Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

No more than 150 cases of neonatal leukemia had been reported in the literature. Seven additional cases are reported herein. The incidence of neonatal leukemia has been of one in 50,000. Its incidence among the group of neonates requiring hospitalization has been of 0.075%. The seven neonates with leukemia consist of five males and two females. Two of them had an associated Down's syndrome. Abdominal distension, hepatomegaly, splenomegaly, cutaneous manifestations and purpura were the most frequent clinical findings in our patients. Severe anemia was present in only three patients. Thrombocytopenia was recognized in six of them. A high white blood cell count was present in five patients. The number of blast cells in their peripheral blood smear ranged between 16 and 100%. A remarkable myeloid dominance was observed. One patient died two hours after birth and his diagnosis was made at autopsy. Three patients were diagnosed before the age of three weeks. The three patients with myeloid leukemia were treated with DNR and Ara-C. A complete hematological remission was achieved in two of them. One patient died of a Pn. carinii pneumonia one month after the remission was induced. The remainder patient of this group had a Down's syndrome and the leukemia had been confirmed by hepatic biopsy. After two years of maintenance with Ara-C and Thioguanine he is alive and both, peripheral blood and bone marrow, remains normal. A lymphocitic leukemia was seen in only two patients. One was treated with prednisolone and VCR, and the other with prednisolone, VR and L-Asp. In both cases a good response to the chemotherapy was observed. Autopsy was performed in all patients who died but one. The pathological findings are analyzed. The low survival among patients with neonatal leukemia may be influenced by the toxic side effects of the used chemotherapy. All aspects of the medical treatment including drugs of choice and the usefullness of isolation devices are further discussed.
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PMID:[Neonatal leukemia. Report of seven cases (author's transl)]. 106 63

Review of 5406 children with acute lymphoblastic (ALL) or nonlymphoblastic leukemia (ANLL) registered with Childrens Cancer Study Group (CCSG) since 1972 identified 115 patients (2.1%) with Down syndrome. The proportion of patients with Down syndrome was the same for ALL (2.1%) and ANLL (2.1%). Patients with ALL with and without Down syndrome did not differ significantly with respect to age at diagnosis, sex, race, morphology (FAB classification), cell surface markers, initial white blood cell count, pretreatment hemoglobin value, hepatomegaly, lymphadenopathy, presence of mediastinal mass, CNS disease at diagnosis, or prognostic group as defined by age and initial white blood cell count. Patients with ALL-Down syndrome less frequently had splenomegaly, had lower pretreatment platelet counts, and more often had normal or elevated IgG or IgA levels. In addition, they had a significantly lower rate of remission (81% versus 94%), a higher mortality during induction therapy (14% versus 3%), and a poorer overall survival with 5-year life table rates of 50% versus 65% (P less than 0.001). If an initial remission was achieved, there were no significant differences with respect to remission duration, survival, or disease-free survival. Patients with ANLL-Down syndrome were younger at diagnosis than those without Down syndrome. There was no significant difference in the remission rates between these patients. Analysis of findings in patients with ANLL provided results similar to those obtained for patients with ALL with regard to clinical outcome after achievement of an initial remission.
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PMID:Down syndrome and acute leukemia in children: a 10-year retrospective survey from Childrens Cancer Study Group. 623 37

A 34-year-old woman with an abnormal maternal serum screening result and a Down syndrome risk of 1:60 calculated from a maternal serum alpha-fetoprotein (AFP) value of 1.4 multiples of the median (MoM) and a human chorionic gonadotrophin (hCG) level of 4.32 MoM at 18 weeks' gestation was found to have isolated fetal ascites at 23 weeks' gestation. Spontaneous resolution occurred 10 weeks after the initial presentation. After birth, the neonate had generalized cutis marmorata telangiectatica congenita (CMTC), large vascular plaques on the scalp with superficial ulceration and crusts, a small atrial septal defect, a patent ductus arteriosus, hepatomegaly, micrognathia, seizures, an abnormal electroencephalogram, congenital retinal detachment, glaucoma and widely spaced toes. Our patient illustrates that CMTC in utero may be associated with a markedly elevated maternal serum hCG level as well as transitory isolated fetal ascites. However, such associations can be coincidental and further collaborative studies and cases will be necessary before it can be determined that a disproportionately elevated hCG level and transitory isolated fetal ascites are predictive of CMTC in utero.
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PMID:Cutis marmorata telangiectatica congenita associated with an elevated maternal serum human chorionic gonadotrophin level and transitory isolated fetal ascites. 906 48

We present the clinicopathologic findings and survival data on 10 patients with acute lymphoblastic leukemia (ALL) and a rare t(8;14)(q11.2;q32). There were five male and five female patients, nine Caucasians and one Black, aged 4-17 (median 10.9) years. Three had Down syndrome. Eight (80%) patients had a white blood cell (WBC) count <50 x 109/l at presentation. No patient had central nervous system involvement or a mediastinal mass. Two patients had concurrent splenomegaly and hepatomegaly. Adenopathy was absent in four, minimal in three, moderate in one and prominent in two patients. All eight cases where immunophenotyping was performed by flow cytometry showed a B-precursor phenotype with expression of CD10 (CALLA). Only one case exhibited t(8;14)(q11.2;q32) as the sole karyotypic abnormality. Three patients were classified as standard-risk and seven high-risk by NCI (National Cancer Institute) consensus risk group categories. All patients achieved complete remission and seven patients were in complete continuous remission (CCR) after chemotherapy designed for B-precursor ALL. Three patients relapsed after 23.5, 31.3 and 32.1 months of EFS; the first patient also had t(9;22)(q34;q11), the second had a WBC count of 126 x 109/l at presentation while the third patient had no high risk features except for age 10 years. Thus, from our data, the t(8;14)(q11.2;q32) does not appear to confer an increased risk of relapse. Further observations are needed to confirm this conclusion.
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PMID:Acute lymphoblastic leukemia with an unusual t(8;14)(q11.2;q32): a Pediatric Oncology Group Study. 1148 May 76

We present two cases of transient abnormal myelopoiesis associated with trisomy 21 that had hypoechoic hepatomegaly during the late fetal period. Fetal chromosomal abnormality and fetal myeloproliferative disorder should be suspected in such cases.
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PMID:Hypoechoic hepatomegaly associated with transient abnormal myelopoiesis provides clues to trisomy 21 in the third-trimester fetus. 1138 Sep 72

Persistent fever with pancytopenia and hepatomegaly with negative blood cultures and no obvious focus of infection in a child with Down syndrome should arouse a suspicion of leukemia. Bone marrow examination and clot biopsy from one such patient revealed hemophagocytosis and granulomas, with serologic evidence of recent Epstein-Barr virus infection. Bone marrow granulomas are not a feature of Epstein-Barr infection. Later, bone marrow culture and repeat blood culture grew Salmonella typhi. Thus, in a febrile child, when performing a bone marrow aspirate, a clot biopsy and culture for infectious etiology may be helpful, even when leukemia is strongly suspected.
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PMID:Hemophagocytosis and granulomas in the bone marrow of a child with Down syndrome. 1190 10

The objective of this study was to identify biologic parameters that were associated with either exceptionally good or poor outcome in childhood acute myeloid leukemia (AML). Among the children with AML who entered Children's Cancer Group trial 213, 498 patients without Down syndrome or acute promyelocytic leukemia (APL) comprise the basis for this report. Univariate comparisons of the proportion of patients attaining complete remission after induction (CR) indicate that, at diagnosis, male gender, low platelet count (< or =20 000/microl), hepatomegaly, myelodysplastic syndrome (MDS), French-American- British (FAB) category M5, high (>15%) bone marrow (BM) blasts on day 14 of the first course of induction, and +8 are associated with lower CR rates, while abnormal 16 is associated with a higher CR rate. Multivariate analysis suggests high platelet count at diagnosis (>20 000/microl), absence of hepatomegaly, < or =15% day 14 BM blast percentage, and abnormal 16 are independent prognostic factors associated with better CR. Univariate analysis demonstrated a significant favorable relationship between platelet count at diagnosis (>20 000/microl), absence of hepatomegaly, low percentage of BM blasts (< or =15%), and abnormal 16 with overall survival. Absence of hepatomegaly, < or =15% day 14 BM blast percentage, and abnormal 16 were determined to be independent prognostic factors associated with better survival.
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PMID:Prognostic variables in newly diagnosed children and adolescents with acute myeloid leukemia: Children's Cancer Group Study 213. 1196 Mar 39

Although laparoscopic fundoplication is now performed commonly in children, its long-term results in neurologically impaired (NI) children is unknown. We present a single surgeon's experience. During an 8.5 year period, 54 consecutive NI children (age 5 months to 16 years; weight 2.7 to 42 kg) who had failed medical treatment for severe gastroesophageal reflux (GER) underwent laparoscopic Nissen fundoplication without (7) or with (47) gastrostomy. Indications for surgery included failure to thrive and feeding difficulties in all, major vomiting in 42, recurrent chest infections in 44, and inability to take oral medication in 14. Hiatus hernia was present in 14 and delayed gastric emptying in 6 patients. Eight (15%) had undergone previous abdominal surgery. Access was modified according to individual anatomy and 4 or 5 cannulae were used in each patient. Postoperative epidural/morphine analgesia was used in the first 12 to 24 hours, and fluid intake and feeding were started on day 1 and 2, respectively. The average operating time for fundoplication was 2.2 hours (range 1.05 to 3) and for fundoplication and gastrostomy 2.3 hours (range 1.22 to 4.10). Three patients had conversion to open surgery (1 perforated esophagus, 1 hypercarbia and hepatomegaly, 1 camera failure). There were no other operative complications or mortality. One child with Down syndrome developed a food bolus obstruction 3 days postoperatively. The vast majority of patients were discharged home 3 to 4 days following fundoplication and 5 to 7 days following fundoplication and gastrostomy. Postoperative gas bloat was common, diarrhea developed in 4, dumping in 3, and major gastrostomy infection in 1 case. During follow-up (median 5.2, range 3 months to 8.6 years), 9 (16%) children showed signs of persistent/recurrent problems. Investigations showed a recurrent hiatus hernia in 1 (requiring re-operation) and minor reflux in 3 patients. To date 6 (11%) children have died of their background conditions. In NI children, laparoscopic fundoplication is safe and successful. Awareness of the differences in access and risks for NI and normal children is important. Compared with historical data for open technique, laparoscopic fundoplication produces lower mortality and morbidity and similar intermediate and long-term results.
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PMID:Results of laparoscopic antireflux procedures in neurologically impaired children. 1240 29

Most cases of urticaria pigmentosa are confined to the skin, but visceral involvement and/or haematological abnormalities have been observed. It is still a matter of debate whether all forms of mastocytosis are true neoplasias or reactive hyperplasias. Familial inheritance of urticaria pigmentosa is rare. We report on a fraternal set with urticaria pigmentosa as part of a systemic mastocytosis. The first patient additionally revealed persistent thrombocytosis and splenomegaly. His brother developed urticaria pigmentosa, intermittent diarrhoea, hepatomegaly and asthma bronchiale associated with trisomy 21 (Down's syndrome). The association of mastocytosis with thrombocytosis has seldom been described. In our patient it preceded the development of systemic mastocytosis. The association with Down's syndrome has not been reported until now.
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PMID:Familial urticaria pigmentosa associated with thrombocytosis as the initial symptom of systemic mastocytosis and Down's syndrome. 1476 Nov 47

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


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