Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Localized plasma cell type Castleman's disease (CD) is an unusual pathologic entity. It is frequently associated with clinical and laboratory characteristics and rarely occurs in children. Total surgical excision results in cure in all aspects. To make early diagnosis of mesenteric CD is not easy, especially for children. An 11-year-old Taiwanese boy was recently evaluated for anemia and delayed growth. His clinical findings included a syndrome of severe hypochromic microcytic anemia, neutropenia, thrombocytosis, hypoferremia, hypergammaglobulinemia, and growth failure. Radiological examinations (abdominal ultrasound, small intestinal series, and computerized tomography) identified hepatosplenomegaly, nephromegaly, and huge masses in the middle abdomen with precaval, celiac, and paraaortic lymph nodal enlargement. However, detailed physical examination failed to detect a mass. At laparotomy a double-fist-sized confluent mass was found arising from the mesenteric root. Most masses were discrete and were excised individually. The pathologic diagnosis was plasma-cell type angiofollicular lymph node hyperplasia (Castleman's disease). Seven weeks after surgery, he had an episode of acute hepatitis B. Postoperatively, he exhibited a dramatic growth spurt; the hemoglobin, red blood cell indices, serum iron, and immunoglobulins returned to normal in 2 months. Neutropenia, which has not been previously related to mesenteric CD, was an unexpected finding in our case; however, it resolved spontaneously 3 months after the surgery, suggesting its causal relationship with the tumor.
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PMID:New observations in a child with angiofollicular lymph node hyperplasia (Castleman's disease) originated from the mesenteric root. 151 Jan 96

A case is presented with early-onset polyarthritis involving both large and small joints, prolonged fever, skin rash, hepatosplenomegaly, persistent cerebro-spinal fluid pleocytosis, brain atrophy, macrocephaly with ventricular dilatation, a persistently open fontanelle, lymphadenopathy, subcutaneous nodules, developmental delay, failure to thrive, persistent hypochromic microcytic anemia, leukocytosis with shift to the left, early thrombocytopenia followed by thrombocytosis, high erythrocyte sedimentation rate, elevated immunoglobulin level, and vasculitis involving several organs. Thirteen cases have been previously reported under different names. A unified name is needed; we suggest "infantile-onset arthritis and multisystem inflammatory disease."
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PMID:Infantile-onset arthritis and multisystem inflammatory disease: "a new syndrome". 355 12

The paper summarizes the results of clinical examinations of imported malaria in 48 patients, semi-immune foreigners infected with P. falciparum and P. vivax/P. ovale. Of the objective manifestations, hepatosplenomegaly was predominant in P. falciparum infections (34%), whereas in P. vivax infections its occurrence rate was 19%. Body temperature over 38 degrees C with shivering had a higher frequency in P. vivax (81%) compared to P. falciparum (41%) infections. Pathologically altered hematologic values, particularly mild to medium increase in sedimentation rate, were found in all patients with P. vivax/P. ovale, while in patients infected with P. falciparum only in those whose parasitemia exceeded 10,000 trophozoites in 1 microliter blood. Reduced values of hemoglobin, hematocrit, and mean erythrocyte volume are indicative of microcytic anemia of mild degree. Biochemical examinations yielded slightly increased values of the thymol turbidity test and mild reduction of serum proteins at simultaneous increase of albumins (8% of the patients examined). Of the parameters of humoral immunity, there was a rise in immunoglobulin values concerning particularly IgG and IgM, and that in all types of malarial infection studied. Increased values of circulating immunocomplexes had a high frequency rate with all plasmodial species, in P. falciparum infections independently of the degree of parasitemia. (Tab. 7, Ref. 13.)
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PMID:[The clinical picture of imported malaria and its relation to P. falciparum parasitemia]. 835 68

The relative excess of alpha- over beta-globin chains in the erythroid precursors is the chief pathophysiological factor of homozygous beta-thalassemia. The clinical picture is usually characterized by a transfusion-dependent dyserythropoietic anemia (thalassemia major). However, some patients present with moderate anemia that does not require regular blood transfusions (thalassemia intermedia). The molecular heterogeneity of beta-thalassemia mutations and changes of alpha- and gamma-globin gene expression play an important role in modifying the clinical phenotype. We report here on a female Greek patient with homozygous beta-thalassemia but normal growth and development, excellent exercise tolerance, and no need of blood transfusions. She is thus mildly affected clinically, although there is marked pallor, jaundice, and hepatosplenomegaly. These signs correspond to her marked hypochromic, microcytic anemia with erythroid hyperplasia of the bone marrow. beta-Globin genotyping shows here to be compound heterozygous for the codon 39 C-->T beta zero-nonsense mutation and for the T-->C beta(+)-mutation at position 6 of the splice consensus at the exon 1/intron 1 junction (CD39 C-->T/IVS1-6 T-->C). alpha-Globin gene mapping demonstrates the presence of a 3.7-kb alpha (+)-thalassemia deletion on one allele (-alpha 3.7/alpha alpha). Taken together, this study identifies a complex interaction of genetic factors that do not significantly alter the clinical phenotype when present alone but ameliorate the course of homozygous beta-thalassemia when inherited in combination.
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PMID:Thalassemia intermedia: compound heterozygous beta zero/beta(+)-thalassemia and co-inherited heterozygous alpha(+)-thalassemia. 843 22

Tropical pulmonary eosinophilia (TPE) is considered to be a variant of human filarial infection. The pulmonary manifestations of TPE have been well described. Extra-pulmonary features of the disease, although not commonly seen, have been reported previously. A 9-year-old Malay girl with a history of recurrent cough and wheezing was admitted because of cardiac failure. Physical examination revealed a very sick girl with tachypnoea, central cyanosis, finger clubbing, elevated jugular venous pulse, generalized crackles and rhonchi in the chest, a loud second heart sound and hepatosplenomegaly. A chest radiograph showed cardiomegaly and right pleural effusion. Laboratory investigations revealed hypochromic, microcytic anaemia with persistent blood eosinophilia (absolute eosinophil counts varied from 1.9 to 5.5 x 10(9)/1). The ELISA test for antifilarial IgG antibodies was strongly positive. She responded promptly to treatment with diethylcarbamazine. In summary, this is a patient with TPE who presented with cor pulmonale, probably due to late-stage interstitial pulmonary fibrosis. In order to prevent the long term morbidity of cardiorespiratory disability, the early signs of TPE should be recognized and the infection treated.
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PMID:Cor pulmonale: an unusual presentation of tropical eosinophilia. 917 82

A 47 year old patient was admitted because of 20 kg weight loss and microcytic anaemia. There wasn't any important disease in his medical history. During examinations it has been found microcytic anaemia, hypoproteinaemia, low serum potassium, elevated prothrombin INR value, malabsorption and mild hepatosplenomegaly. After precluding the possibility of malignant disorders and any other chronic diseases, examinations have cleared Whipple-disease.
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PMID:[An unusual case of morbid weight loss]. 957 3

Sickle-beta(+) (beta(+)) thalassemia is a double heterozygous genetic disorder characterized by both a qualitative and quantitative abnormality. We present a case of an African American male who was first diagnosed with sickle cell disease (SCD) at the age 23 years when he presented with generalized bone pain, fever, and hepatosplenomegaly. Laboratory findings included thrombocytopenia, microcytic anemia, and markedly elevated ferritin. He was subsequently diagnosed with a sickle-beta thalassemia hemoglobinopathy. Findings in the bone marrow aspirate and biopsy were consistent with hemophagocytic lymphohistiocytosis (HLH). HLH resolved with the resolution of sickle cell bone pain crisis without use of immunosuppressive therapy. To the best of our knowledge this is the first documented case of HLH associated with sickle cell bone pain crisis.
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PMID:Sickle cell crisis associated with hemophagocytic lymphohistiocytosis. 1549 57

We report on a Thai female patient who presented with hypochromic microcytic anemia, hepatosplenomegaly, and failure to thrive since 3 years of age. Hematological and hemoglobin (Hb) analysis were consistent with a clinical diagnosis of Hb H disease. However, no abnormal Hb fraction had ever been detected. During the 20 years of follow-up, this patient experienced several episodes of hemolytic crisis, which worsened her anemia, necessitating blood transfusion. Recently, we identified Hb Quong Sze (Hb QS), a highly unstable globin gene mutation affecting codon 125 (CTG-->CCG) of alpha(2) globin gene in trans with the commonest alpha(0) thalassemia (-(SEA)) in the patient. This report highlights the clinical significance of Hb QS in Southeast Asians, as previously almost all of the patients described with this variant were of Chinese origin.
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PMID:Hemoglobin H disease induced by the common SEA deletion and the rare hemoglobin Quong Sze in a Thai female: longitudinal clinical course, molecular characterization, and development of a PCR/RFLP-based detection method. 1750 46

The thalassemias are inherited disorders resulting from deficient synthesis of one or more polypeptide chains of normal haemoglobin. There are two main groups of thalassemia: alpha and more common beta. The carriage of thalassemia genes are widely spread and the disease is considered the most common genetic disorder worldwide. Thalassemias are particularly prevalent in inhabitants of Italy, Greece, Spain, Mediterranean Islands, West Africa and some parts of Asia. The most common thalassemia beta cases are characterized from asymptomatic to severe microcytic anaemia with hepatosplenomegaly and physical development disturbances. The authors present eight unrelated children from the Pomerania Region of Poland complaining of chronic microcytic anaemia with normal iron level. Elevated level of haemoglobin A2 and in some of them haemoglobin F revealed thalassemia beta.
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PMID:[Thalassemia beta in children from Pomerania Region]. 1796 68

Fever of unclear origin is a clinical challenge in medical practice. Infectious diseases, neoplasms, and collagen vascular illnesses are its main causes in adults and children. Acute splenic sequestration crises, a known potentially fatal complication of sickle cell disease and sickle beta-thalassemia, are uncommon in beta-heterozygosis. We describe a case of prolonged recurrent episodes of fever with spontaneous resolution, commencing at age 10 in a 15-year-old boy with a history of hypochromic microcytic anemia attributed to a thalassemic trait. He was admitted twice to our university hospital for continuous-remittent fever with a pruritic, macular evanescent Still's skin rash, severe splenomegaly, leucopenia, thrombocytopenia, and sudden aggravation of anemia. Infectious, rheumatologic, autoimmune, and hematologic illnesses were excluded. A genetic-based study revealed heterozygosis of the beta-globin gene for a A>C (Thr>Pro) substitution at position 87 called Hemoglobin Valletta (alpha 2 beta 2 87 PRO) with a C>G transition in homozygosis in beta-globin intronic polymorphism intervening sequence 2 at nucleotide 745. After a follow-up period of 1 year without treatment, the young patient remains apyretic and in good general clinical health with persistent microcythemia and hepatosplenomegaly. Acute splenic sequestration crisis and related cytopenia may be an unusual complication of fever of unclear origin in a beta-thalassemic carrier of a Hemoglobin Valletta mutation and polymorphism in homozygosis of intervening sequence 2 at nucleotide 745. This hemoglobinopathy may predispose to a clinical phenotype of minor or intermediate thalassemia and, during a febrile illness, to hemoglobin instability and splenic sequestration.
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PMID:Fever of unclear origin and cytopenia because of acute splenic sequestration in a young immunocompetent carrier of beta-globin mutation for Hb Valletta. 1909 26


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