Cytomegalovirus infection of the gastro-intestinal tract is frequent and may be serious in the immunocompromised patient. We report a case of cytomegalovirus infection in an immunocompetent young man who presented total food intolerance, pleural effusion and oedema as the result of severe protein losing hypertrophic gastropathy. Hypertrophic gastropathy with severe mucosal protein loss has been described in Menetrier's disease, a condition of unknown cause which involves foveolar hyperplasia of the gastric mucosa. Related hypoalbuminemia is responsible for a clinical picture of diffuse edema. In adults, the natural course of the disease is marked by a chronic course and carries a bad prognosis. In our case, the disease ran a protracted disabling course, likely shortened by ganciclovir therapy, followed by slow clinical, endoscopic and biochemical resolution after several' months course.
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Pediatr Rheumatol Online J
January 2025
Laboratory of Autoimmunity and Inflammation, Center for Clinical, Biomedical Research Foundation, Experimental Surgery and Translational Research, Academy of Athens, Athens, Greece.
Background: Type I interferonopathies including Aicardi-Goutiéres Syndrome (AGS) represent a heterogeneous group of clinical phenotypes. Herein, we present a Case with combined AGS and Cornelia de Lange Syndrome (CdLS)-a cohesinopathy-with comprehensive analysis of the immune and genomic abnormalities.
Case And Methods: A 20-year old man presented with chilblain lesions and resorption of distal phalanges of fingers and toes, somatic and psychomotor retardation, microcephaly, synophrys, hearing losing and other aberrancies consistent with the phenotype of CdLS.
Proc Natl Acad Sci U S A
February 2025
Department of Computer Science, University of Manchester, Manchester M13 9PL, United Kingdom.
The preference for simple explanations, known as the parsimony principle, has long guided the development of scientific theories, hypotheses, and models. Yet recent years have seen a number of successes in employing highly complex models for scientific inquiry (e.g.
View Article and Find Full Text PDFCardiol Young
January 2025
Adult Congenital Heart Centre and National Centre for Pulmonary Hypertension, Royal Brompton and Harefield Hospitals, Guy's and St Thomas's NHS Foundation Trust, Imperial College, London, UK.
We present the case of a 31-year-old female with Fontan circulation who developed signs of protein-losing enteropathy 10 days after second COVID-19 vaccination. After standard investigations for identification of potential triggers for protein-losing enteropathy, we concluded that coronavirus disease 2019 (COVID-19) booster vaccination could have been the most probable underlying trigger. Prompt investigation of new symptoms post-vaccination in high-risk patients is necessary.
View Article and Find Full Text PDFJ Int Med Res
January 2025
Division of Gastroenterology and Hepatology, Department of Internal Medicine, Yeungnam University College of Medicine, Daegu, Republic of Korea.
Cytomegalovirus (CMV) infection typically affects immunocompromised individuals. However, CMV-associated enteritis involving the entire small intestine is rare in immunocompetent patients. We report a case of a 60-year-old immunocompetent woman with a history of diabetes mellitus who presented with diarrhea for 3 weeks.
View Article and Find Full Text PDFPrimary intestinal lymphangiectasia (PIL) is a rare protein-losing gastroenteropathy characterized by diffuse or localized ectasia of the enteric lymphatics, which can be accompanied by lymphatic abnormalities in other parts of the body. This condition results in hypoalbuminemia, hypogammaglobulinemia, and lymphopenia due to the abnormal leakage of lymphatic fluid into the gastrointestinal tract. As there are no specific serological or radiological tests available, the gold standard for diagnosing intestinal lymphangiectasia is endoscopic examination with histopathological examination of intestinal biopsy specimens.
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