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)

Identical twin Caucasian boys, age 3 months, were seen with fever of unknown origin, hepatosplenomegaly, and pancytopenia. The diagnosis of familial erythrophagocytic lymphohistiocytosis (FEL) was suspected after examination of Twin A's bone marrow and confirmed by an open liver biopsy of Twin B. Twin A died shortly after diagnosis despite treatment with vincristine and prednisone. At autopsy, the diagnosis was confirmed. Twin B responded initially to a three-week course of weekly vincristine and daily prednisone, but symptoms soon recurred. In an effort to enhance delivery of chemotherapy to the active macrophage target, platelets were loaded with vinblastine and then administered intravenously to th patient every 7-10 days. There was an encouraging response reflected by the disappearance of symptoms and the return of peripheral blood count to the normal range, although increased number of histiocytes was still demonstrable in his bone marrow. After nine weeks, he lapsed completely and became refractory to treatment. He died of pseudomonas sepsis four months after diagnosis. This is the first known attempt to deliver a chemotherapeutic agent directly to the macrophages in treating this disease and represents an interesting concept that merits further exploration.
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PMID:Familial erythrophagocytic lymphohistiocytosis: treatment with vinblastine-loaded platelets. 719 95

The clinical features of 13 patients with angioimmunoblastic lymphadenopathy were analyzed to determine prognostic factors and response to therapy. Eleven patients presented with sudden onset of fever, weight loss, generalized lymphadenopathy, and hepatosplenomegaly. Laboratory features included autoimmune hemolytic anemia and polyclonal hypergammaglobulinemia. Pulmonary involvement was seen in six cases and skin rash in four. Two patients had localized lymphadenopathy without systemic symptoms. Both are alive at 5.5 and 2.5 years, respectively, after diagnosis, although the latter patient has required intermittent prednisone for recurrent lymphadenopathy. An additional patient is alive on treatment for months following diagnosis. The remaining ten have died, nine of sepsis and one of cerebral hemorrhage. The immunosuppression and myelosuppression of combination chemotherapy may have hastened their deaths. An individualized, conservative treatment approach is recommended.
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PMID:Angioimmunoblastic lymphadenopathy: clinical spectrum of disease. 729 97

A 2-month-old girl presented with enlarged head girth, generalized petechiae, anemia, coagulopathy and hepatosplenomegaly. Imaging studies showed a huge, dumbbell-shaped intracranial hemangioma located between the falx, and involving the supra- and infra-tentorium, extending through the posterior fontanel to involve the subgaleal area. A urine culture grew cytomegalovirus. Severe thrombocytopenia was refractory to a massive platelet transfusion, intravenous immunoglobulin and corticosteroid therapy. Hypertension, pulmonary hemorrhage and sepsis complicated the course. After establishing a diagnosis of Kasabach-Merritt syndrome, subcutaneous injections of alpha-interferon were given with an initial dose of 1 x 10(6) IU/m2 followed by 3 x 10(6) IU/m2 per day for 12.5 mo. Her platelet count rose gradually and became stable after 1.5 mo of interferon treatment. The intracranial hemangioma regressed remarkably and the hepatosplenomegaly was also resolved. The infant showed good growth and development, without obvious side-effects during the 23-month follow-up period. The treatment with recombinant alpha-interferon appeared to be effective in reversing thrombocytopenia associated with the patient's massive intracranial hemangioma.
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PMID:Recombinant alpha-interferon treatment of intracranial hemangioma and Kasabach-Merritt syndrome in an infant with cytomegalovirus. 761 60

A male preterm infant (born at 34 weeks, birth weight 2130 g) developed jaundice (total bilirubin 7.4 mg/dl), hepatosplenomegaly, thrombocytopenia (82,000/microliters) and a raised C-reactive protein (1.2 mg/dl). Although sepsis was suspected, no organism was demonstrated. When the mother visited the child for the first time after 2 weeks, she had florid hyperthyroidism. This explained many of the child's clinical features (poor weight gain, tachycardia, exophthalmos). Both mother and child had raised TSH receptor antibodies (mother: 684.6 U/l; 54.1 U/l, normal < 15 U/l), an increased free T4 and a suppressed TSH. Because of the tachycardia, the child was treated with propranolol (1 mg/kg.d for 5 weeks). He was also initially given Lugol's solution (25 mg iodide/kg.d for 1 week) and then propylthiouracil (7 mg/kg.d) because of the increasing total T3. L-Thyroxine replacement was subsequently required for a period of 2.5 weeks because of treatment-related hypothyroidism. Since stopping treatment (at 12 weeks of age), the child has developed normally.--Neonatal hyperthyroidism due to transplacental transfer of TSH receptor antibodies associated with maternal Graves' disease is a rare self-limiting condition. However, it may pose considerable danger to the child both in utero and postnatally (with a mortality if untreated of up to 20%). Interdisciplinary cooperation is essential.
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PMID:[Neonatal hyperthyroidism in non-diagnosed Basedow's disease of the mother. Problems of diagnosis and therapy illustrated by a case history]. 799 50

A post-dated intra-uterine growth retarded male Malay baby was born to a 30-year-old mother gravida II by Caesarean section. Her previous pregnancy ended in still-birth. The baby was severely asphyxiated at birth. He was intubated and immediately admitted to the neonatal intensive care unit. He had anasarca, anaemia, purpura and firm, massive hepatosplenomegaly. X-rays revealed ascites and bilateral metaphysiitis of the long bones. The haemoglobin level was 5.0 gm/dl and PCV 18.3%. Coombs' test was negative. Prothrombin time (PT) and partial thromboplastin time (PTT) were prolonged. The baby and mother were positive for Venereal Disease Research Laboratory (VDRL) and the treponema pallidum haemagglutination assay (TPHA) tests. The baby was actively resuscitated but expired at three and a half hours of life due to overwhelming sepsis associated with severe anaemia and disseminated intravascular coagulation.
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PMID:Case report--a neonate with nonimmune hydrops fetalis. 815 1

Enterovirus infection has been recognized as one of the most common viral infections in the perinatal and neonatal periods. It frequently leads to significant mortality. One fatal case of neonatal enteroviral infection was experienced in last year. The patient was a one-day-old male, presenting with neonatal sepsis. He has a biphasic illness, first with a mild febrile prodrome then followed by severe systemic involvement, with meningitis, myocarditis, hepatosplenomegaly and disseminated intravascular coagulation. All bacterial cultures were negative, but the rectal swab isolated enterovirus. The echocardiogram revealed depressed cardiac function, and he finally expired at the age of 10 days. The autopsy findings supported the diagnosis of perinatal enteroviral infection (coxsackievirus B infection was highly suspected). Clinically, if a neonate presents as sepsis, but has the following conditions, enteroviral infection should be considered: (1) negative bacterial cultures; (2) multiple organ involvement; (3) proven enteroviral infection in the same nursery or ward; (4) a mild febrile illness in the mother within the last antepartum 10 days or the first postpartum 5 days; (5) any family members with fever or signs of upper respiratory infection within 15 days before delivery.
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PMID:Fatal enteroviral infection in a neonate. 829 63

A 29-year-old woman, with a slightly elevated temperature for 3 weeks, increasing dyspnoea at rest, markedly reduced general condition and in heart failure, was found to have a leucocytosis of 100,000/microliters, anaemia (haemoglobin 6.3 g/dl) and thrombocytopenia (41,000/microliters). There were 62% plasma cells in the blood smear. Immunoelectrophoresis of serum and urine revealed kappa-light chains and immunocytology demonstrated IgG-kappa. There was no radiological evidence of osteolysis, while ultrasound examination showed multiple abdominal lymphomas and marked hepatosplenomegaly. Bone marrow smear showed a 90% infiltration of plasma cells. High-dosage melphalan treatment (single intravenous injection of 140 mg/m2) resulted in complete remission after myelodepression over several weeks. Two extramedullary recurrences 5 and 12 months after the diagnosis had been made were successfully treated with high-dosage melphalan, but it was associated with severe and long-lasting myelodepression. Septicaemia with renal and hepatic failure developed and the patient died 6 weeks after the third course of high-dosage melphalan, 14 months after the diagnosis.
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PMID:[Acute plasma cell leukemia. Clinical course during high-dose melphalan therapy]. 846 34

We prospectively studied Retrograde Percutaneous Gastrostomy (RPG) in 57 children (age 3 weeks-17 years, 1.7-48 kg) as the feasibility and complications of this technique have not been reported in a large series of children. We used IV sedation (42), oral sedation (4 neonates), general anaesthesia or local anaesthesia only. The retrograde approach for gastrostomy or gastrojejunostomy catheter placement is described. Catheter placement was unsuccessful in only one child, due to the presence of marked hepatosplenomegaly. Catheters were successfully placed in all the other 56 children. In one of these, catheter misplacement occurred due to retraction of the stomach from the anterior abdominal wall during its insertion. This was recognized during the procedure. The catheter was removed and reinserted on the same occasion. One catheter was accidentally pulled out after six days and was subsequently replaced. Two children had mild, local abdominal tenderness and fever for up to 48 hours but post procedure septicemia or significant infection were not encountered. All children benefitted from gastrostomy feeding and gained weight.
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PMID:Retrograde percutaneous gastrostomy: a prospective study in 57 children. 846 86

We present a case of a 17-year old patient with extreme hepatosplenomegaly, hyperthrombocytosis, hyperleucocytosis and the presence of myelo- and megakaryoblasts in the peripheral blood film. Numerous complications that occurred in the course of the disease made cytostatic treatment difficult. Since Ph chromosome and hybrid gene bcr/abl were absent, the diagnosis of unclassified chronic myeloproliferative syndrome in the phase of blast crisis was established. Immunophenotyping confirmed a mixed myelo- megakaryoblastic character of the crisis. In the differential diagnosis other myeloproliferative syndromes were taken into account including i(17q) syndrome. The patient died after a 13-month observation due to neoplasm progression and sepsis.
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PMID:[Unclassified chronic myeloproliferative Ph(-); i(17q); +8 syndrome with mixed myelo-megakaryoblastic crisis--case report]. 862 49

Two children with acute lymphoblastic leukemia presenting with cellulitis and sepsis are described. Both presented as having hemophagocytic syndrome with the manifestations of prolonged fever, jaundice, pancytopenia, coagulopathy and histiocytic proliferation with hemophagocytosis in their bone marrows. It is similar to the virus-associated hemophagocytic syndrome (VAHS), except for the absences of lymphadenopathy, skin rash and hepatosplenomegaly. Concomitant virus infections were excluded in these two cases. Both patients' conditions improved after appropriate antibiotics and intravenous immunoglobulin therapy. The prognosis seemed better in bacteria-associated hemophagocytic syndrome (BAHS) than in VAHS even in immunocompromised patients.
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PMID:Bacteria-associated hemophagocytic syndrome in childhood acute lymphoblastic leukemia: report of two cases. 907 88


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