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http://dx.doi.org/10.3960/jslrt.24075 | DOI Listing |
JACC Case Rep
September 2025
Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois, USA; Northwestern Feinberg School of Medicine, Chicago, Illinois, USA.
Background: Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder (CTD) with musculoskeletal, craniofacial, and cardiovascular features with a prevalence of approximately 1:50,000. Morbidity and mortality often occur earlier in patients with LDS compared to patients with other CTDs.
Case Summary: We present a teenager with subacute heart failure, 4/6 holosystolic murmur with diastolic rumble, facial differences, and arachnodactyly.
Eur J Case Rep Intern Med
August 2025
Division of Gastroenterology, Department of Medicine, Staten Island University Hospital, Northwell Health, Staten Island, USA.
Unlabelled: Pancreatic signet ring cell carcinoma (PSRCC) is a rare and aggressive subtype of pancreatic cancer with a dismal prognosis. We present the case of a 50-year-old male who, within six weeks, developed a pancreatic mass with liver metastases. Endoscopic ultrasound-guided biopsy confirmed PSRCC.
View Article and Find Full Text PDFEur J Case Rep Intern Med
August 2025
Department of Internal Medicine, Dubai Hospital, Dubai Health, Dubai, Dubai, United Arab Emirates.
Introduction: Primary central nervous system vasculitis (primary CNS vasculitis) is a rare inflammatory disorder that affects small-to-medium-sized cerebral vessels, often leading to recurrent strokes. Diagnosis is vague due to non-specific neurological symptoms. Imaging findings, cerebrospinal fluid (CSF) analysis and exclusion of systemic vasculitis are essential for diagnosis.
View Article and Find Full Text PDFEur J Case Rep Intern Med
September 2025
Respiratory Department, University Hospital Limerick, Limerick, Ireland.
Unlabelled: B-cell lymphomas are highly aggressive forms of lymphoma that commonly present with lymphadenopathy, systemic "B" symptoms, or organ involvement making them easy to recognize; however, a small percentage of B-cell lymphomas can present without any typical symptoms or evidence of lymphadenopathy, resulting in delayed recognition and management. Isolated thrombocytopenia without anaemia or leukopenia is an unusual presentation of B cell lymphomas and may be misdiagnosed as immune thrombocytopenia (ITP). Given the rarity of this presentation, we wish to report a case of a 76-year-old female who presented with palpitations, shortness of breath, and recurrent chest infections.
View Article and Find Full Text PDFEur J Case Rep Intern Med
August 2025
Department of Internal Medicine, Local Health Unit of São João, Porto, Portugal.
Unlabelled: Bariatric surgery has emerged as a highly effective treatment option for individuals with obesity. Severe hypoalbuminaemia is a feared complication after a Roux-en-Y gastric bypass. It is characterised by a low serum albumin level of <25 g/l, neither explained by renal losses, protein-losing enteropathy nor by liver disfunction, and is associated with high morbidity and mortality.
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