We report the onset of pure red cell aplasia (PRCA) in a patient with a history of polyglandular syndrome including Addison's disease, malabsorption syndrome, diabetes type I and gastric hyperplastic polyposis. An autoimmune origin for this complex disorder was not supported by the presence of organ specific antibodies, but T cells were found to be of polyclonal origin, as demonstrated by molec...

Acquired idiopathic hypogammaglobulinaemia can be associated with a sprue-like syndrome in about 20% of patients (Gitlin, Gross, and Janeway, 1959). Hermans, Huizenga, Hoffman, Brown, and Markowitz (1966) described the association of hypogammaglobulinaemia with nodular lymphoid hyperplasia of the small intestine, recurrent upper respiratory infections, the malabsorption syndrome with steatorrho...

BACKGROUND Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortuous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. CASE REPORT A 19-year o...

OBJECTIVE To investigate the prevalence of lactose and fructose intolerance in children with chronic abdominal pain. METHODS Hydrogen breath tests were done to detect lactose and fructose malabsorption in 86 children with chronic abdominal pain (44 irritable bowel syndrome, 24 functional abdominal pain and 17 functional abdominal pain syndrome as per Rome III criteria) presenting to a Pediatr...

ypoparathyroidism-retardation-dysmorphism (HRD) syndrome (OMIM 241410), also known as SanjadSakati syndrome, is a rare autosomal recessive disorder characterized by hypoparathyroidism, growth failure, developmental delay, and characteristic facies. We describe the effective short-term use (tapered over 12 days) of recombinant parathyroid hormone (PTH) (teriparatide) in an unusual genetic condit...

Disconnected duct syndrome (DDS) is defined by a complete discontinuity of the pancreatic duct, such that the secretions of pancreas distal to the discontinuity fails to drain into the duodenum. It usually follows acute necrostising pancreatitis. This duct disruption occurs predominately in the pancreatic neck region, which represents a watershed area that is vulnerable to perfusion abnormaliti...

The current policy in this department is to utilize small intestinal biopsy early in the course of investigation of children with suspected malabsorption (Townley, 1971). Also, we have not been unduly hesitant to perform intestinal biopsy in research studies, after the procedure and its risks have been explained to parents (Barnes and Townley, 1973). Others have raised doubts about the safety (...

Plasma Folic Acid Concentrations in Middle-Aged Subjects, Maximilian Ledochowski, Florian Überall, Theresia Propst, and Dietmar Fuchs (Departments of 1 Clinical Nutrition and 2 Gastroenterology, and 3 Institute of Medical Chemistry and Biochemistry, University of Innsbruck, A-6020 Innsbruck, Austria; * address correspondence to this author at: Institute of Medical Chemistry and Biochemistry, Un...