Child ; Humans ; Malabsorption Syndromes ; Gastritis

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

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

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

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

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

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

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

Chronic non-granulomatous jejunoileitis is a rare disease characterized by malabsorption, abdominal pain, and diarrhea that causes shallow ulcers in the small bowel. The etiology of chronic non-granulomatous jejunolieitis remains unknown. A 69-year-old man complained of abdominal pain and lower extremity edema. A 99m-Tc albumin scan showed increased radioactivity at the left upper quadrant, suggesting protein-losing enteropathy. A small bowel follow-through did not disclose any lesions. Wireless capsule endoscopy revealed several small bowel ulcers and strictures. A jejunoileal segmentectomy with end-to-end anastomosis was performed, and the histologic examination revealed non-granulomatous ulcers with focal villous atrophy. Ruling out all other possible diagnoses, we diagnosed our patient with chronic non-granulomatous ulcerative jejunoileitis. Postoperatively, the patient's abdominal pain and lower extremity edema improved, and the serum albumin normalized. This is the first case of chronic non-granulomatous ulcerative jejunoileitis localized by wireless capsule endoscopy and treated successfully with segment resection.
Abdominal Pain/etiology ; Aged ; Atrophy/diagnosis/etiology ; Capsule Endoscopy ; Chronic Disease ; Diagnosis, Differential ; Humans ; Ileitis/*diagnosis/pathology ; Intestine, Small/pathology ; Jejunal Diseases/*diagnosis/pathology ; Malabsorption Syndromes/diagnosis/pathology ; Male ; Mastectomy, Segmental ; Protein-Losing Enteropathies/diagnosis ; Technetium Tc 99m Aggregated Albumin/diagnostic use ; Ulcer/pathology

Vitamin B12 deficiency anemia is a disorder caused by impaired DNA synthesis. Vitamin B12 binds to the intrinsic factor produced by the parietal cells and is absorbed in the distal ileum. After total gastrectomy, megaloblastic anemia is developed due to the absence or deficiency of the intrinsic factor. Concomitant iron deficiency states such as various malabsorption syndromes and alcoholism induce that the bone marrow erythroid megaloblastosis and peripheral blood macroovalocytosis are masked because of countervailing the tendency of iron deficiency to produce microblasts and hypochromic microcytic erythrocytes. We experienced a case of Vitamin B12 deficiency anemia with low RBC mean corpuscular volume (MCV) due to combined with iron deficiency anemia in 42 year-old female patient and report the case with literature review.
Adult ; Alcoholism ; Anemia ; Anemia, Iron-Deficiency* ; Anemia, Megaloblastic ; Bone Marrow ; DNA ; Erythrocyte Indices ; Erythrocytes ; Female ; Gastrectomy ; Humans ; Ileum ; Intrinsic Factor ; Iron* ; Malabsorption Syndromes ; Masks ; Rabeprazole ; Vitamin B 12 Deficiency* ; Vitamin B 12* ; Vitamins*