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)

After her first grand mal seizure a 30-year-old woman was given a fructose infusion by an emergency doctor. On admission to hospital she complained of severe nausea. Ultrasonography revealed hepatosplenomegaly and the gamma-GT concentration was raised to 25 U/l. As hyperinsulinism was suspected an oral glucose tolerance test was suggested, but refused by the patient. She reported marked aversion to all sweet foods. Examination of an endoscopically obtained liver biopsy revealed clear reduction in fructoaldolase activity in liver tissue, i.e. the diagnosis of hereditary fructose intolerance. Three of the patient's siblings were also affected. The widespread use of infusion solutions containing sorbitol and fructose has twice proved acutely hazardous in this patient and is generally life-threatening for persons with an inborn error of metabolism whose pathologic status often remains undiagnosed to an adult age.
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PMID:[Adults with hereditary fructose intolerance: risks of fructose infusion]. 196 93

Tuberculosis continues to be a serious problem in public health even thought eh causative bacillus was discovered over 100 years ago. The authors present a clinical case that illustrates the current concern regarding the disease. The case concerns a child of emigrant parents, who are drug addicts and whose illness has not been fully ascertained. The child was hospitalised at three and an half months with fever, malnutrition, opisthotonos and hepatosplenomegaly. After the diagnosis of disseminated tuberculosis affecting the central nervous system, treatment was started with five antituberculosis drugs and with corticosteroids. Respiration improved favourably, but after 19 days the patient suffered a partial tonic-clonic seizure. Subsequently, hydrocephalus was observed and a shunt was applied. Bacteriological examination of the gastric aspirate showed a strain of Mycobacterium tuberculosis resistant to isoniazid and streptomycin. In the eight month of therapeutics, three antituberculosis drugs were still being administered, the shunt was still present and the patient showed a severe psychomotor retardation. The child belonged to a risk group and presented a serious form of tuberculosis with multidrug-resistance, illustrating that this group of children is particularly vulnerable and reflect transmission of this illness among adults.
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PMID:[Tuberculosis: a forgotten challenge]. 934 Oct 47

Parvovirus B19 is the etiologic agent of erythema infectiosum (fifth disease), a fever-rash illness occurring in childhood. We present a 10 month old child with high grade fever for 10 days, generalized tonic-clonic seizure, bilateral cervical lymphadenopathy, generalized maculopapular rash, hematemesis and malena. Bone marrow aspiration and liver biopsy were done. EBV serology and parvovirus PCR were also performed. Bone marrow aspiration and biopsy showed giant pro-erythroblast consistent with parvovirus infection. PCR showed amplification of parvovirus genomic sequences. Present case highlights an atypical presentation of Parvovirus B19 infection as fever, rash and hepatosplenomegaly.
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PMID:Seizure and hepatosplenomegaly-rare manifestation of parvovirus B-19: a case report and review of the literature. 2176 Aug 6