1/50. Familial enteropathy: a syndrome of protracted diarrhea from birth, failure to thrive, and hypoplastic villus atrophy.We have studied 5 infants with persistent severe diarrhea from birth and marked abnormalities of absorption associated with failure to thrive leading to death in 4 infants. Three had siblings who died and a sibling of a 4th is ill at present, all with a similar illness; 2 were the products of consanguinous marriages. Exhaustive investigation failed to identify a recognized disease entity in any patient. steatorrhea, sugar malabsorption, dehydration, and acidosis were severe in all patients, whatever the diet fed. Total parenteral nutrition was used, but excessive stool water and electrolyte losses persisted even when nothing was fed by mouth. There was no evidence of a hematological or consistent immunological defect in any infant and no abnormalities of intestinal hormones were noted. In the duodenal mucosa of all infants we saw similar abnormalities characterized by villus atrophy, crypt hypoplasia without an increase in mitoses or inflammatory cell infiltrate in the lamina propria and in villus enterocytes absence of a brush border, increase in lysosome-like inclusions, and autophagocytosis. In 3 infants studied by marker perfusion of the proximal jejunum we found abnormal glucose absorption and a blunted response of Na absorption to actively transported nonelectrolytes; in 2 there was net secretion of Na and H2O in the basal state. Our patients evidently suffered from a congenital enteropathy which caused profound defects in their capacity to assimilate nutrients. The similar structural lesion seen in the small intestinal epithelium of all of our cases undoubtedly contributed to their compromised intestinal function, but the pathogenesis of this disorder, if indeed it is a single disease, remains obscure.- - - - - - - - - - ranking = 1keywords = enteropathy (Clic here for more details about this article) |
2/50. Autoimmune enteropathy with distinct mucosal features in T-cell activation deficiency: the contribution of T cells to the mucosal lesion.BACKGROUND: Autoimmune enteropathy is normally characterised by crypt hyperplastic villous atrophy with enterocyte autoantibodies, activation of mucosal lymphocytes and increased epithelial HLA-DR. This case involved a severely affected Portuguese infant who was found to have lymphocyte activation deficiency and demonstrated correspondingly distinct mucosal features. methods: A female infant of nonconsanguineous parents was treated for vomiting and diarrhoea, first with milk exclusion and then with parenteral nutrition. lymphocyte subsets and immunoglobulin concentrations were normal, but in vitro testing showed no activation in response to phytohaemagglutinin, candida, or purified protein derivative, although the response to interleukin (IL)-2 was intact. interleukin-2 deficiency was excluded. Analysis of jejunal biopsy specimens revealed only mild villous blunting with absent goblet cells, normal epithelial proliferation, and no crypt hyperplasia. The dense infiltrate of CD8 and CD4 T lymphocytes showed normal CD2 and CD3 expression but no activation or proliferation markers. HLA-DR was not increased on epithelium or lymphocytes. Thus, in addition to in vitro evidence for lymphocyte activation deficiency, the mucosal specimens showed no evidence of in situ T-cell activation. RESULTS: After development of overwhelming septicaemia, the patient died at 18 months, just before a planned bone marrow transplant. CONCLUSIONS: These findings confirm significant heterogeneity within autoimmune enteropathy. Formal immune function testing should be performed in all affected infants to identify T-cell activation deficiencies. The distinct mucosal findings suggest that activated T cells usually induce the crypt hyperplastic villous atrophy characteristic of classic autoimmune enteropathy.- - - - - - - - - - ranking = 1.4keywords = enteropathy (Clic here for more details about this article) |
3/50. thymoma-associated autoimmune enteropathy. A report of two cases.Autoimmune enteropathy is an increasingly recognized cause of severe protracted diarrhea, usually affecting infants and children predisposed to autoimmune phenomena. Although this may be a common cause of diarrheal illness, it is scarcely recognized in the American literature. In association with thymoma, a case of so-called graft-vs-host-like colitis and 2 cases of chronic diarrhea associated with thymoma were reported, but, to our knowledge, no cases of autoimmune enteropathy have been reported as such. We describe 2 adults with autoimmune enteropathy found in association with a thymoma.- - - - - - - - - - ranking = 1.4keywords = enteropathy (Clic here for more details about this article) |
4/50. ceroid enteropathy and vitamin e deficiency.ceroid (polymerised peroxidised polyunsaturated fatty acids) deposition in the intestine is a result of chronic malabsorption and vitamin e deficiency. This gives the bowel a striking brown colour. Three patients are described with this condition. The macroscopic and microscopic appearances were similar, but the cause of the malabsorption differed. In one patient with polyarteritis there was regression of the pigments with improvement of the malabsorption after treatment with prednisone.- - - - - - - - - - ranking = 0.8keywords = enteropathy (Clic here for more details about this article) |
5/50. Unusual findings in two cases of Langerhans' cell histiocytosis.We report unusual findings in two patients with Langerhans' cell histiocytosis (LCH), namely a cervical mass lesion with extensive destruction of the posterior elements of a cervical vertebra and gastrointestinal lesions as part of multisystem involvement. The aim of our report is threefold. Firstly, LCH can be responsible for osteolysis of the vertebral posterior arches, with or without involvement of the vertebral body, and should be included in the differential diagnoses of cervical mass lesions. Secondly, in a patient with confirmed LCH and additional protein-losing enteropathy, gastrointestinal involvement should be considered as a possibility since it is an important factor for establishing prognosis. Thirdly, LCH lesions can be very extensive and yet have a good response to therapy, whereas less spectacular lesions may not respond or respond only partially to therapy. Thus, an important factor in establishing prognosis is the presence of multisystem involvement at diagnosis, regardless of the extent of a lesion at a particular site.- - - - - - - - - - ranking = 0.2keywords = enteropathy (Clic here for more details about this article) |
6/50. Identical T-cell expansions in the colon mucosa and the synovium of a patient with enterogenic spondyloarthropathy.Intestinal T lymphocytes activated by antigen are suspected to play a key role in enterogenic spondyloarthropathies (SpA). Therefore, we aimed to identify and functionally characterize T-cell clones that are coexpanded in the intestinal mucosa and the synovium. colon, peripheral blood, and synovium of a patient with enterogenic SpA were screened for clonal T-cell expansions by TCRB-CDR3 length analysis and sequencing. T-cell clones expanded in vivo were isolated from archived synovial cells by targeted T-cell cloning and characterized for phenotype, cytokine production, and antigen specificity. The synovial TCRBV18( ) T-cell repertoire of the patient was dominated by 2 CD8( ) T-cell clones using related CDR3. Both clones were expanded throughout the colon and were present in the peripheral blood. Upon in vitro stimulation with PDB/ionomycin, they showed predominantly interferon gamma and interleukin (IL)-4 but also tumor necrosis factor alpha and IL-10 production and did not specifically lyse autologous T-cell blasts, B-cell lines, or other autologous or allogeneic target or CD1d-transfected cells. These findings strongly suggest that T lymphocytes activated by antigen in the intestinal mucosa contribute to joint inflammation in enterogenic SpA by recognition of antigens specific for the inflamed synovium.- - - - - - - - - - ranking = 1.0314669794605E-6keywords = hiv (Clic here for more details about this article) |
7/50. One-month-old infant with multiple ulcers of stomach, small bowel, large bowel, and protein-losing enteropathy: case report.Multiple inflammatory ulcers of the gastrointestinal tract are rare in young infants. Most cases are caused by infectious organisms, vasculitis, or an autoimmune process. We report a 1-month-old infant who was healthy until he presented with an inflammatory mesenteric cyst, and multiple ulcers of the stomach, duodenum, jejunum, ileum, and colon. Histologically, the ulcerations were sharply demarcated, full thickness, and filled with macrophages. He had a low serum albumin and IgG due to protein-losing enteropathy. He was treated with supportive care and immunomodulating drugs. The gastrointestinal inflammation resolved by 3 and 1/2 years of age. The medications were withdrawn at 5 and 1/2 years of age he had no relapse of clinical symptoms. He continues to have asymptomatic mild hypoalbuminemia and low serum IgG. We could not find a report of a similar clinical presentation and outcome.- - - - - - - - - - ranking = 1keywords = enteropathy (Clic here for more details about this article) |
8/50. Congenital microvillous inclusion disease presenting as antenatal bowel obstruction.Prenatal ultrasound has led to confidence in the antenatal diagnosis of intestinal obstruction allowing counseling and birth planning. We describe a male infant of a diabetic mother who had an antenatal diagnosis of distal bowel obstruction. This baby was subsequently found not to have bowel obstruction, but a congenital enteropathy - microvillous inclusion disease. The antenatal scans had demonstrated polyhydramnios as well as multiple fluid-filled dilated loops of bowel in the fetal abdomen. To our knowledge, similar prenatal ultrasound findings have not been previously described in this condition. The baby was delivered in a pediatric surgical center and postnatally there was no evidence of bowel obstruction either clinically or on abdominal X-ray. This baby initially fed well, but became collapsed and acidotic on his third day, having lost 26% of his birth weight due to excessive stool loss. The diagnosis of microvillous inclusion disease was made by electron microscopy of a small bowel biopsy. Congenital microvillous inclusion disease is a very rare inherited enteropathy with high mortality and morbidity. This condition, and other enteropathies, should be considered in cases in which antenatally diagnosed bowel obstruction is not confirmed after birth.- - - - - - - - - - ranking = 0.4keywords = enteropathy (Clic here for more details about this article) |
9/50. The use of intramuscular propantheline in the short bowel syndrome.A patient is presented with the short bowel syndrome who because of massive diarrhea was unable to maintain fluid and electrolyte balance with the aid of the usual antidiarrhea drugs. Her bowel remnant consisted of approximately 155 cm of proximal jejunum. Intramuscular propantheline has allowed this patient to function normally for the past 36 months. Balance studies are presented to document the benefit of this drug. propantheline's effectiveness is probably secondary to its marked slowing of intestinal motility.- - - - - - - - - - ranking = 2.6676788828088E-7keywords = aid (Clic here for more details about this article) |
10/50. Preclinical Cushing's syndrome presenting with isolated adrenocorticotropin (ACTH) deficiency-like manifestations and severe hypoalbuminemia without overt adrenal masses in a patient with chilaiditi syndrome and mental retardation.A 52-year-old man with chilaiditi syndrome and mental retardation was admitted to Kanagawa rehabilitation Hospital for severe hypoglycemic coma with malnutrition. This patient was first diagnosed as partial isolated adrenocorticotropin deficiency according to his symptoms and clinical course, but he was finally diagnosed as preclinical Cushing's syndrome. Manifestations of this case seemed unusual in spite of autonomic cortisol secretion and the detailed mechanisms of symptoms were unclear. The present case indicates that preclinical Cushing's syndrome may present with various manifestations, and careful diagnosis is necessary.- - - - - - - - - - ranking = 1.3338394414044E-6keywords = aid (Clic here for more details about this article) |
| | Next -> |