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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Normocytic anaemia is caused either by hypoproliferation of haemopoietic tissue or increased destruction of red cell. Osteopetrosis is a rare cause of anaemia. The leading clinical features are pallor, growth failure, hepatosplenomegaly.On hematological examination, anemia, thrombocytopenia, leucocytosis and myelophthisic anemia are commonly observed in this disease. We are highlighting osteopetrosis as a rare cause of anemia presenting to us for evaluation of anemia.
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PMID:Osteopetrosis: a rare cause of anemia--review of literature. 1967 62

Acute lymphoblastic leukemia (ALL) often presents with osteoarthritic manifestations which may lead to misdiagnosis with juvenile rheumatoid arthritis (JRA). This study was designed to identify ALL patients with initial diagnosis of JRA, compare their clinicolaboratory characteristics and outcome with other ALL patients treated at our center. Case records of 762 patients with ALL were analyzed. Information regarding the clinical-demographic profile, therapy and outcome were recorded. Of the children, 49 (6.4%) had initial presentation mimicking JRA. Asymmetric oligoarthritis was the most common pattern of joint involvement. Majority presented with fever, pallor, arthritis, night pain, and bone pain. None of the routine prognostic factors including age, gender, lymphadenopathy, hepatosplenomegaly, total leukocytes count (TLC), and platelet count were significantly associated with relapse/death. The mean symptom-presentation interval (SPI), hemoglobin was significantly higher whilst the TLC was significantly lower in these patients compared to other ALL patients. The 5 year overall-survival was better than other patients with ALL (p = 0.06, by logrank test). Significantly longer SPI in these patients underscores the need for prompt and early investigations to rule out ALL in patients of JRA with atypical features and pointers of ALL. Children with ALL-mimicking JRA may belong to a subgroup of ALL with a better prognosis.
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PMID:Acute lymphoblastic leukemia masquerading as juvenile rheumatoid arthritis: diagnostic pitfall and association with survival. 2017 95

A 5-year-old girl was referred to the Department of Pediatrics and Neonatology, Guglielmo da Saliceto Hospital, Italy, because of growth retardation. Clinical and laboratory investigations showed pallor, hepatosplenomegaly, anemia and low/normal platelet count. Further investigations led to the diagnosis of Gaucher disease (GD). We believe this is the first report of growth hormone deficiency in a growth-retarded child with GD. After 1 year of imiglucerase replacement enzyme therapy, her bone age had normalized, linear growth rate had accelerated, and insulin growth factor-1 (IGF-1) and, perhaps more interestingly, growth hormone deficiency, had normalized. While the pathophysiological mechanisms underlying compromised growth in GD are poorly understood, the response to imiglucerase reported in this patient suggests that growth hormone deficiency is related to the underlying metabolic disorder in GD, rather than a primary endocrine pathology. Growth hormone deficiency adds to an already extensive list of possible clinical manifestations of this heterogeneous and complex disorder.
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PMID:Pediatric Gaucher disease type I and mild growth hormone deficiency: a new feature? 2004 31

Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated at 1 in 100,000 throughout the world and 1 in 10,000 people in the European Union. Three main forms have been described: thalassemia major, thalassemia intermedia and thalassemia minor. Individuals with thalassemia major usually present within the first two years of life with severe anemia, requiring regular red blood cell (RBC) transfusions. Findings in untreated or poorly transfused individuals with thalassemia major, as seen in some developing countries, are growth retardation, pallor, jaundice, poor musculature, hepatosplenomegaly, leg ulcers, development of masses from extramedullary hematopoiesis, and skeletal changes that result from expansion of the bone marrow. Regular transfusion therapy leads to iron overload-related complications including endocrine complication (growth retardation, failure of sexual maturation, diabetes mellitus, and insufficiency of the parathyroid, thyroid, pituitary, and less commonly, adrenal glands), dilated myocardiopathy, liver fibrosis and cirrhosis). Patients with thalassemia intermedia present later in life with moderate anemia and do not require regular transfusions. Main clinical features in these patients are hypertrophy of erythroid marrow with medullary and extramedullary hematopoiesis and its complications (osteoporosis, masses of erythropoietic tissue that primarily affect the spleen, liver, lymph nodes, chest and spine, and bone deformities and typical facial changes), gallstones, painful leg ulcers and increased predisposition to thrombosis. Thalassemia minor is clinically asymptomatic but some subjects may have moderate anemia. Beta-thalassemias are caused by point mutations or, more rarely, deletions in the beta globin gene on chromosome 11, leading to reduced (beta+) or absent (beta0) synthesis of the beta chains of hemoglobin (Hb). Transmission is autosomal recessive; however, dominant mutations have also been reported. Diagnosis of thalassemia is based on hematologic and molecular genetic testing. Differential diagnosis is usually straightforward but may include genetic sideroblastic anemias, congenital dyserythropoietic anemias, and other conditions with high levels of HbF (such as juvenile myelomonocytic leukemia and aplastic anemia). Genetic counseling is recommended and prenatal diagnosis may be offered. Treatment of thalassemia major includes regular RBC transfusions, iron chelation and management of secondary complications of iron overload. In some circumstances, spleen removal may be required. Bone marrow transplantation remains the only definitive cure currently available. Individuals with thalassemia intermedia may require splenectomy, folic acid supplementation, treatment of extramedullary erythropoietic masses and leg ulcers, prevention and therapy of thromboembolic events. Prognosis for individuals with beta-thalassemia has improved substantially in the last 20 years following recent medical advances in transfusion, iron chelation and bone marrow transplantation therapy. However, cardiac disease remains the main cause of death in patients with iron overload.
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PMID:Beta-thalassemia. 2049 8

Leishmaniasis is a zoonotic disease which may be difficult to diagnose in children. Successful results have been achieved with amphotericin B in treatment. Here, we present a 7 month old girl who lives in Istanbul. She was given a diagnosis of kala-azar and treated with liposomal amphotericin B. Our case, born in Istanbul, had had fatigue for 3 weeks and pallor and abdominal distention for 2 days. History of travel was absent. In physical examination, paleness, malaise and hepatosplenomegaly were found. In laboratory findings there was pancytopenia and her albumin level was low. A peripheric smear and other laboratory findings were normal. Her first bone marrow aspiration was normal. Because of persistent fever and increase in hepatosplenomegaly, a second bone marrow aspiration was done on the tenth day after admission and Leismania amastigotes were seen. She was given a diagnosis of kala-azar and, clinical and microbiological responses were achieved by treatment with amphotericin B. In our country, visceral leishmaniasis should be considered in all age groups who live in western regions and have no history of travel and contact, that present with pancytopenia or bicytopenia, even if massive splenomegaly is absent.
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PMID:[Case report: the efficacy of amphotericin B in visceral leishmaniasis]. 2059 48

The acquired form of pure red cell aplasia (PRCA) presents either as an acute self-limited disease, predominantly seen in children, or as a chronic illness more frequently seen in adults with rare spontaneous remissions. A 14-year-old boy presented with pallor, without hepatosplenomegaly, jaundice, lymphadenopathy, petechiae, or any other apparent abnormalities. Isolated anemia in the presence of normal white cell and platelet counts with a marrow of normal cellularity and absence of erythroblasts but normal myeloid cells and megakaryocytes revealed the diagnosis of PRCA. All possible investigations excluded secondary causes of PRCA. The patient required packed red cell transfusions every 2 to 3 weeks. He failed therapy with intravenous immunoglobulin, corticosteroids, cyclosporine A plus corticosteroids, antithymocyte globulin, anti-CD 20 (rituximab), and erythropoietin (EPO). He showed a severe, resistant, and transfusion-dependent PRCA. Spontaneous remission with normal hemoglobin and reticulocyte levels was dramatic 6.5 years after the diagnosis of PRCA and 3.6 years after his last treatment.
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PMID:Delayed spontaneous remission in a child with primary acquired chronic pure red cell aplasia. 2061 70

The authors describe 10 cases of myelofibrosis diagnosed and managed at their center over 16 years. There were 2 and 8 cases, respectively, of primary and secondary myelofibrosis. All patients presented with fever, pallor, hepatosplenomegaly, and/or lymphadenopathy. Hodgkin's lymphoma (n = 4), neuroblastoma (n = 1), thrombasthenic thrombopathy (n = 1), and retroperitoneal-mass (n = 1) were causal in 7 patients, whereas the diagnosis could not be established in a sole case of secondary myelofibrosis. Patients were managed with chemotherapy and appropriate care. However, outcome was poor. The authors emphasize variable clinical-laboratory spectrum of myelofibrosis, highlight management concerns, and demonstrate that prognosis/outcome depends upon appropriate management of the underlying condition.
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PMID:Myelofibrosis in children: experience at a single tertiary care center in India. 2067 Jan 65

Bilateral optic neuritis is an extremely uncommon complication of pediatric systemic lupus erythematosus and sporadic cases are reported in the literature. The authors describe an 11-yr-old girl who presented with fever and progressively increasing pallor for 4 months, headache for 7 days, severe anemia and hepatosplenomegaly. Soon after admission, she developed rapid deterioration of vision, worsening to no perception of light with afferent pupillary defect. Fundoscopy showed bilateral optic neuritis. Investigations revealed autoimmune hemolytic anemia and thrombocytopenia. Anti-dsDNA and anti-phospholipid antibodies were positive. Magnetic resonance venography showed multiple thrombi in the cerebral venous sinuses, for which anticoagulant therapy was initiated. She was managed with intravenous methylprednisolone followed by cyclophosphamide pulse therapy for 6 months along with oral prednisolone. Though she went into remission, visual outcome has been dismal, with development of bilateral optic atrophy, and absence of perception of light.
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PMID:Bilateral optic neuritis in pediatric systemic lupus erythematosus with antiphospholipid antibody syndrome. 2088 28

We present a case of a 30-year-old woman with learning difficulties who was found dead at home by her mother. Her body was partially naked and covered in a number of unusual skin lesions with a targetoid appearance with red erythematous centers and well-delineated halos of pallor. These lesions were initially thought to be bruises by the police and by a forensic postmortem instigated. Postmortem examination also identified hepatosplenomegaly, severe lymphadenopathy, and focal patchy colonic ulceration. Histologic examination of the skin and bowel ulcers showed the lesions to be areas of infarction caused by Pseudomonas aeruginosa vasculitis. Pseudomonas was also cultured from the swabs of the abdomen, the spleen, and the blood cultures. Histologic findings of the lymph nodes showed complete effacement of the normal architecture by a population of pleomorphic small lymphoid cells. Immunohistochemistry confirmed the predominant cell type to be T-cells. The diagnosis of peripheral T-cell lymphoma was made. The cause of death was given as Pseudomonas septicemia secondary to immunocompromise resulting from the undiagnosed peripheral T-cell lymphoma. The pathogenesis of Pseudomonas and its association with malignancy is discussed along with a brief review of peripheral T-cell lymphomas. This case report demonstrates the characteristic macroscopic appearance of cutaneous Pseudomonas-associated lesions and how they can be misinterpreted as bruises.
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PMID:Unusual skin lesions mimicking bruises caused by Pseudomonas septicemia secondary to undiagnosed peripheral T-cell lymphoma in a young woman. 2103 Aug 48

Leishmania infantum is endemic in the Maltese archipelago, a group of islands in the Mediterranean which are visited frequently by tourists from Northern European countries. The burden of leishmaniasis is highest in children who may present with cutaneous or visceral manifestations. We describe systematically the manifestations, diagnosis and management of leishmaniasis in children <14 years of age, who had a histopathological diagnosis of leishmaniasis in Malta, from 2004 to 2008. Eleven children were diagnosed with leishmaniasis; 8 children (15-44 months of age) had visceral disease and three (aged 9-13 years) suffered cutaneous infections. Prolonged high grade fever, pallor, hepatosplenomegaly, and pancytopenia were common presenting features of visceralisation. Diagnosis was based on the visualisation of amastigotes from bone marrow aspirates. Pentavalent antimonials were associated with treatment failure in two children, whilst liposomal amphotericin B was curative in all. Children with cutaneous leishmaniasis had dry crusted ulcero-nodular lesions on exposed areas which responded to intra-lesional instillation of sodium stibogluconate or to cryotherapy. Leishmaniasis should be included in the differential diagnosis of fever and hepatosplenomegaly or chronic cutaneous lesions in children who travel to Malta.
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PMID:Manifestations of paediatric Leishmania infantum infections in Malta. 2121 24


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