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)

Myeloproliferative disease of childhood is frequently associated with chromosomal anomalies, usually of the C group. Clinical features are similar to those of the juvenile type of chronic myeloid leukemia. A child with this disease is described. Marked myeloid proliferation, anemia, thrombocytopenia and hepatosplenomegaly were present; leukocyte alkaline phosphatase and fetal hemoglobin were moderately elevated. Chromosome analysis of bone marrow cells revealed a mosaicism 47,XX,+21/46,XX. Down's syndrome was ruled out by the child's normal phenotype and dermatoglyphic analysis. The cytogenetic finding is probably evidence for the clonal origin of the trisomy 21 cell line.
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PMID:Myeloproliferative disease of childhood associated with a trisomy 21 clone. 11 7

Congenital leukaemia is a rare disease with approximately 100 cases reported in the literature. It is most often diagnosed as acute myelogenous leukaemia (AML). Leukaemic skin nodules and hepatosplenomegaly are the most frequent clinical findings noted. The laboratory manifestations include a markedly elevated white count with a large percentage of blasts, and a bone marrow aspirate that is cellular with a monotonous population of immature cells. Neonatal leukaemoid and leucoerythroblastic reactions may cause diagnostic confusion. In particular, the neonate with Down's syndrome can manifest either AML or a profound transient myeloproliferative syndrome that is clinically and haematologically indistinguishable from congenital AML. In contrast to congenital leukaemia, however, this myeloproliferative syndrome is transient and resolves spontaneously without anti-leukaemia therapy. On the other hand, untreated congenital leukaemia is a fatal disease. For this reason it is important to establish early diagnosis of congenital leukaemia and institute therapy. Treatment programmes should be modelled after established childhood programmes for acute lymphocytic leukaemia and acute myelogenous leukaemia.
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PMID:Congenital leukaemia and the neonatal myeloproliferative disorders associated with Down's syndrome. 14 90

Of 2947 children with acute lymphocytic leukemia (ALL), treated during three consecutive studies of the Pediatric Oncology Group (1974-1986), 52 (1.8%) had Down's Syndrome (DS). Comparison of clinical and laboratory characteristics showed no significant differences in leukocyte count, racial distribution, sex ratio, platelet count, incidence of mediastinal mass, lymphadenopathy or hepatosplenomegaly, or percentage of blood or bone marrow blasts for children with ALL with or without Down's Syndrome (DS-ALL or NDS-ALL, respectively). However, children with DS-ALL were slightly older at the time of presentation and had higher hemoglobin values. The relative frequency of each major immunophenotype (early pre-B, pre-B, T, or B) was also comparable for patients with or without DS. For this report, treatment regimens were categorized as either conventional (no consolidation therapy) or intensive. Cox regression analysis revealed that the presence of DS, a higher leukocyte count, black race, or age older than 10 years was independently associated with a poorer event-free survival (EFS) for children treated with conventional chemotherapy. However, for the cohort of children who received intensive chemotherapy, DS was no longer an independent risk factor. In fact, event-free survival (EFS) was markedly improved to a level comparable with that observed in the children diagnosed as having NDS-ALL. On the other hand, serious toxicity, requiring interruption of treatment, was significantly more frequent in the intensively treated children with DS compared with similarly treated patients with NDS-ALL, although deaths resulting from toxicity occurred infrequently.
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PMID:Clinical characteristics and treatment outcome of children with acute lymphocytic leukemia and Down's syndrome. A Pediatric Oncology Group study. 182 25

The first case known to us with Down's syndrome with transient abnormal myelopoiesis and diffuse hepatic necrosis is reported. The infant had prominent bleeding diathesis and hepatosplenomegaly. She died on the 7th day because of intractable bleeding. The autopsy disclosed extramedullary hematopoiesis and extensive hepatic cell necrosis. Characteristic in our case was the outstanding bleeding diathesis due to coagulopathy.
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PMID:Transient abnormal myelopoiesis and diffuse hepatic necrosis in Down's syndrome with prominent bleeding diathesis. 213 41

This report describes three cases with Down's syndrome. These cases initially had transient abnormal myelopoiesis (TAM), from which they recovered spontaneously. They finally developed into overt acute leukemia characterized by an increase of blasts, hepatosplenomegaly, and elevated lactic dehydrogenase. Of these three cases, one was thought to have ANLL, which broke out 5 months after spontaneous remission. The other two had ALL, each occurring 8 and 9 years later. Chromosomal abnormality, in addition to trisomy 21, was detected in blast cells from one of the patients with acute leukemia. All three patients with acute leukemia experienced complete remission. However, two of the three patients relapsed and died. It is noted in the literature that remission is permanent in most cases of TAM, and is rarely terminated by leukemic relapse. In view of our observations, the importance of following up on such patients who evidence apparent remission of their leukemia-like disorder is emphasized.
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PMID:[Transient abnormal myelopoiesis followed by acute leukemia in children with Down syndrome]. 215 Apr 19

An autopsied case of acute megakaryoblastic leukemia is described in a 20 months old, Japanese female infant with Down's syndrome. She presented spontaneous remission of transient abnormal myelopoiesis in her neonatal period, which was followed by acute megakaryoblastic leukemia 1 year later. The clinical picture of acute megakaryoblastic leukemia was initially characterized by peripheral pancytopenia with a few blasts, the absence of hepatosplenomegaly, but ended in overt leukemia characterized by increase of blasts, marked hepatosplenomegaly, and elevated LDH. She died 6 months after the onset at 20 months of age. Autopsy findings revealed widespread leukemic infiltration comprised of megakaryoblasts and megakaryocytes, and extramedullary tumors in the left tibia, the liver, both kidneys, and the endocardium of the heart. Identification of the megakaryocytic cell line was performed in immunohistochemistry and electron microscopy. Chromosomal analyses of peripheral blood disclosed 47, XX, +21, in her neonatal period but disclosed 48, XX, +G, +G, in acute megakaryoblastic leukemia.
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PMID:Transient abnormal myelopoiesis followed by acute megakaryoblastic leukemia with extramedullary tumors. An autopsied case of Down's syndrome. 622 8

A case of 5-day old newborn infant with trisomy 21, who presented a leucocytosis (151 000/ml) with 60% of monoblasts and marked hepatosplenomegaly is reported. Transient abnormal myelopoiesis (TAM) was retained. TAM regressed spontaneously. However the baby died at the age of 50 days. The autopsy showed extramedullary hematopoiesis with marked monocytosis and liver cirrhosis of neonatal hepatitic origin. The pathogenesis of TAM in this case was discussed.
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PMID:[Transitory abnormal myelopoiesis of the monoblastic form in a newborn infant with Down's syndrome and liver cirrhosis]. 623 84

Transient leukemoid reactions that resemble acute leukemia have been well described for infants with trisomy 21 (Down syndrome). We report a phenotypically normal 3-day-old boy with hepatosplenomegaly, leukocytosis, and circulating myeloblasts. On chromosome analysis, trisomy 21 was found in all blood and bone marrow cells. However, only 4% of cultured skin fibroblasts were trisomic and the other 96% were normal, thus indicating mosaicism. Without treatment, the leukocyte count gradually returned to normal and the organomegaly diminished. Subsequently, chromosome analysis of blood and bone marrow disclosed a predominance of cells with a normal karyotype. These findings suggest that mosaicism could be responsible for the transient leukemoid reactions in some newborns--i.e., the trisomic cells may temporarily gain a proliferative advantage over the normal cells, perhaps by inhibiting their growth. Serial cytogenetic studies, as well as chromosome analysis of more than one tissue, may help to distinguish transient leukemoid reactions from acute leukemia in infants.
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PMID:Transient leukemoid reaction and trisomy 21 mosaicism in a phenotypically normal newborn. 644 34

2 children with Down's syndrome showed severe anaemia, leucocytosis with blastic cells, thrombocytopenia and hepatosplenomegaly. Bone marrow aspirations were near-dry tap and marrow biopsy revealed primary myelofibrosis with myeloid metaplasia (MMM). Their course was short with a blood picture similar to that of leukaemia. They expired 2 months and 21/2 months after diagnosis, respectively. The cases were thought to represent an acute childhood variant of MMM. Cytogenetic study of circulating white cells by 24 h culture without phytophaemagglutinin stimulation revealed aneuploidy in both cases, the first case showing marked aneuploidy with a predominant karyotype of 50,XX,+8,+19,+19,+21 and the second case a mosaic of 47,XX,+G/48,XX+G,+G. The karyotype of phytohaemagglutinin stimulated lymphocytes was 47,XX,+G in both cases. These findings suggest that the abnormal karyotypes are those of circulating blastic cells which are abnormal clones of haematopoietic cells responsible for MMM. In Down's syndrome, MMM might not be so rare as reported.
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PMID:Primary myelofibrosis with myeloid metaplasia and cytogenetically abnormal clones in 2 children with Down's syndrome. 645 73

The clinical, hematologic, and cytogenetic findings are described in a patient who developed clinical and hematologic features of acute myelogenous leukemia (AML) after a three-year period of observation with unexplained thrombocytopenia. Five months before the diagnosis of AML she developed hepatosplenomegaly and a lupus-like syndrome. At this time she was also found to have trisomy 21 in all bone marrow cells studied, in addition to trisomy 8 in a few cells. The finding of trisomy 21 in all of the bone marrow cells examined could reflect a nonrandom alteration in the leukemic stem line or it might indicate that mosaic patients with trisomy 21 cells in their bone marrow share the increased risk of AML that has been documented for trisomy 21 patients.
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PMID:Trisomy 21 in bone marrow cells of a patient with a prolonged preleukemic phase. 693 5


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