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)

The risk factors for mortality were analysed in a consecutive group of 1158 children presenting to the Aga Khan University Medical Center, Karachi, with multidrug resistant typhoid fever that had been proved on culture. There were 19 deaths, representing an overall case fatality rate of 1.6%. Multidrug resistant typhoid was associated with a more severe clinical illness and higher rates of toxicity, hepatomegaly, hypotensive shock, and death. Irrespective of drug resistance status, typhoid fever was found to be a more severe illness in young infants with significantly higher rates of diarrhoea, hypotensive shock, and mortality. Univariate analysis of admission characteristics associated with increased risk for mortality revealed significant association with younger age (p < 0.05), hypotensive shock or hypothermia (p < 0.001), obtundation (p < 0.001), seizures (p < 0.05), anaemia at admission (p < 0.005), and leucocytosis (p < 0.001). Logistic regression analysis of risk factors for mortality showed persistent association of hypothermia, toxicity, and anaemia with mortality. The data provides evidence that multidrug resistant typhoid in childhood is associated with increased risk of mortality, especially in infancy and closer attention to several risk factors for increased morbidity and case fatality rates may lead to improved outcome of treatment.
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PMID:Impact of age and drug resistance on mortality in typhoid fever. 897 60

Glycogen storage disease type III (GSD-III) is an autosomal recessive disease resulting from deficient glycogen debranching enzyme (GDE) activity. A child with GDE deficient in both liver and muscle (GSD-IIIa) had recurrent hypoglycemia, seizures, severe cardiomegaly, and hepatomegaly and died at 4 years of age. Analysis of the GDE gene in this child by single-strand conformation polymorphism, followed by direct DNA sequencing and restriction analysis, revealed an insertion of a nucleotide A into position 4529 of the GDE cDNA (4529insA). This insertion resulted in substitution of a tyrosine to a stop codon at amino acid 1510 (Y1510X). The 4529insA mutation appeared to be homozygous in this patient and was not found in 20 unrelated controls or 18 other GSD-III patients (14 GSD-IIIa and 4 GSD-IIIb). This is the first identification of a disease mutation in this gene, and the data suggest that homozygous 4529insA may be associated with a severe phenotype in GSD-IIIa.
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PMID:A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa. 899 6

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 describe the term male infant of asymptomatic, healthy nonconsanguineous parents presenting on the first day of life with nonketotic hypoglycemia, seizures, hepatomegaly, cardiomegaly with biventricular hypertrophy, and ventricular arrhythmias. Cranial ultrasound revealed cystic dysplasia with several foci of hyperechogenicity within the right basal ganglia. Free carnitine was markedly decreased in the urine and plasma with a pronounced elevation of plasma long-chain acylcarnitines. Fibroblast carnitine palmitoyltransferase II activity was reduced to 26% and 38% in the father and mother, respectively. The infant expired on day 5 of life from malignant ventricular tachy-arrhythmias. Diffuse lipid accumulation was evident at autopsy, including in the liver, heart, kidney, adrenal cortex, skeletal muscle, and lungs. This new case of infantile CPT-II deficiency illustrates the severity of the early onset form of CPT-II deficiency.
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PMID:Fatal carnitine palmitoyltransferase II deficiency in a newborn: new phenotypic features. 992 37

We have observed a 26-year-old diabetic male who had been treated with carbamazepine because of seizures. After two months of treatment, he developed a severe illness with skin rash, fever, hepatomegaly and hypogammaglobulinaemia. Since hypogammaglobulinaemia is a rare side effect of carbamazepine treatment, a stop order was given for carbamazepine. The abnormalities (skin, fever, hypogammaglobulinaemia) remained until it appeared that the patient had secretly continued taking the drug. When drug administration was stopped the skin abnormalities improved and serum immunoglobulin levels became normal. The etiology of this transient carbamazepine-induced hypogammaglobulinaemia is unknown.
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PMID:A man with a mysterious hypogammaglobulinaemia and skin rash. 1021 85

During cardiac surgery for transposition of the great arteries at age 7 weeks, a female infant received blood, fresh frozen plasma and platelet transfusions. Eleven days postoperatively, she developed bloody diarrhoea, fever, an erythematous macular rash, hepatomegaly, seizures and pancytopaenia. A clinical diagnosis of transfusion related graft-versus-host disease (GVHD) was supported by skin histopathology. DNA polymorphism studies confirmed that circulating lymphocytes in peripheral blood and infiltrating cells in the skin were foreign in origin and were derived from transfused blood cells. No underlying immunodeficiency was identified. Treatment with steroids cyclosporin and antithymocyte globulin was unsuccessful and death occurred 2 months after surgery. The features of fever, rash, diarrhoea, liver dysfunction and pancytopaenia which characterize GVHD may mimic drug reactions or viral infection. In addition to histological features on skin biopsy. DNA polymorphism studies on skin and blood samples provide a unique and sensitive method to confirm GVHD. Irradiation of blood products should be considered for acutely compromised infants requiring urgent cardiac surgery.
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PMID:DNA polymorphism analysis in transfusion-associated graft-versus-host disease. 1023 46

3-Hydroxy-3-Methylglutaryl coenzyme A lyase (HMG-CoA) deficiency is a rare inborn error of leucine catabolism. The disease is characterized by recurrent episodes of metabolic acidosis, hyperammonemia without ketosis, hypoglycemia, lethargy, hepatomegaly, and seizures. This study has evaluated the magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) findings of three patients with HMG-CoA deficiency. The common findings on all of the MRI scans were multiple, coalescent, marked lesions in periventricular white matter and arcuate fibers, most prominently in frontal or periatrial regions that were superimposed on diffuse, slightly hyperintense subcortical white matter signal. Involvement of the caudate nucleus and the dentate nucleus were observed in the reported patients. MRS studies by both STEAM and PRESS spectra of all patients revealed a decrease in N-acetylaspartate and elevation in both myoinositol and choline. A pathologic peak at 1.33 ppm, which is compatible with lactate, and a particular peak at 2.42 ppm in all patients were also found. The combination of both MRI and MRS findings could be considered as being specific in patients with HMG-CoA lyase deficiency.
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PMID:MRI and MRS in HMG-CoA lyase deficiency. 1037 84

The records of 20 children with imported malaria admitted to Kings County Hospital between October 1987 and May 1995 were reviewed. All had a history of recent travel or immigration from a malaria endemic area (West-Africa [16], Central-America [three], and the Caribbean [one]). None of the 10 children with a travel history received appropriate malaria chemoprophylaxis. The most common symptoms and signs were daily fever, chills, and hepatomegaly. Diagnosis was delayed in seven children who were initially felt to have pharyngitis or viral syndrome. Common laboratory findings were anemia and thrombocytopenia. P. falciparum was identified in 70% of the patients. Other species were P. malariae and P. vivax. Complications occurred in six children, hyponatremia in five, seizures in three, and cerebral malaria in one patient. The high incidence of chloroquine-resistant malaria makes chemoprophylaxis difficult in children. The clinical presentation of malaria is nonspecific, and diagnostic delays occur, so a high index of suspicion is needed in children with a travel history.
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PMID:Pediatric imported malaria in New York: delayed diagnosis. 1037 90

The clinical, biochemical, pathological and neuroradiological findings of a 2-year-old Saudi boy with infantile G(M1) gangliosidosis are reported. The patient had a progressive neurologic deterioration, manifesting with developmental regression, sensorimotor and psychointellectual dysfunction and generalized spasticity that started at 4 months of age. Cherry-red macula, facial dysmorphia, hepatomegaly, exaggerated startle response to sounds, skeletal dysplasia, and vacuolated foamy lymphocytes that contain finely fibrillar material in addition to lamellar membranes and electron-dense rounded bodies were seen. MRI of the brain demonstrated mild diffuse brain atrophy and features of delayed dysmyelination and demyelination. Brain FDG PET scan revealed a mild decrease in the basal ganglia uptake, and moderate to severe decrease in thalamic and visual cortex uptake, and an area of increased glucose uptake in the left frontal lobe, probably representing an active seizure focus. The functional changes indicated by FDG PET scan and the structural abnormalities shown on MRI were found to be complementary in the imaging evaluation of infantile G(M1) gangliosidosis.
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PMID:Cerebral fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography (FDG PET), MRI, and clinical observations in a patient with infantile G(M1) gangliosidosis. 1059 59

Type Ib glycogenosis is a rare glycogen storage disorder resulting from a defect in the enzyme, glucose-6-phosphatase microsomal translocase. We report a case of Type Ib glycogenosis in an 18 month-old male child who presented with a history of hypoglycemic seizures and recurrent infections and had a massive hepatomegaly, recurrent hypoglycemia, hyperuricemia, hypertriglyceridemia, neutropenia and fasting lactacidemia which decreased sharply on glucose administration.
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PMID:Type Ib glycogenosis. 1077 88


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