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

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

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