A 25-year-old patient presented with fever over a period of more than three months, night sweats, fatigue and a weight loss of more than 10 kg. A splenomegaly and an enlargement of cervical, thoracic and abdominal lymph nodes were found. The suspected malignant hematologic disorder could not be confirmed. Instead, epithelioid noncaseating granulomas in the bone marrow and a cervical lymph node as well as an elevated serum ACE and a lymphocytic alveolitis were found. These findings led us to the conclusion that the patient was suffering from sarcoidosis. Treatment with corticosteroids resulted in complete regression of all symptoms, including the splenomegaly and the enlargement of the lymph nodes. Sarcoidosis is an important consideration in differential diagnosis of fever of unknown origin, even in the absence of pathological changes on X-ray films of the chest.
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Biomedica
December 2024
Facultad de Ciencias de la Salud, Universidad ICESI, Cali, Colombia, Departamento de Pediatría, Alergología e Inmunología Pediátrica, Fundación Valle del Lili, Cali, Colombia.
Introduction. Hemophagocytic syndrome is an under-recognized condition with high mortality in the pediatric population. It is characterized by excessive activation of immune cells and cytokine release, leading to persistent inflammation.
View Article and Find Full Text PDFEndocr Metab Immune Disord Drug Targets
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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 PDFHepatol Commun
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Research and Development, Sanofi, Cambridge, Massachusetts, USA.
Background: Acid sphingomyelinase deficiency (ASMD) and Gaucher disease type 1 (GD1) are rare inherited sphingolipid disorders with multisystemic manifestations, including liver disease and dyslipidemia. Despite effective treatments, insufficient disease awareness frequently results in diagnostic delays during which irreversible complications occur. We delineated the shared and distinctive features of hepatic, splenic, and lipoprotein phenotypes in ASMD and GD1.
View Article and Find Full Text PDFBMC Pregnancy Childbirth
January 2025
Department of Clinical Genetics, Rennes University Hospital, Rennes, France.
Background: Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are uncommon during the prenatal period.
View Article and Find Full Text PDFAm J Case Rep
December 2024
I Department of Radiology and Diagnostic Imaging, Norbert Barlicki Memorial Teaching Hospital No. 1, Medical University of Łódź, Łódź, Poland.
BACKGROUND Arterioportal fistulas (APFs) are abnormal connections between the arterial and portal venous systems, leading to portal hypertension (PH) and symptoms such as gastrointestinal bleeding, splenomegaly, and hepatic pain. Symptoms typically appear by the age of 2 years in about 75% of cases. CASE REPORT A 7-year-old boy with an asymptomatic APF developed life-threatening complications following a Clostridium difficile infection.
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