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Rare of Gaucher's Disease Complication of Splenic Multiple Gaucheroma.
Endocr Metab Immune Disord Drug Targets
January 2025
Department of Endocrinology and Metabolic Diseases, Erciyes University Faculty of Medicine, Kayseri, Turkey.
Background: Gaucheromas, pseudotumors composed of Gaucher cells, are rare complications of Gaucher's Disease (GD). They are usually seen in patients receiving enzyme replacement. Surgery is generally not recommended for these benign masses in treatment management.
View Article and Find Full Text PDFRetroperitoneal Teratoma in a Newborn: A Case Report and Diagnostic Insights.
Cureus
December 2024
Department of Pediatrics, Division of Neonatology, Blythedale Children's Hospital, Valhalla, USA.
Retroperitoneal teratomas are rare neoplasms in neonates, presenting with nonspecific symptoms and variable clinical features, making diagnosis challenging. Radiological investigations, particularly fetal ultrasound and contrast-enhanced computed tomography, play a critical role in their detection. Differential diagnoses include neuroblastoma, adrenal hemorrhage, and congenital cystic lesions, which share overlapping clinical and imaging features.
View Article and Find Full Text PDFPrimary ovarian peripheral primitive neuroectodermal tumor presented with breast metastasis; Case report.
Rare Tumors
January 2025
Internal Medicine Department, An Najah National University Hospital, Nablus, Palestine.
Ewing sarcoma family tumors (ESFT) pose diagnostic challenges, which largely depend on the primary site of involvement and tumor stage. Despite advancements in treatment, metastatic ESFTs remain associated with poor outcomes. This case describes a 21-year-old woman who, in July 2022, presented with a left breast mass identified through ultrasound and CT scan, along with abdominal distention.
View Article and Find Full Text PDFBudd-Chiari Syndrome as an Initial Manifestation of Incomplete Systemic Lupus Erythematosus.
Eur J Case Rep Intern Med
December 2024
Department of Internal Medicine, Ospedale Regionale di Lugano EOC, Lugano, Switzerland.
Unlabelled: This article describes a case of a 26-year-old female with a history of Evan's syndrome who presented with severe exertional dyspnoea and abdominal discomfort. The patient was diagnosed with chronic Budd-Chiari syndrome, a rare vascular disorder characterized by obstruction of the hepatic vein. We discuss the risk factors, the clinical manifestations, and diagnostic methods for Budd-Chiari syndrome, as well as the possible association with an underlying incomplete systemic lupus erythematosus.
View Article and Find Full Text PDFBackground: Traumatic arteriovenous fistulas (AVFs) are rare entities, especially when referring to visceral arterioportal AVFs. Currently, there are no large epidemiological studies looking specifically at traumatic visceral AVFs. When traumatic AVFs have been discussed in the literature, it is in the form of case reports or case series and focused on peripheral AVFs.
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