A case of maternally inherited diabetes and deafness with rhabdomyolysis / 대한내과학회지

mutation at position 3,243 in the mtDNA-encoded tRNALeu (UUR) gene is associated with the syndrome of maternally inherited diabetes and deafness (MIDD). It is a rare form of diabetes first described in 1992 characterized by maternal relatives with an early middle-aged onset of diabetes, bilateral sensorineural hearing loss, and a normal or low body mass index. A 37-year-old woman was admitted because of general weakness. She had diabetes mellitus (DM) and deafness. Her mother had DM, her second sister had DM and deafness, and her little brother had DM. The molecular genetic analysis identified the A3243G point mutation. In addition, rhabdomyolysis was diagnosed based on the initial laboratory findings and a whole-body bone scan. We report a case of MIDD with rhabdomyolysis due to a low carbohydrate intake and present it with a literature review.

A Case of Aortopulmonary Fistula Caused by a Huge Thoracic Aortic Aneurysm

Aortopulmonary fistula is an uncommon but often fatal condition resulting as a late complication of an aortic aneurysm. The most common cause is erosion of a false aneurysm of the descending thoracic aorta into the pulmonary artery, resulting in the development of a left-to-right shunt and leading to acute pulmonary edema and right heart failure. We report an our experience with aortopulmonary fistula as a rare complication associated with thoracic aortic aneurysm and high output heart failure.

A Case of Blue Rubber Bleb Nevus Syndrome / 대한소화기내시경학회지

Blue rubber bleb nevus syndrome is a rare disorder that's characterized by multiple venous malformations of the skin and gastrointestinal tract, and these lesions usually cause episodes of occult gastrointestinal hemorrhage and iron deficiency anemia. We report here on a case of a 57-year-old woman who presented with intermittent melena and multiple cutaneous venous malformations. The endoscopic and radiologic examinations show multiple bluish polypoid venous malformations on the gastrointestinal tract, retroperitoneum, liver, mediastinum and lung. We were able to diagnose her as suffering from blue rubber bleb nevus syndrome and we treated her with iron supplementation for anemia. We report this case along with a brief review of the relevant literature.

A Case of Liver Abscess Associated with Duodenal Perforation by a Toothpick / 대한소화기내시경학회지

The ingestion of foreign bodies into the gut is rather common. Most these foreign bodies are passed out spontaneously without complications. Our patient was hospitalized for fever, nausea and vomiting for one week. On the initial endoscopic examination, a toothpick was seen to be impacted in the wall of the duodenal bulb. Air bubbles were noted at the site where the toothpick was removed. The duodenal perforation was treated with endoscopic hemoclipping. Abdominal CT showed free air in the periduodenum and there was a liver abscess. Therefore, liver abscess associated with duodenal perforation by the toothpick was diagnosed. On the cytology of the aspirated materials from the liver abscess, sulfur granule formation was noted and hepatic actinomycosis was diagnosed. The liver abscess was successfully treated with CT-guided abscess drainage and antibiotics. We report here on an unusual case of a liver abscess associated with duodenal perforation by a toothpick, along with a review of the literature.

A Case of Emery-Dreifuss Muscular Dystrophy by Emerin Gene Mutation

Emery-Dreifuss muscular dystrophy (EDMD) is a degenerative myopathy characterized by mild, slowly progressing weakness, muscle atrophy, and early contracture of the neck, ankle and elbow. Heart involvement becomes apparent during the teenage years and is characterized by cardiac conduction defects and the infiltration of the myocardium by fibrous and adipose tissues. Heart block can eventually lead to sudden death, and therefore, early treatment with a cardiac pacemaker may improve symptoms and be lifesaving in patients with heart block. We describe our experience of pacemaker implantation in a 14-year old boy with X-linked recessive EDMD and emerin gene mutation. His electrocardiogram findings showed junctional escape beats, and his clinical features, i.e., ECG, nerve conduction test, electromyography and muscle biopsy findings were compatible with EDMD. He was implanted with a VVI type permanent pacemaker following an electrophysiologic study.

Percutaneous Cholecystostomy and Percutaneous Abscess Drainage in Two Patients of Gallbladder Perforation with High Surgical Risk / 대한소화기내시경학회지

Gallbladder perforation is a grave complication of acute cholecystitis, which has a high incidence of morbidity and mortality in the elderly patients. The unfavorable nature of this disease is due in part to a delay in diagnosis because of the similarity in clinical presentation of patients with uncomplicated cholecystitis and those with perforation. Although prompt surgical intervention with cholecystectomy is the treatment of choice, morbidity and mortality rates rise markedly in the elderly patient with severe systemic illness. In acute cholecystitis, percutaneous cholecystostomy is a good alternative to surgical cholecystectomy or is a temporary measure until a patient is sufficiently stable for surgery. In this report, we describe our experience of successful use of percutaneous cholecystostomy and intra- abdominal percutaneous catheter drainage for the therapy of gallbladder perforation in two patients with high surgical risk.

A Case of Duodenal Intramural Hematoma Associated with Henoch-Sch nlein Purpura / 대한소화기내시경학회지

Henoch-Sch nlein purpura is a systemic small-vessel IgA dominant vasculitis involoving the capillaries, arterioles, or venules. It is characterized by the classic tetrad of abdominal pain, arthralgia, typical rash, and renal involvement, all of which can occur in any order and at any time over several days to weeks. The central nervous system and lungs may be involved. The gastrointestinal tract is involved in more than 50 percent of patients, manifested most commonly by abdominal pain and gastrointestinal bleeding. And rarely may occur intussusception, bowel nerosis, perforation and intramural hematoma of the duodenum. We report a case of intramural hematoma of the duodenum with Henoch-Sch nlein purpura in 48 year old female patient which was demostrated by upper gastrointestinal endoscopy, abdominal CT scan, hypotonic duodenography and histologic finding of duodenal biopsy. She was treated with supportive care and improved rapidly without any serious gastrointestinal complications.

A case of gastric Non-Hodgkin's lymphoma in AIDS patient / 대한내과학회지

Non-Hodgkin's lymphoma (NHL) is the secondary most common tumor in HIV-infected individuals. The AIDS-related lymphomas are a late manifestation of HIV infection and may increase in frequency as patients live longer with highly active antiretroviral therapy and effective prophylaxis of opportunistic infections. Histologically AIDS-related NHL are either high (2/3) or intermediate (1/3) grade lymphoma. We report a case of gastric Non-Hodgkin's lymphoma in AIDS patient. Two years ago, she was diagnosed as HIV-infected individual in public hospital. She presented with epigastric pain and mass-like sensation. Under the impression of gastric cancer, subtotal gastrectomy was done. But, she diagnosed as diffuse large B cell lymphoma by histologic finding, immunohistochemical study. This is the first report of gastric Non-Hodgkin's lymphoma from AIDS patients in Korea.

Three Cases of Autoimmune Thyroid Disease in a Family through Three Generation / 대한내분비학회지

According to recent studies, the immunogenetic factors are thought to be account for a part of the etiopathogenesis of autoimmune thyroid disease. In Korea, there was one report on the relationship between HLA DR5, DR8, B13 and autoimmune thyroid disease. There were also several reports on a familial hereditary transmission of autoimmune thyroid disease in other countries but not in Korea. We describe the occurrence of autoimmune thyroid disease that affected three members of a family through three generations. This is the first report on familial hereditary transmission of autoimmune thyroid disease in Korea. We report on an 80-year-old woman who presented with Hashimoto's thyroiditis, her 53-year-old daughter who had Graves' disease, and her 29-year-old grand-daughter who had Graves' disease. In order to identify the immunogenetic influence in these cases, HLA haplotypes & thyroid autoantibody were studied. HLA DRB3*02 was obseved in each of the patents. HLA DQB1*0301, DR11, DQB1*05031 and DR14 were observed in the two cases. However, HLA B13, DR5 and DR8 were not observed. The patients are currently undergoing follow-up using PTU, methimazole and synthyroid medication.

Direct Invasion of Thyroid Papillary Carcinoma to Esophagus Presenting as an Intraluminal Polypoid Mass Which Causes Hematemesis / 대한소화기내시경학회지

We report an unusual case of metastatic thyroid papillary carcinoma directly invades the esophagus presenting as an intraluminal polypoid mass which causes hematemesis. The patient had a past medical history of thyroid nodule. Physical examination was unremarkable except the palpable thyroid mass. Esophagoscopy and esophagography revealed an intraluminal polypoid mass to the left of the cervical esophagus. Chest computed tomography showed round, homogenous, well-enhancing mass and calcifying thyroid nodule is found in front of the mass. Thyroid lobectomy and partial esophageal resection was performed. Microscopic finding showed typical features of thyroid papillary carcinoma. Metastatic thyroid papillary carcinoma should be included in the differential diagnosis of an intraluminal polypoid esophageal mass, particularly if the patient has a known thyroid tumor.