There are limited reports on patients with Trousseau syndrome, a condition characterized by hypercoagulability associated with malignant tumors, initially manifesting with reduced visual function. We present a case of a patient who experienced bilateral vision loss and was subsequently diagnosed with Trousseau's syndrome following examination and investigations. A 70-year-old man, undergoing chemotherapy for advanced pancreatic cancer, reported decreased visual acuity in both eyes. A dilated fundus examination revealed retinal pigment epithelial atrophy in the posterior pole and cotton-wool spots. Optical coherence tomography exhibited partial disruption of the ellipsoid zone in the parafoveal region, and full-field electroretinogram results were subnormal, although the macular retinal structure was preserved. Brain magnetic resonance imaging (MRI) detected occipital lobe infarction. Elevated coagulability markers, including D-dimer (5.5μg/mL), led to the diagnosis of Trousseau's syndrome. In cases where patients with malignant tumors present with profound visual loss, considering the possibility of Trousseau's syndrome and conducting assessments of brain function and coagulability is crucial for accurate diagnosis and appropriate management.
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http://dx.doi.org/10.7759/cureus.56211 | DOI Listing |
Curr Opin Gastroenterol
January 2025
Reference Center for Inflammatory Biliary Diseases and Autoimmune Hepatitis, European Reference Network on Hepatological Diseases (ERN Rare-Liver), Saint-Antoine Hospital, Assistance Publique - Hôpitaux de Paris; Sorbonne University, INSERM, Saint-Antoine Research Center (CRSA).
Purpose Of Review: Low phospholipid-associated cholelithiasis (LPAC) syndrome is a rare genetic form of intrahepatic cholesterol lithiasis, affecting mainly young adults. This review describes the recent advances in genetic and clinical characterization, diagnosis and management of LPAC syndrome.
Recent Findings: Recent publications report data from several retrospective cohorts.
JAGN1 (Jagunal-homolog1) is a ER-resident transmembrane protein which is part of the early secretory pathway and granulocyte colony-stimulating factor receptor mediated signaling. Autosomal recessively inherited variants in the JAGN1 gene lead to congenital neutropenia, early-onset bacterial infections, aphthosis and skin abscesses due to aberrant differentiation and maturation of neutrophils. In addition, bone metabolism disorders and a syndromic phenotype, including facial features, short stature and neurodevelopmental delay, have been reported in affected patients.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
January 2025
Sorbonne Université, INSERM, Centre de Recherche Saint Antoine, APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, F-75012, Paris, France.
Rev Med Interne
December 2024
Service de médecine interne et inflammation, département inflammation-immunopathologie-biothérapie (DMU I3), CEREMAIAA, hôpital Saint-Antoine, AP-HP, Sorbonne université, Paris, France.
Hydroxychloroquine (HCQ), a synthetic antimalarial, is recognized for its immunomodulatory, anti-inflammatory and vascular-protective effects. In 20-30% of cases of primary obstetrical antiphospholipid syndrome (APS), the combination of antiplatelet aggregation and prophylactic anticoagulation fails to prevent obstetrical complications, a situation referred to as refractory obstetrical APS. This is partly due to the pro-inflammatory effects of antiphospholipid antibodies (aPL) binding to decidual and trophoblastic cells, which compromise embryonic implantation and placentation.
View Article and Find Full Text PDFAllergy
December 2024
INRAE, Micalis Institute, UMR1319, AgroParisTech, Paris Saclay University, Jouy-en-Josas, France.
Background: Food protein-induced enterocolitis syndrome (FPIES) is a non-IgE-mediated allergy without known biomarkers. We aimed to compare fecal biomarkers related to gut inflammation and immunity in children with FPIES, with resolved FPIES (tolerant), and in matched controls.
Methods: Stools were collected from FPIES children on elimination diet, before and after an oral food challenge (OFC) performed to assess their natural tolerance, at the end of a follow-up in tolerant FPIES children, and in matched controls (1:1 ratio).
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