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)

Two infants with lethargy, vomiting, convulsions, coma and marked metabolic acidosis were found to have very high concentrations of methylmalonic acid in their serum and urine. In vitro studies of fibroblasts demonstrated that the infants had different variants of methylmalonic acidemia.Vitamin B(12) was given in two different forms at 1 month of age and at 12 months of age. Each trial continued for 4 months but neither infant showed a clinical or biochemical response.In both infants hyperglycinemia, neutropenia and thrombocytopenia developed during acute metabolic crises only. Hypoglycemia was found in patient 2. Hyperammonemia was severe in patient 2 during acute crises but never appeared in patient 1. When clinically well, both infants continued to excrete abnormal amounts of methylmalonic acid in the urine and both had persistent compensated metabolic acidosis.Marked hyperuricemia developed in patient 1 at 18 months of age and led to progressive renal failure. Allopurinol therapy was necessary to keep the uric acid concentration within the normal range. Renal function returned to normal, as indicated by a marked increase in the renal clearance of creatinine and uric acid.Patient 1 is physically and mentally retarded, and has moderate hypotonia, hepatomegaly and persistent vomiting. Patient 2 has developed normally.The urine concentrations of methylmalonic acid in the four parents were normal.
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PMID:Methylmalonic acidemia: 6 years' clinical experience with two variants unresponsive to vitamin B12 therapy. 3 17

Overnight metabolic studies in 39 poorly controlled insulin-treated diabetic patients aged 9 to 66 years showed hypoglycaemia (blood-glucose less than 2 mmol/1) in 22 patients; it lasted 3 h or more in 17. Hypoglycaemic symptoms were very mild or absent, but 19 patients had other features of overtreatment with insulin. These included lethargy, depression, night sweats, morning headaches, fits (3 patients), glycogen-laden hepatomegaly (3), and acquired tolerance to high doses of insulin (mean 1 u/kg/24 h). The best clinical clue to recurrent nocturnal hypoglycaemia was the intermittent occurrence of symptoms, however "mild" and infrequent these appeared to be. Reduction of insulin by a mean of 25% in these patients (without change of species) did not result in loss of overall control; 1 patient with recurrent ketoacidosis was stablished on 40% of his initial dose. It is difficult, sometimes impossible, to achieve good overnight control with conventional once or twice daily insulin therapy. Since patients readily become tolerant of low blood-glucose levels, reliance on urine tests and symptoms of hypoglycaemia as a guide to dosage easily produces a spiral of overtreatment.
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PMID:Unrecognised nocturnal hypoglycaemia in insulin-treated diabetics. 8 75

Brucellosis has always been an unusual disease in children and, concomitant with the control of the disease in domestic animals, reports have become sparse. The pediatrician, therefore, may not be aware of the protean clinical manifestations of childhood brucellosis. In 1973, nine cases occurred during a three-month period in El Paso, Texas. All cases were marked by spiking fevers and lethargy of four days to four weeks in duration. Tender hepatomegaly or splenomegaly was striking in seven patients. Other characteristics included epistaxis, arthralgia, myalgia, and weight loss. Leukopenia and leukemoid reaction were found in five patients. All of the patients tested had elevated liver enzymes. Febrile agglutinins were invaluable in screening for an early clue to diagnosis. When Brucella abortus antigen agglutinated serum from patients with a positive screen in dilutions greater than 1:320, a presumptive diagnosis of brucellosis was made. Brucella was isolated from the blood or bone marrow in seven patients and the time of incubation proved crucial for successful recovery. Bacterial blood cultures are usually discarded at ten days of age, as were cultures from the only two patients from whom the organism was not recovered. All of the cultures incubated for 12 to 15 days grew B. melitensis, an unusual causative species in the United States. However, several patients admitted eating cheese from the State of Chihuahua, Mexico, made from unpasteurized goat's milk, the presumed source of the infection. Within one to three days, all patients responded dramatically to antibiotics; tetracycline was given orally for 21 days and streptomycin intramuscularly for 14 days. Pediatricians caring for patients in areas where consumption of unpasteurized milk products is likely would do well to consider brucellosis in a child with obscure fever or toxic hepatosplenomegaly.
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PMID:Brucellosis in childhood. 80 83

Nonhematopoietic hepatic neoplasms (n = 25) were diagnosed in 21 cats during a 5.5-year period. Thirteen of the neoplasms were benign bile duct adenomas and 12 were malignant, 6 of which were bile duct adenocarcinomas. All cats were greater than or equal to 10 years old, and 14 were male. Main clinical signs were anorexia and lethargy, and 15 of 21 cats had hepatomegaly. All 21 cats were feline leukemia virus-test negative. Although there was a trend toward high activities of serum alanine transaminase and aspartate transaminase, neither clinical signs nor enzyme activity were specific for diagnosis of hepatic neoplasia in the cats of this study.
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PMID:Nonhematopoietic hepatic neoplasms in cats: 21 cases (1983-1988). 133 Sep 99

Galactosemia in newborns and infants is associated with the following symptoms: jaundice, hepatomegaly, failure to thrive, feeding difficulties, hypoglycemia, convulsions, lethargy, amino-aciduria, cataracts, hepatic cirrhosis, ascites, and mental retardation. If the preliminary evaluation indicates galactosemia, there is high risk for E. coli sepsis and death. Strong consideration should therefore be given for early antibiotic therapy in infants with suspected galactosemia in spite of the absence of clinical signs or symptoms of sepsis.
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PMID:Association of Escherichia coli sepsis and galactosemia in neonates. 156 28

The clinical features and haematologic indices of 100 young infants aged 3 months and below, admitted with suspected bacterial infections, were analysed. Fever, lethargy, hepatomegaly, poor feeding and irritability were the commonest features for suspecting a bacterial infection in these infants. However, the features significantly associated with bacterial infections were respiratory distress and cyanosis. Of the haematologic indices commonly associated with bacterial infections, only C-reactive protein and erythrocyte sedimentation rate were significantly predictive compared to leukocyte counts, absolute neutrophil counts and nitro-blue tetrazolium tests. When used in combination, a raised C-reactive protein with erythrocyte sedimentation rate, a raised erythrocyte sedimentation rate with abnormal leukocyte counts and a raised C-reactive protein with abnormal leukocyte counts were significantly associated with bacterial infections.
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PMID:Clinical features and haematological indices of bacterial infections in young infants. 162 Nov 14

Supplemental dietary F has been shown to counteract P-induced nephrocalcinosis in female rats. In order to obtain information as to the specificity of this F effect, the effect of other halogens, namely Br and I, on P-induced nephrocalcinosis was studied in weanling female rats. Supplemental dietary Br (5.24 mmol/kg of diet) and I (1.43 mmol/kg of diet) did not influence P-induced nephrocalcinosis, whereas F at equimolar dietary concentrations had marked antinephrocalcinogenic activity. The halogens were added to the diets in the form of KBr, KI, and NaF; the diets were balanced for the kations with Cl salts. The addition of KI to the diet to a concentration of 5.24 mmol/kg caused pronounced growth retardation, decreased feed intake, hepatomegaly, and signs of lethargy. It is concluded that the protective effect of dietary F against P-induced nephrocalcinosis does not extend to other halogens.
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PMID:Dietary fluoride, unlike bromide or iodide, counteracts phosphorus-induced nephrocalcinosis in female rats. 172 78

From 65 reported cases of medium chain acyl-CoA dehydrogenase deficiency, we found an average presenting age of 13.5 months and a mean age at death of 18.5 months. One quarter of patients died of a Reye-like syndrome and/or sudden infant death. In half the cases there had been at least one sibling death. Asymptomatic cases were not uncommon (12% of cases). The crises were generally induced by a prolonged fast and after a viral prodromal phase in three quarters of cases. The crises consisted of somnolence progressing to lethargy which could lead to coma. Vomiting was frequent (60% of cases). Seizures, which were found in 29% of cases, represented a bad prognosis. The physical examinations revealed frequently a variable and regressive anicteric hepatomegaly. Blood and urine analysis revealed in most instances hypoglycaemia (96% of cases) with hypoketonuria and sometimes metabolic acidosis. Hepatic and muscular cytolytic enzymes were frequently raised, as were plasma ammonia, urea, and uric acid. Plasma total or free carnitine concentrations, especially non-fasting, were diminished in most cases. Plasma saturated medium chain fatty acids and particularly unsaturated cis-4-decenoate were on the other hand raised during the crises or during fasting. Urinary organic acid analysis revealed a characteristic profile of medium chain aciduria: C6-C10 dicarboxylic acids, hydroxy acids, glycine conjugates, and carnitine conjugates. Oral loading tests with carnitine or phenylpropionate allow a precise diagnosis. The diagnosis is confirmed by specific assays in various tissues. Avoidance of prolonged fasting seems to be the mainstay of treatment.
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PMID:Medium chain acyl-CoA dehydrogenase deficiency. 173 32

Four newborns with adenovirus infection are described, and the profile of neonatal adenovirus disease is outlined based on the cases of these newborns and nine previously described. Characteristic historical features included prolonged rupture of membranes, maternal illness, vaginal delivery, and onset of illness within the first 10 days of life. Clinical findings included lethargy, fever or hypothermia, anorexia, apnea, hepatomegaly, bleeding, and progressive pneumonia. Thrombocytopenia, coagulopathy, and hepatitis were typical laboratory manifestations. Illness was severe and generally unremitting; only two survivors have been reported. Pathologic changes were prominent in lung, liver, and brain. Virus isolates, predominantly serotypes 3, 7, 21, and 30 were obtained from multiple sites and organs. Epidemiologic evidence suggests that viral acquisition from the mother, perhaps via the birth canal, is a major mode of transmission. Neonatal adenovirus infection, which is frequently disseminated and generally fatal, should be considered in the differential diagnosis of neonatal sepsis and pneumonia.
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PMID:Neonatal adenovirus infection: four patients and review of the literature. 203 95

Acute nonlymphocytic leukemia was diagnosed in a 1-year-old Rhodesian Ridgeback. Clinical signs of disease included weight loss, anorexia, lethargy, lymphadenopathy, splenomegaly, and hepatomegaly. Doxorubicin was administered IV on day 4 at a dosage of 30 mg/m2 of body surface, followed 2 days later by oral administration of cyclophosphamide at a dosage of 100 mg/m2. The cyclophosphamide was given for 4 consecutive days (days 8, 9, 10, and 11), but the WBC count did not respond. The dog was administered 500 ml of blood; but on day 12, it died. Necropsy was not performed, but the presumptive cause of death was related to leukostasis.
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PMID:Acute nonlymphocytic leukemia in a dog. 229 42


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