Primary (AL) Amyloidosis Following COVID-19 Infection: A Case Report. [PDF]
Clin Case RepABSTRACT Primary (AL) amyloidosis is a rare systemic disorder caused by extracellular deposition of monoclonal immunoglobulin light chains, resulting in multi‐organ dysfunction. SARS‐CoV‐2 infection may induce persistent inflammatory and immune dysregulation, potentially promoting amyloid formation, although clinical evidence is limited, making the ...
Gholami N +4 more
europepmc +2 more sources
Gaucher Disease and Myelofibrosis: A Combined Disease or a Misdiagnosis? [PDF]
, 2018 Background: Gaucher disease (GD) and primary myelofibrosis (PMF) share similar clinical and laboratory features, such as cytopenia, hepatosplenomegaly, and marrow fibrosis, often resulting in a misdiagnosis.
Cardarelli, L +5 more
core +1 more source
Thalassaemia Trait with Gaucher Disease: A Diagnostic Dilemma [PDF]
Journal of Clinical and Diagnostic Research, 2017 Gaucher Disease is an autosomal recessive disease caused by the accumulation of glucocerebrosidase due to deficiency in lysosomal glucocerebrosidase. Thalassaemia trait is asymptomatic and is usually an incidental diagnosis.
Jyoti Ramnath Kini +4 more
doaj +1 more source
Human Cytomegalovirus: detection of congenital and perinatal infection in Argentina [PDF]
, 2004 BACKGROUND: Human cytomegalovirus (CMV) is one of the most commonly found agents of congenital infections. Primary maternal infection is associated with risk of symptomatic congenital diseases, and high morbidity is frequently associated with very low ...
Alicia Alonso +25 more
core +3 more sources
Niemann-Pick disease type B. Study of 3 cases and literature revision
Acta Pediátrica de México, 2014 Objective: To describe the course of type B Niemann-Pick disease (ENP-B) by following the evolution of three pediatric patients. Methods: Three patients, two of them male, age between two and eleven years, with type B Niemann-Pick disease were evaluated ...
Jorge Zarco-Román +4 more
doaj +1 more source
A hemophagocytic lymphohistiocytosis case with newly defined UNC13D (C.175G>C; p.Ala59Pro) mutation and a rare complication [PDF]
, 2015 Hemophagocytic lymphohistiocytosis (HLH) represents a severe hyperinflammatory condition with cardinal symptoms of prolonged fever, cytopenias, hepatosplenomegaly, and hemophagocytosis by activated, morphologically benign macrophages with impaired ...
Akpınar, Funda Özgürler +7 more
core +2 more sources
Intravascular Large B-Cell Lymphoma Presenting as Dementia and Hemolytic Anemia [PDF]
, 2010 Background: Intravascular lymphoma (IVL) is an uncommon disease characterized by atypical lymphoid cells growing inside the lumina of small vessels. The diversity of clinical presentation due to possible involvement of multiple organs often complicates ...
Ahle, Guido +6 more
core +1 more source
Isolated abdominal sarcoidosis presenting with hypercalcemic crisis: A rare case
MAMC Journal of Medical Sciences, 2015 Sarcoidosis is a granulomatous disease of unknown origin, with pulmonary findings in more than 90% of patients. Extrapulmonary involvement is common and all organs can be involved (especially lymph nodes, eyes, joints, and central nervous system) but it ...
Nidhi Anand +3 more
doaj +1 more source
An unusual unifocal presentation of Castleman’s disease in a young woman with a detailed description of sonographic findings to reduce diagnostic uncertainty: a case report [PDF]
, 2013 Background: Castleman’s disease is a rare lymphoproliferative disorder. It typically presents as mediastinal masses and causes a wide range of clinical symptoms.
Maden, Zerrin, Wagner, Norbert
core +1 more source
Sarcoidosis in a Toddler: A Rare Presentation [PDF]
Pediatric Sciences Journal, 2022 Sarcoidosis is rare multi-system granulomatous inflammatory disorder. It is reported to present by two distinct presentations in childhood.
Magd A. Kotb +5 more
doaj +1 more source