Sarcoidosis is a chronic granulomatous disease with multisystemic involvement with unspecified aetiology. Pancreatic involvement is a rare manifestation of systemic sarcoidosis and is often detected in postmortem studies. This clearly implies the rarity of the disease and its diagnostic challenges. Despite having various biochemical markers and imaging techniques, the only definitive method of diagnosis is the histological examination of the lesion. We present a patient with abdominal pain associated with obstructive jaundice, where imaging demonstrated features of pulmonary sarcoidosis along with a pancreatic head mass. Endoscopic ultrasound-guided biopsy demonstrated pancreatic non-caseating granulomas suggestive of sarcoidosis. Subsequently, the patient underwent biliary stenting and was started on glucocorticoid therapy.
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http://dx.doi.org/10.7759/cureus.75782 | DOI Listing |
Orphanet J Rare Dis
January 2025
Department of Pediatrics, Guangdong Provincial People's Hospital, The Second School of Clinical Medicine, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, 510080, China.
Background: Hepatic glycogen storage diseases (GSD) are inborn errors of metabolism with abnormal storage or utilization of glycogen, a complex disease with significant genetic heterogeneity and similar clinical manifestations. This study aimed to describe the gastrointestinal symptoms and endoscopic features of hepatic GSD, including types Ia, Ib, III, VI, and IX, to provide evidence for etiology and treatment.
Methods: A national cohort survey questionnaire was distributed to patients diagnosed with GSD type Ia, Ib, III, VI, and IX through genetic testing or their parents in mainland China in May 2022.
CNS Drugs
January 2025
Faculty of Environmental and Life Sciences, Centre for Innovation in Mental Health, School of Psychology, University of Southampton, Southampton, UK.
Background: Raynaud syndrome (RS) is a peripheral vasculopathy characterised be impaired acral perfusion typically manifesting as skin discolouration with pallor, cyanosis and/or erythema, and increased sensitivity to cold. RS may be primary or secondary to systemic disease, lifestyle and environmental factors or medication. RS has been reported with medication to treat ADHD, but we found no recent comprehensive overview of the literature.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Surgical Oncology, Guthrie Robert Packer Hospital, Sayre, Pennsylvania, USA.
A splenic inflammatory pseudotumour (IPT) is a rare condition in which inflammatory cells and non-cancerous specialised cells known as myofibroblasts abnormally replicate in the spleen. Patients with IPT may experience symptoms like abdominal pain, fever and weight loss, making it difficult to distinguish from processes like cancer. As a result, diagnosing IPT often requires imaging studies and microscopic examination.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Internal Medicine, RG Kar Medical College and Hospital, Kolkata, West Bengal, India.
Hoffmann syndrome, a rare manifestation of hypothyroid myopathy in adults, is characterised by muscle weakness, stiffness and pseudohypertrophy. Here, we report the case of a middle-aged man who presented with progressive weakness in proximal muscles (in the form of difficulty in climbing stairs, rising from a seated position, combing hair and lifting objects) and leg swelling for 6 months. Physical examination revealed pseudohypertrophy of calf muscles with pronounced symmetric weakness in proximal upper and lower limbs.
View Article and Find Full Text PDFSteroids
January 2025
Department of Endocrinology, Sir Run Run Hospital, Nanjing Medical University, Nanjing, Jiangsu, China. Electronic address:
Background: 17α-Hydroxylase/17,20-lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH), caused by mutations in the CYP17A1 gene. It typically manifests clinically as variable degree of hypertension, hypokalemia, and disorders of sexual development (DSD), which can include abnormal sexual differentiation in males and sexual infantilism in females. Over 100 mutations in CYP17A1 have been identified, with most cases involving missense mutations or small deletions.
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