An unusual cause of protein losing enteropathy in a 2.5-year-old girl: meso-intestinal fibrosis.
ABSTRACT: Introduction Protein losing enteropathy is a symptom characterized by loss of protein in intestines resulting in low protein levels in serum and generalized edema. Several causes are reported for this condition. Hereby we report an as yet unreported cause of protein losing enteropathy that we named meso-intestinal fibrosis. Case Report A 2.5-year-old girl referred with features of partial intestinal obstruction and underwent laparotomy. She had history of protein losing enteropathy since 16 months of age with generalized edema and received albumin every other week. Workup of protein losing enteropathy was inconclusive and only a histology report denoted increase in eosinophils in lamina propria of small intestine and hypoallergenic diet was started for her, but no significant response was noted. Laparotomy revealed lace-like white areas in meso of small intestine and intestinal wall was firm in palpation in some areas. Biopsy was taken from these sites and histology revealed severe fibrosis of meso overlying muscularis propria and also patchy fibrosis of intestinal meso led to severe lymphangiectasis in submucosa of small intestine. Discussion Secondary lymphangiectasis due to obstruction of lymphatic flow is mentioned as cause of protein losing enteropathy. Meso-intestinal fibrosis seen in this case that led to secondary lymphangiectasis and also motility disorder has not been reported as yet.
Project description:Protein-losing enteropathy (PLE) is a rare condition characterized by protein loss through the gastrointestinal tract, leading to hypo-proteinemia. Patients may be asymptomatic or present with variety of complications of hypoproteinemia (e.g., oedema, ascites, pleural, and cardial effusions). We describe a case report of a young girl suffering from behavioral disorder since childhood who presented with generalized oedema, hypoproteinaemia, and microcytic hypochromic anemia. In addition, the girl had an intervention for jejunal atresia and intestinal malrotation in her past medical history. Upper gastrointestinal endoscopy revealed a trichobezoar extending from stomach into the small bowel, thus classified as Rapunzel Syndrome (RS), causing mechanical obstruction of intestinal lumen and intestinal lymphatic drainage resulting in a protein-losing enteropathy (PLE). Trichobezoar was successfully removed by a surgical laparotomy resulting in resolution of symptoms and normalization of biochemical parameters. Possibly, previous surgery might have had an influence on intestinal dysmotility and trichobezoar formation. PLE is a very rare presenting symptom of RS, developing as result of intestinal obstruction caused by large trichobezoars. RS has to be considered in patients, especially adolescents, suffering from behavior disorder as trichotillomania and trichophagia. Surgical removal and nutritional supplementation are the gold treatment of large trichobezoar.
Project description:Atrophic visceral myopathy is a pathological diagnosis characterized by atrophy of the smooth muscle layers of the viscera with intact ganglia. Rarely, it can present acutely as an intestinal pseudo-obstruction. We describe a rare case report and explore how this diagnosis can be distinguished from other forms of intestinal obstruction.A 60-year-old male with a past medical history of hypothyroidism presented to the emergency department with a two-day history of worsening abdominal distention and pain associated with nausea and vomiting. Upon evaluation patient was found to have tachycardia, with abdominal distention and localized tenderness with peritonitis. Computed tomography demonstrated large bowel obstruction, likely caused by sigmoid volvulus. The patient underwent emergent laparotomy. Intra-operatively, the entire colon was found to be extremely dilated and redundant. With a working diagnosis of recurrent sigmoid volvulus causing intermittent large bowel obstruction, a sigmoid colectomy and primary anastomosis was performed. Pathology revealed atrophic visceral myopathy, with an extremely thin colonic wall and atrophic circumferential and longitudinal muscularis propria without inflammation or fibrosis. The ganglion cells and myenteric plexus were unaffected. Post-operatively, the patient developed prolonged ileus requiring nasogastric decompression and parenteral nutrition. The ileus resolved with pro-kinetic agents, and patient was discharged home on post-operative day fifteen.Atrophic visceral neuropathy is a rare cause of intestinal pseudo-obstruction. While often presenting with chronic obstruction in younger populations, we present a rare late-onset acute presentation that may have been secondary to underlying hypothyroidism.
Project description:BACKGROUND:Transomental hernias are a rare type of internal hernia. We report two cases of successful cases of laparoscopic repair. One required laparotomy due to concern for intestinal viability. CASE PRESENTATION:The first patient was a 67-year-old man who presented with abdominal pain and vomiting. He had no history of laparotomy or abdominal injury. Computed tomography suggested small bowel obstruction and possible intestinal strangulation. Emergent laparoscopy found approximately 200?cm of small bowel was strangulated around the greater omentum. The strangulation was released laparoscopically, but because of the color of the strangulated bowel, laparotomy was performed to evaluate viability. The involved portion of intestine was not resected. The patient experienced transient postoperative paralytic ileus and was discharged on postoperative day 14. The second patient was a 56-year-old man who presented with abdominal pain. Abdominal computed tomography revealed dilatation of the small intestine and a closed loop suggesting ileus due to intestinal strangulation. An emergency laparoscopy found a transomental hernia, and the strangulation was released laparoscopically. Recovery was uneventful, and the patient was discharged on postoperative day 6. CONCLUSION:Transomental hernia can be successfully treated laparoscopically. In cases where bowel viability is a concern, laparotomy should not be hesitated.
Project description:Intestinal perforation is an extremely rare complication of hemangioma of the small intestine in the neonatal period. This is a case report of a 27-days-old male infant who presented with signs and symptoms of acute intestinal obstruction. Exploratory laparotomy findings revealed intestinal perforation due to solitary hemangioma in the ileum, which led to obstruction from peritoneal reaction and adhesions. There are two reported cases in the literature presenting with ileal perforation in the pediatric age group, but only one previous report mentioned in the neonatal period. Because there are other more common causes of perforation in the neonatal period, intestinal hemangioma in spite of its rarity should be included in the differential diagnosis.
Project description:Radiation enteropathy is a common complication in cancer patients. The aim of this study was to investigate whether radiation-induced intestinal injury could be alleviated by coniferyl aldehyde (CA), an HSF1-inducing agent that increases cellular HSP70 expression. We systemically administered CA to mice with radiation enteropathy following abdominal irradiation (IR) to demonstrate the protective effects of CA against radiation-induced gastrointestinal injury. CA clearly alleviated acute radiation-induced intestinal damage, as reflected by the histopathological data and it also attenuated sub-acute enteritis. CA prevented intestinal crypt cell death and protected the microvasculature in the lamina propria during the acute and sub-acute phases of damage. CA induced HSF1 and HSP70 expression in both intestinal epithelial cells and endothelial cells in vitro. Additionally, CA protected against not only the apoptotic cell death of both endothelial and epithelial cells but also the loss of endothelial cell function following IR, indicating that CA has beneficial effects on the intestine. Our results provide novel insight into the effects of CA and suggest its role as a therapeutic candidate for radiation-induced enteropathy due to its ability to promote rapid re-proliferation of the intestinal epithelium by the synergic effects of the inhibition of cell death and the promotion of endothelial cell function.
Project description:Radiation-induced enteropathy remains a major complication after accidental or therapeutic exposure to ionizing radiation. Recent evidence suggests that intestinal microvascular damage significantly affects the development of radiation enteropathy. Mesenchymal stem cell (MSC) therapy is a promising tool to regenerate various tissues, including skin and intestine. Further, photobiomodulation (PBM), or low-level light therapy, can accelerate wound healing, especially by stimulating angiogenesis, and stem cells are particularly susceptible to PBM. Here, we explored the effect of PBM on the therapeutic potential of MSCs for the management of radiation enteropathy. In vitro, using human umbilical cord blood-derived MSCs, PBM increased proliferation and self-renewal. Intriguingly, the conditioned medium from MSCs treated with PBM attenuated irradiation-induced apoptosis and impaired tube formation in vascular endothelial cells, and these protective effects were associated with the upregulation of several angiogenic factors. In a mouse model of radiation-induced enteropathy, treatment with PBM-preconditioned MSCs alleviated mucosal destruction, improved crypt cell proliferation and epithelial barrier functions, and significantly attenuated the loss of microvascular endothelial cells in the irradiated intestinal mucosa. This treatment also significantly increased angiogenesis in the lamina propria. Together, we suggest that PBM enhances the angiogenic potential of MSCs, leading to improved therapeutic efficacy for the treatment of radiation-induced enteropathy.
Project description:Gaucher disease (OMIM #230800) is caused by ?-glucosidase deficiency and primarily involves the mononuclear phagocyte system (also called Reticuloendothelial System or Macrophage System). The disease is classified into three main phenotypes based on the presence or absence of neurological manifestations: non-neuronopathic (type 1), acute neuronopathic (type 2) and chronic neuronopathic (type 3). Typical manifestations include hepatosplenomegaly, skeletal deformities, hematological abnormalities, interstitial lung fibrosis and neurodegeneration in neuronopathic cases. Mesenteric lymphadenopathy with resultant protein losing enteropathy (PLE) has only been rarely described. Mesenteric lymphadenopathy may lead to intestinal lymphatic obstruction and secondary lymphangiectasia resulting in chronic diarrhea, abdominal pain and weight loss. Fecal protein loss with secondary hypoalbuminemia can be significant. We report a male with Chronic Neuronopathic Gaucher disease (GD) (homozygous for c.1448T > C (NM_000157.3) GBA mutation) who at 16 years of age developed intractable abdominal pain, diarrhea and weight loss. This was caused by PLE secondary to intestinal lymphangiectasia caused by calcified mesenteric lymphadenopathy despite prior long term enzyme replacement therapy (ERT) and/or substrate reduction therapy (SRT). His older similarly affected sister who had been receiving treatment with ERT and/or SRT remains stable on these treatments with no evidence of mesenteric lymphadenopathy. Medical management with total parenteral nutrition, daily medium chain triglyceride-oil (MCT) supplementation, low dose oral budesonide, continued oral SRT and an increased dose of parenteral ERT has stabilized his condition with resolution of the gastrointestinal symptoms and appropriate weight gain.
Project description:Intestinal volvulus is rare and responsible for upper bowel obstruction. They occur more frequently in a patient with abdominal surgery history. We report a case of small intestine volvulus on Meckel diverticulum, which occurred in a 21-year-old patient, with no history of laparotomy. The diagnosis confirmation was intraoperative, and the management consisted in a segmental resection of the small intestine with immediate anastomosis. The postoperative follow-up was good. This case underlines the scarcity and the severity of this presentation which therefore requires appropriate care in order to improve the prognosis.
Project description:Severe intestinal diseases observed in very young children are often the result of monogenic defects. We used whole exome sequencing (WES) to examine the genetic cause in a patient with a distinct severe form of protein losing enteropathy (PLE) characterized by hypoproteinemia, hypoalbuminemia, and hypertriglyceridemia.WES was performed at the Centre for Applied Genomics, Hospital for Sick Children, Toronto, Canada. Exome library preparation was performed using the Ion Torrent AmpliSeq RDY Exome Kit. Functional studies were carried out based on the identified mutation.Using whole exome sequencing we identified a homozygous nonsense mutation (1072C>T; p.Arg358*) in the PLVAP (plasmalemma vesicle associated protein) gene in an infant from consanguineous parents who died at five months of age of severe protein losing enteropathy. Functional studies determined that the mutated PLVAP mRNA and protein were not expressed in the patient biopsy tissues, presumably secondary to nonsense-mediated mRNA decay. Pathological analysis showed that the loss of PLVAP resulted in disruption of endothelial fenestrated diaphragms.PLVAP p.Arg358* mutation resulted in loss of PLVAP expression with subsequent deletion of the diaphragms of endothelial fenestrae leading to plasma protein extravasation, protein-losing enteropathy and ultimately death.
Project description:Infections, microbe sampling and occasional leakage of commensal microbiota and their products across the intestinal epithelial cell layer represent a permanent challenge to the intestinal immune system. The production of reactive oxygen species by NADPH oxidase is thought to be a key element of defense. Patients suffering from chronic granulomatous disease are deficient in one of the subunits of NADPH oxidase. They display a high incidence of Crohn's disease-like intestinal inflammation and are hyper-susceptible to infection with fungi and bacteria, including a 10-fold increased risk of Salmonellosis. It is not completely understood which steps of the infection process are affected by the NADPH oxidase deficiency. We employed a mouse model for Salmonella diarrhea to study how NADPH oxidase deficiency (Cybb (-/-)) affects microbe handling by the large intestinal mucosa. In this animal model, wild type S. Typhimurium causes pronounced enteropathy in wild type mice. In contrast, an avirulent S. Typhimurium mutant (S.Tm(avir); invGsseD), which lacks virulence factors boosting trans-epithelial penetration and growth in the lamina propria, cannot cause enteropathy in wild type mice. We found that Cybb (-/-) mice are efficiently infected by S.Tm(avir) and develop enteropathy by day 4 post infection. Cell depletion experiments and infections in Cybb (-/-) Myd88 (-/-) mice indicated that the S.Tm(avir)-inflicted disease in Cybb (-/-) mice hinges on CD11c(+)CX3CR1(+) monocytic phagocytes mediating colonization of the cecal lamina propria and on Myd88-dependent proinflammatory immune responses. Interestingly, in mixed bone marrow chimeras a partial reconstitution of Cybb-proficiency in the bone marrow derived compartment was sufficient to ameliorate disease severity. Our data indicate that NADPH oxidase expression is of key importance for restricting the growth of S.Tm(avir) in the mucosal lamina propria. This provides important insights into microbe handling by the large intestinal mucosa and the role of NADPH oxidase in maintaining microbe-host mutualism at this exposed body surface.