Child ; Humans ; Malabsorption Syndromes ; Gastritis

Celiac disease (CD) is an immune-mediated enteropathy and is a rare disease in Asia, including in Korea. However, the ingestion of wheat products, which can act as a precipitating factor of CD, has increased rapidly. CD is a common cause of malabsorption, but many patients can present with various atypical manifestations as first presented symptoms, including anemia, osteopenia, infertility, and neurological symptoms. Thus, making a diagnosis is challenging. We report a case of CD that mimicked amyotrophic lateral sclerosis (ALS). The patient was a sexagenary man with a history of progressive motor weakness for 2 years. He was highly suspected as having ALS. During evaluation of his neurological symptoms, esophagogastroduodenoscopy (EGD) was performed because he had experienced loose stools and weight loss for the previous 7 months. On EGD, the duodenal mucosa appeared smooth. A biopsy revealed severe lymphoplasma cell infiltration with flattened villi. His serum endomysial antibody (immunoglobulin A) titer was 1:160 (reference, <1:40). Finally, he was diagnosed as having CD, and a gluten-free diet was immediately begun. At a 4-month follow-up, his weight and the quality of his stool had improved gradually, and the neurological manifestations had not progressed.
Amyotrophic Lateral Sclerosis* ; Anemia ; Asia ; Biopsy ; Bone Diseases, Metabolic ; Celiac Disease* ; Diagnosis ; Diet, Gluten-Free ; Eating ; Endoscopy, Digestive System ; Follow-Up Studies ; Humans ; Infertility ; Korea ; Malabsorption Syndromes ; Mucous Membrane ; Neurologic Manifestations* ; Precipitating Factors ; Rare Diseases ; Triticum ; Weight Loss

A case of generalized primary amyloidosis with a reveiw of the literatures is reported. The 38 year old patient suffered from malabsorption syndrome for a year and was presented chronic renal failure with renal enlargment, myxedema and hemorrhagic gastritis. Biopsy of kidney and stomach revealed characteristic findings of amyloidosis by congo red stain and electronmicroscopy.
Adult ; Amyloidosis* ; Biopsy ; Congo Red ; Gastritis ; Humans ; Kidney ; Kidney Failure, Chronic ; Malabsorption Syndromes* ; Myxedema ; Stomach

INTRODUCTION: Small intestinal bacterial overgrowth (SIBO) occurs in varying frequency in irritable bowel syndrome (IBS). We studied the frequency of SIBO in IBS and chronic non-specific diarrhea (CNSD). METHODS: 129 patients with IBS (Manning's criteria), 73 with CNSD (> or = 4 weeks diarrhea with two of these tests normal [urine D-xylose, fecal fat and duodenal biopsy]) and 51 healthy controls (HC) were evaluated for SIBO using glucose hydrogen breath test (GHBT). Diarrhea-predominant IBS (D-IBS) was grouped into CNSD. Rise in breath hydrogen 12 ppm above basal following 100 g glucose was diagnostic of SIBO. RESULTS: Of 129 patients with IBS, 7 were constipation (C-IBS), and 122 were of indeterminate type (I-IBS). Patients with IBS were younger than HC and CNSD (IBS vs. HC: 36.6 yr +/- 11.4 vs. 44.1 yr +/- 13.6, p = 0.001; IBS vs. CNSD: 36.6 yr +/- 11.4 vs. 42 yr +/- 14.5, p = 0.003). Patients with CNSD were comparable to HC in age (42 yr +/- 14.5 vs. 44.1 yr +/- 13.6, p = ns). Patients with IBS were more often male than HC [108/129 (83.7%) vs. 34/51 (66.7%) p = 0.02]; gender of CNSD and HC was comparable [male 39/73 (53.4%) vs. 34/51 (66.7%) p = ns]. SIBO was commoner in CNSD than HC [16 (21.9%) vs. 1 (2%), p = 0.003], but was comparable in IBS and HC [11 (8.5%) vs. 1 (2%), p = 0.18]. Patients with CNSD more often had SIBO than IBS [16 (21.9%) vs. 11 (8.5%), p = 0.007]. CONCLUSIONS: SIBO was more common in CNSD including D-IBS than other types of IBS and HC.
Breath Tests ; Constipation ; Diarrhea ; Glucose ; Humans ; Hydrogen ; Irritable Bowel Syndrome ; Malabsorption Syndromes ; Male ; Xylose

Irritable bowel syndrome (IBS) is one of the most prevalent functional gastrointestinal disorders. It is a multifactorial disorder with its pathogenesis attributed to abnormal gastrointestinal motility, low-grade inflammation, visceral hypersensitivity, communication in the gut-brain axis, and so on. Traditionally, IBS has been treated with diet and lifestyle modification, fiber supplementation, psychological therapy, and pharmacological treatment. Carbohydrates are intermingled with a wide range of regularly consumed food including grains such as rye and wheat, vegetables, fruits, and legumes. Short-chain carbohydrates that are poorly absorbed exert osmotic effects in the intestinal lumen increasing its water volume, and are rapidly fermented by bacteria with consequent gas production. These effects may be the basis for the induction of most of the gastrointestinal symptoms. This has led to the use of lactose-free diets in those with lactose intolerance and of fructose-reduced diets for fructose malabsorption. As all poorly absorbed short-chain carbohydrates have similar and additive effects in the intestine, a concept has been developed to regard them collectively as FODMAPs (fermentable oligosaccharides, disaccharides, monosaccharides and polyols) and to evaluate a dietary approach that restricts them all. Based on the observational and comparative studies, and randomized-controlled trials, FODMAPs have been shown to trigger gastrointestinal symptoms in patients with IBS. Food choice via the low FODMAPs and potentially other dietary strategies is now a realistic and efficacious therapeutic approach for managing symptoms of IBS.
*Diet, Carbohydrate-Restricted ; Dietary Supplements ; Humans ; Hypersensitivity/complications ; Inflammation/complications ; Intestines/pathology ; Irritable Bowel Syndrome/complications/*diagnosis/diet therapy ; Malabsorption Syndromes/complications ; Monosaccharides/metabolism ; Oligosaccharides/metabolism

OBJECTIVETo explore the clinical features and mutations of MYO5B gene in a family affected with microvillus inclusion disease.

METHODSClinical data of an infant affected with microvillus inclusion disease was collected. Genomic DNA was extracted from peripheral blood samples from the patient and her parents. PCR amplification and Sanger sequencing were performed to analyze all the exons and their flanking sequences of the MYO5B gene.

RESULTSThe patient presented with complicated manifestations including respiratory distress syndrome, dehydration, acidosis, bowel dilatation, liver and kidney dysfunction, and severe and intractable diarrhea. A compound mutation of the MYO5B gene, i.e., IVS37-1G>C/c.2729_2731delC (p.R911Afs916X), was discovered in the patient. The former was a splice-site mutation inherited from the mother, while the latter was a frameshift mutation inherited from the father. Both were not reported previously.

CONCLUSIONBased on the clinical and molecular evidence, the patient was diagnosed with microvillus inclusion disease. Above finding has expanded the mutation spectrum of the MYO5B gene, which can provide valuable information for genetic counseling for the family.

Family ; Female ; Genetic Testing ; methods ; Genotype ; Humans ; Infant ; Malabsorption Syndromes ; genetics ; Male ; Microvilli ; genetics ; pathology ; Mucolipidoses ; genetics ; Mutation ; genetics ; Myosin Heavy Chains ; genetics ; Myosin Type V ; genetics ; Phenotype

Jejunal and ileal diverticula are rare in adults. Duodenal diverticula are five times more prevalent than jejunoileal diverticula. Most patients are asymptomatic. However, chronic symptoms including intermittent abdominal pain, flatulence, diarrhea and constipation are seen in 10%-30% of patients. Gastric cancer is the second most common cancer in South Korea and here we report a case of early gastric cancer with multiple duodenal and jejunal diverticula. A 67-year-old woman was admitted to Konkuk University Medical Center with chronic diarrhea and weight loss of 19 kg over 2 months. Following gastroduodenoscopy, we identified adenocarcinoma of the lower body of the stomach. On abdominopelvic computed tomography, diverticula of duodenum and jejunum were found. Patient underwent distal gastrectomy and gastroduodenostomy with lymphadenectomy. She was discharged on the tenth postoperative day without complications.
Abdominal Pain ; Academic Medical Centers ; Adenocarcinoma ; Adult ; Aged ; Constipation ; Diarrhea ; Diverticulum* ; Duodenum ; Female ; Flatulence ; Gastrectomy ; Humans ; Jejunum ; Korea ; Lymph Node Excision ; Malabsorption Syndromes ; Stomach ; Stomach Neoplasms* ; Weight Loss

Microvillus inclusion disease (MVID) is an autosomal recessive disorder caused by biallelic mutations in the MYO5B or STX3 gene. Refractory diarrhea and malabsorption are the main clinical manifestations. The aim of this study was to investigate the clinical features and MYO5B gene mutations of an infant with MVID. A 21-day-old female infant was referred to the hospital with the complaint of diarrhea for 20 days. On physical examination, growth retardation of the body weight and length was found along with moderately jaundiced skin and sclera. Breath sounds were clear in the two lungs and the heart sounds were normal. The abdomen was distended and the veins in the abdominal wall were observed. The liver and spleen were not palpable. Biochemical analysis revealed raised serum total bile acids, bilirubin, transaminases and γ-glutamyl transpeptidase while decreased levels of serum sodium, chloride, phosphate and magnesium. Blood gas analysis indicated metabolic acidosis. The preliminary diagnosis was congenital diarrhea, and thus parenteral nutrition was given along with other symptomatic and supportive measures. However, diarrhea, metabolic acidosis and electrolyte disturbance were intractable, and the cholestatic indices, including transaminases, γ-glutamyl transpeptidase, bilirubin and total bile acids, remained at increased levels. One month later, the patient was discharged and then lost contact. On genetic analysis, the infant was proved to be a compound heterozygote of the c.310+2Tdup and c.1966C>T(p.R656C) variants of the gene MYO5B, with c.310+2Tdup being a novel splice-site mutation. MVID was thus definitely diagnosed.
Female ; Humans ; Infant, Newborn ; Malabsorption Syndromes ; diagnosis ; genetics ; Microvilli ; genetics ; pathology ; Mucolipidoses ; diagnosis ; genetics ; Mutation ; Myosin Heavy Chains ; genetics ; Myosin Type V ; genetics

Patients with a functional gastrointestinal disorder (FGID) frequently report abdominal discomfort and bloating after ingesting specific foods. However, evidence on the relationship between foods and symptoms is lacking. In addition, the diagnosis of food hypersensitivity and food intolerance does not seem to be established yet. Food hypersensitivity can be divided into immunologically mediated and non-immunologically mediated forms. The immunologically mediated forms are specifically termed food allergies, whereas the non-immunologically mediated forms are referred to as food intolerances. Various diagnostic tools are required to make an accurate diagnosis of a food allergy or a food intolerance. First, a thorough examination of the history and basic tests to rule out other organic diseases are needed. Next, diagnostic tests for immunoglobulin E-mediated food allergies are required and diseases, such as celiac disease and lactose intolerance, should be differentiated. A diagnosis for non-celiac gluten sensitivity (NCGS) is also required. A double blind, randomized, placebo-controlled, dietary challenge test can be used for diagnosing NCGS and food intolerance. Diagnostic tests for food intolerance, in which scientific evidence is lacking, may result in a misdiagnosis of food hypersensitivity or food intolerance in patients with a FGID. Therefore, an accurate diagnosis of food hypersensitivity or food intolerance based on reliable tests is required.
Celiac Disease ; Diagnosis ; Diagnostic Errors ; Diagnostic Tests, Routine ; Food Hypersensitivity ; Gastrointestinal Diseases ; Glutens ; Humans ; Immunoglobulins ; Lactose Intolerance

Eosinophilic gastroenteritis (EG) is a rare disease characterized by massive eosinophilic infiltration of gastrointestinal tissue, peripheral eosinophilia, and nonspecific gastrointestinal symptoms. The mucosal type of EG commonly presented with malabsorption and anemia. However, the role of food allergy as a stimulus to EG has not yet been clearly defined. A 27-year-old man was referred to the Emergency Department with dyspepsia and leg swelling. The initial laboratory test should as follows: hemoglobin level, 6.4 g/dL; white blood cell count, 7,400/microL with 24.4% of eosinophil fraction; serum total protein, 3.9 g/dL; albumin level, 2.8 g/dL. Gastric endoscopy ruled out gastrointestinal bleeding showed multiple nodular raised lesions on the gastric antrum, which revealed increased eosinophilic infiltration (above 100/high power field). He had experienced nausea whenever eating beef, porks or fish. High serum specific IgE levels to offending foods (beef, 0.82 kU/L; pork, 0.83 kU/L; egg white, 0.40 kU/L; egg yolk, 0.54 kU/L; milk, 0.81 kU/L) were noted. He was instructed strictly to avoid food allergens with oral prednisolone therapy. Approximately 6 months after offending food restriction, the eosinophil count fell down to 400/microL, the hemoglobin level was returned to 11.5 g/dL and the serum albumin level was increased to 4.1 g/dL. We report a case of EG caused by multiple food allergy which leads to malabsorption and iron-deficiency anemia.
Adult ; Allergens ; Anemia* ; Anemia, Iron-Deficiency ; Dyspepsia ; Eating ; Egg White ; Egg Yolk ; Emergency Service, Hospital ; Endoscopy ; Eosinophilia ; Eosinophils* ; Food Hypersensitivity* ; Gastroenteritis* ; Hemorrhage ; Humans ; Immunoglobulin E ; Leg ; Leukocyte Count ; Malabsorption Syndromes ; Milk ; Nausea ; Prednisolone ; Pyloric Antrum ; Rare Diseases ; Serum Albumin