Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the case of a 24-year-old male patient admitted for recent ascites and splenomegaly of unknown origin. The patient was referred to our institution with complaints of diarrhea, epigastric pain, abdominal cramping and weight loss over the past three weeks. The acute onset presented with colicky abdominal pain and peritoneal effusion. History revealed reduced appetite and weight gain of 7 kg over the last one month. His past medical history and family history was negative. He had no history of alcohol abuse or viral hepatitis infection. Laboratory data revealed normal transaminases and bilirubin levels, and alkaline phosphatase and gammaglutamyltransferase were within normal range. A diagnostic laparoscopy was performed which showed free peritoneal fluid and normal abdominal viscera. Upper gastrointestinal system endoscopy performed a few days later revealed diffuse severe erythematous pangastritis and gastroduodenal gastric reflux. Duodenal biopsies showed chronic nonspecific duodenitis. Antrum and corpus biopsies showed chronic gastritis. The ascitic fluid was straw-colored and sterile with 80% eosinophils. Stool exam was negative for parasitic infection. Treatment with albendazole 400 mg twice daily for 5 days led to the disappearance of ascites and other signs and symptoms. Three months after albendazole treatment the eosinophilic cell count was normal. The final diagnosis was consistent with parasitic infection while the clinical, sonographic and histological findings suggested an eosinophilic ascites. We emphasize the importance of excluding parasitic infection in all patients with eosinophilic ascites. We chose an alternative way (albendazole treatment) to resolve this clinical picture. With our alternative way for excluding this parasitic infection, we treated the patient and then found the cause.
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PMID:An extremely uncommon case of parasitic infection presenting as eosinophilic ascites in a young patient. 2155 35

Very early onset inflammatory bowel disease (VEO-IBD) represents a diagnostic and treatment challenge. Here we present a case of VEO-IBD secondary to a mutation in BIRC4 gene, which encodes X-linked inhibitor of apoptosis protein (XIAP), in a 17-month-old boy with severe failure to thrive, intractable diarrhea, and hepatosplenomegaly. Endoscopy and histology identified only mild duodenitis and ileitis, but severe pancolitis with crypt abscesses and epithelium apoptosis. Minimal improvement in symptoms was achieved with total parenteral nutrition (TPN), intravenous (IV) corticosteroids, and tacrolimus, whereas induction and maintenance therapy with adalimumab led to complete remission. After 6 months, the patient developed hemophagocytic lymphohistiocytosis and eventually died due to multisystem organ failure. A review of the literature revealed that some patients with VEO-IBD secondary to XIAP deficiency develop symptoms that are refractory to medical and surgical management, while initial reports suggest that allogeneic hematopoietic stem cell transplantation (HSCT), with reduced intensity conditioning, can successfully induce long-lasting remission and may even be curative. We propose that in patients with XIAP deficiency a constellation of symptoms including colitis at an early age, severe failure to thrive, and splenomegaly/hepatosplenomegaly can identify a subgroup of patients at high risk of experiencing medically refractory IBD phenotype and increased mortality. Hematopoietic stem cell transplant should be considered early in these high-risk patients, as it may resolve both their intestinal inflammation and a risk of developing life threatening hemophagocytic lymphohistiocytosis .
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PMID:Risk-factors Associated With Poor Outcomes in VEO-IBD Secondary to XIAP Deficiency: A Case Report and Literature Review. 3123 87