 4.1%, respectively. The prevalence of pancreas divisum and annular pancreas was 0.49% and 0.05%, respectively. The most common type of pancreaticobiliary duct union was V shape (60.2%), followed by U shape (23.7%) and Y shape (16.1%). CONCLUSIONS: Understanding normal pancreaticobiliary structures and being aware of the prevalence and pattern of variations and anomalies of pancreaticobiliary structures will be helpful to diagnose and treat patients with pancreaticobiliary problems.
Cholangiopancreatography, Endoscopic Retrograde ; Choledochal Cyst ; Common Bile Duct ; Gallbladder ; Head ; Hospitals, University ; Humans ; Korea ; Pancreas ; Prevalence

A 45-year-old woman with recurrent disturbances of consciousness for 4 years with hypoglycemia was hospitalized with the clinical suspicion of an insulinoma. The findings of transabdominal ultrasonography, computed tomography and angiography were negative. Transhepatic venous sampling for pancreatic hormone assay showed sudden step-up of serum level of insulin in the venous blood from the tail of the pancreas. Finally, an endoscopic ultrasonographic examination established with certainty the origin of the tumor from the tail of the pancreas, which was subsequently confirmed at operation. In conclusion, endoscopic ultrasonography is a useful and valuable procedure for the localization of insulinoma especially in patient with insulinoma of the pancreas that cannot be localized by conventional methods.
Angiography ; Consciousness ; Endosonography* ; Female ; Humans ; Hypoglycemia ; Insulin ; Insulinoma* ; Middle Aged ; Pancreas ; Ultrasonography