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)

We reported a case of TMD with transient increase of tetrasomy-21 cells in a phenotypically normal newborn. The patient was admitted to the St. Marianna University Hospital due to hepatosplenomegaly on the 7th days after birth. Hematological findings on admission revealed remarkable leukocytosis (168,300/microliters) with 79% blasts. Immunological studies of the blasts showed a positive reaction for platelet associated antigens, KOR-P77, AN50, TP80 and a pan-T antigen, TP40. Cytochemically blasts were strongly positive for acid phosphatase, positive for alpha NAE and weakly positive for PAS. The platelet peroxidase reaction was observed in rough endoplasmic reticulum of blast cells. Both immunological and cytochemical findings suggested that the blasts were of megakaryocyte lineage. Chromosomal analysis of the blasts showed 48, XX, + 21, +21 (21 tetrasomy). After chemotherapy with PSL and 6MP, bone marrow showed a complete remission. But we thought it was spontaneous remission because PSL and 6MP were not effective to acute megakaryocytic leukemia (AMKL). Bone marrow cells were karyotypically normal on the 67th day of life when abnormal blasts were not observed in the bone marrow.
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PMID:[Transient myeloproliferative disorder (TMD) with transiently increased tetrasomy-21 cells in a phenotypically normal newborn]. 281 Jul 85

Enlargement of the fetal liver and spleen as well as oligohydramnios were the only pathological sonographic signs detected in a pregnant woman presenting because of decreased fetal movements at 31 weeks' gestation. Doppler examination of fetal vessels revealed pathological values (absent or reversed flow in the umbilical artery, centralization of fetal circulation). No hydrops development or any further malformations were seen. The association of pathological Doppler findings with hepatosplenomegaly roused the suspicion of fetal infection. The infant had to be delivered because of deterioration of fetal heart rate patterns 2 days later. The newborn had Down's syndrome and the confirmed hepatosplenomegaly was found to be due to a transient myeloproliferative disorder with severe leukocytosis and predominance of immature blast forms. Hematological parameters normalized without specific therapy within 3 weeks. Although transient leukemic reactions have been diagnosed prenatally in cases of Down's syndrome associated with non-immune hydrops, to our knowledge this is the first reported case of isolated hepatosplenomegaly visualized by prenatal ultrasound as a sign of trisomy 21. The presence of fetal hepatosplenomegaly has to be taken into consideration as a possible marker for trisomy 21 and not only for infectious or metabolic diseases.
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PMID:Fetal hepatosplenomegaly: an isolated sonographic sign of trisomy 21 in a case of myeloproliferative disorder. 967 95

We report the prenatal diagnosis of a transient myeloproliferative disorder suggestive of leukaemia in a fetus with hepatosplenomegaly, hydrops and 47, XY, +21 karyotype. The initial fetal white blood cell count at 26 + 5 weeks' gestation was 190/nl with 70 per cent blast cells. Immunophenotyping of the large blasts revealed surface markers suggestive of an early stem cell differentiation arrest resulting in undifferentiated polyclonal myelopoiesis. The fetal heart tracing showed minimal beat-to-beat variability in the presence of high leukocyte counts. Serial fetal blood sampling showed decreasing blast cells in the peripheral blood and normalization of white blood cell counts. Although there was increasing hydrops, this period was marked by improvement of the fetal heart rate pattern. Finally the fetus developed pancytopenia with increasing hydrops, AV-valvular insufficiency and venous Doppler studies indicative of cardiac decompensation prior to intra-uterine death at 31 + 5 weeks' gestation. Post-mortem examination revealed marked liver and splenic necrosis without evidence of residual leukaemic infiltration in any organ. Fetal hydrops and hepatosplenomegaly may indicate an underlying haematopoietic disorder warranting further investigation. Furthermore, this case indicates that transient abnormal myelopoesis may result in a fulminant clinical picture much like true leukaemia. This may be due to increased vulnerability of the fetus or represent a disease mechanism unique to fetuses with chromosomal abnormalities.
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PMID:Prenatal diagnosis of a transient myeloproliferative disorder in trisomy 21. 970 56

We report an atypical case of congenital erythroleukemia in a child born with hepatosplenomegaly and abnormal liver tests. The initial peripheral blood cell count showed anemia and hyperleukocytosis with erythroblastosis that disappeared 1 week later. During the next 5 weeks, no blasts were found in the blood, and less than 5% were found on 2 successive bone marrow aspirates. The infant died of hepatic failure. The suspected diagnosis on a premortem liver biopsy was confirmed by an autopsy that showed a blastic infiltration in many organs. These cells expressed only erythroid markers glycophorin A and C. Rearrangement of the myeloid lymphoid leukemia gene was not found by fluorescence in situ hybridization. The main differential diagnoses include metabolic diseases, Langerhans histiocytosis, Pepper syndrome, transient myeloproliferative disorder, and leukemoid reactions. Although some of these can be excluded by the pathologist, others require a multidisciplinary confrontation: clinical, biologic, genetic, and pathologic examinations.
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PMID:Congenital anerythremic erythroleukemia presenting as hepatic failure. 1452 54

We present three cases of transient abnormal myelopoiesis associated with trisomy 21 in which hepatomegaly was apparent during the fetal period. In the first case, the fetal hepatosplenomegaly was severe, multiple organ failure occurred in the neonatal period and death ensued at 4 weeks of age. In the second case, the hepatomegaly was moderate, and with conservative treatment in the neonatal period the outcome was good. In the third case, hepatomegaly was mild and improved spontaneously, and the hematological abnormalities required only conservative treatment in the neonatal period. Our experience raises the question of whether fetal hepatosplenomegaly is a predictor of transient myeloproliferative disorder with trisomy 21 and whether the degree of fetal hepatomegaly is a marker for the neonatal severity of hematological abnormalities.
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PMID:Is the degree of fetal hepatosplenomegaly with transient abnormal myelopoiesis closely related to the postnatal severity of hematological abnormalities in Down syndrome? 1522 21

Transient myeloproliferative disorder seen in neonates with Down syndrome is often thought to have a benign course. The authors describe the clinical and laboratory profile of a neonate with Down phenotype and transient myeloproliferative disorder with pericardial effusion as co-morbidity. Pericardial fluid analysis showed eosinophils. Pericardial effusion resolved with prednisolone therapy. Regression in hepatosplenomegaly with clearance of blasts was seen by third week of illness. The clinical course suggested a benign infiltration of the pericardium. Presence of eosinophils supports the differentiating capability of the blast cells in transient myeloproliferative disorders.
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PMID:Transient myeloproliferative disorder and eosinophilic pericardial effusion in a down syndrome neonate. 1836 79

Leukemoid reaction, defined as a total leukocyte count of >50,000/mm, is most commonly related to antenatal administration of steroids, infections, and transient myeloproliferative disorder of Down syndrome in newborns. Atypical presentations of viral infections can be a diagnostic challenge in the newborn period. Cytomegalovirus (CMV) infection causes a multisystem disease, and symptomatic infants generally present with intrauterine growth restriction, hepatosplenomegaly, cholestasis, rash, thrombocytopenia, and microcephaly. We present a case of a preterm infant with severe myeloid leukemoid reaction (leukocyte count >100,000/mm) at birth who was diagnosed with congenital CMV infection on the basis of CMV polymerase chain reaction results after the appearance of cholestasis, blueberry muffin rash, and hepatosplenomegaly.
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PMID:Severe leukemoid reaction in a preterm infant with congenital cytomegalovirus infection. 2407 52