Search results for "Hepatosplenomegaly"
showing 8 items of 28 documents
N-Acetylneuraminic acid storage disease
1985
Increased amounts of free sialic acid were found in body fluids, leukocytes, cultured fibroblasts, and liver tissue of a four-year-old boy with mental retardation, ataxia, and clinical and radiologic findings of a mild mucopolysaccharidosis. A diagnosis of Salla disease was made though in contrast to earlier reports, recurrent upper respiratory infections and hepatosplenomegaly were present already in infancy, and skeletal abnormalities of dysostosis multiplex were found in early childhood. Free sialic acid in the urine was identified as N-acetylneuraminic acid by 1H-NMR spectroscopy. Sialidase activities were normal. Increased amounts of bound sialic acid were found in liver and cultured f…
Clinical use of polymerase chain reaction performed on peripheral blood and bone marrow samples for the diagnosis and monitoring of visceral leishman…
2007
Background To overcome some of the limitations of conventional microbiologic techniques, polymerase chain reaction (PCR)-based assays are proposed as useful tools for the diagnosis of visceral leishmaniasis. Patients and methods A comparative study using conventional microbiologic techniques (i.e., serologic testing, microscopic examination, and culture) and a Leishmania species-specific PCR assay, using peripheral blood and bone marrow aspirate samples as templates, was conducted during an 8-year period. The study cohort consisted of 594 Italian immunocompetent (adult and pediatric) and immunocompromised (adult) patients experiencing febrile syndromes associated with hematologic alteration…
Hemophagocytic syndrome in a patient with disseminated tuberculosis: a case report
2018
Hemophagocytic syndrome (HS) is a rare disorder of the immune system. It is characterized by fever, lymphadenopathy, hepatosplenomegaly, cytopenia and hyperferritinemia. The cause differs in each country suggesting a specific genetic background and epidemiology of infections, and it can be associated with malignant diseases. A rare cause of HS is tuberculosis (TB), we describe a case of HS associated with disseminated Mycobacterium tuberculosis (MT) infection in a patient from Sudan. He presented diarrhea, fever, pancytopenia, thickened and dilated bowel loops and lymph nodes enlargement at ultrasound and computed tomography scan. A bone marrow biopsy performed to rule out a lymphoma reveal…
Primary cutaneous plasmacytosis in a child. Is this a new entity?
2002
Plasma cell proliferations represent a heterogeneous spectrum of disorders. A 7-year-old Caucasian female had suffered an asymptomatic eruption on the trunk for 4 years. Physical examination revealed a plaque with scattered red-brown papules and nodules. Chemical analysis revealed normal proteinaemia. Histological examination of biopsy specimens showed dense perivascular and periadnexal infiltrate, consisting largely of plasma cells, in the superficial and deep dermis. Immunohistochemical study showed that many cells of the infiltrate were CD20 positive. The plasma cells expressed kappa and lambda light chains. The girl's status (age; absence of hypergammaglobulinaemia, lymphadenopathy and …
Systematic review: macrophage activation syndrome in inflammatory bowel disease.
2013
Summary Background Recently, there have been increasingly frequent reports on the occurrence of macrophage activation syndrome (MAS) in patients with inflammatory bowel disease (IBD). Clinically, MAS is characterized mainly by fever, hepatosplenomegaly, cytopenia, and elevated circulating ferritin and CD25. Mortality, even if diagnosed rapidly, is high. Aim To identify all reports on MAS in IBD and to establish data on triggering agents, immunosuppression leading to MAS, and mortality. Methods A language unrestricted search on Pubmed and Scopus relating to the past 30 years was carried out by matching the following search-terms: h(a)emophagocytic lymphohistiocytosis OR h(a)emophagocytic lym…
Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A…
2006
Laboratory diagnosis of lysosomal storage disorders, especially sphingomyelinase deficiency (Niemann–Pick disease type A/B) and Niemann–Pick disease type C (NPC) can be challenging. We therefore aimed to analyse the feasibility of first-step screening with specific chitotriosidase cut-off values in children ≤ 10 years of age with visceral organomegaly (hepatomegaly, splenomegaly, or hepatosplenomegaly) in whom a storage disorder was suspected. We conducted a retrospective, cross-sectional, referral, single-centre study to assess diagnostic test properties in 106 individuals. Median chitotriosidase activity was 12 655 nmol/h per ml (interquartile range 4693–20982) in Gaucher disease (GD); 78…
Clinical and ultrastructural findings in three patients with geleophysic dysplasia
1996
Geleophysic dysplasia, a rare disorder with autosomal-recessive inheritance, is characterized by short stature with a “happy-looking” facial appearance. Nonskeletal findings, particularly in an advanced stage, include hepatosplenomegaly and valvular cardiopathy. Based on the clinical picture and the detection of lysosome-like inclusions in hepatocytes, the underlying cause of the condition is considered to be a storage defect in the metabolism of glycoproteins. The clinical course, with progressive worsening of the condition favors this hypothesis. We report on 3 further cases, in which light and electron microscopic studies of iliac crest biopsies and cultured skin fibroblasts provided add…
Reversible Myelofibrose bei angioimmunoblastischer Lymphadenopathie
2008
Ankle oedema and abdominal swelling suddenly developed in a 55-year-old woman who also had lymphadenopathy in the neck, axillae and groin. Ultrasonography demonstrated hepatosplenomegaly, ascites and pleural effusions. Histological examination of some lymph-nodes from the axilla and groin revealed angioimmunoblastic lymphadenopathy (low-malignant peripheral T cell lymphoma). Bone-marrow biopsy was undertaken because of a normocytic anaemia (haemoglobin 4.9 g/dl) requiring blood transfusion, thrombocytopenia (5000/microliters) and monoclonal IgG gammopathy. This showed lymphoma-associated secondary myelofibrosis. Treatment with prednisone (2 mg/kg daily for 8 weeks) and vincristine (1 mg/m2 …