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)

A girl presented at 6 weeks of age with failure to thrive and arching of the back. She had various dysmorphic features, hepatosplenomegaly, and developmental delay. The electroencephalogram and cranial ultrasound were abnormal, and a computed tomogram showed lissencephaly and apparent agenesis of the corpus callosum. Because of frequent aspiration she became oxygen dependent. She later developed intractable convulsions and died at the age of 9 months.
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PMID:Miller-Dieker syndrome with ring chromosome 17. 171 6

Eleven children were identified as being seropositive for HIV-1 at the Ethio-Swedish Children's Hospital, Addis Abeba, Ethiopia between January 1988 and September 1989. The diagnosis was confirmed by both ELISA and Western blot methods performed at the National Research Institute of Health, Special Laboratory for AIDS. The mean age was 2 years and 5 months, with a range of 1 week to 10 years. There were 7 boys and 4 girls. The most common admitting diagnoses were pneumonia (5), gastroenteritis (5), marasmus (5), disseminated tuberculosis (4), and abandonment (3). One patient had extensive facial molluscum contagiosum. Symptoms at admission or during hospitalization included diarrhoea (9), failure to thrive (8), fever (7), and cough (7). Physical findings included hepatosplenomegaly (5), lymphadenopathy (3), and oral candidiasis (2). No patient with an opportunistic infection or radiographic evidence of lymphocytic interstitial pneumonitis (LIP) was identified. Five patients were classified as marasmic and 4 as underweight. Evidence suggestive of encephalopathy (developmental delay and/or microcephaly) was present in 5 patients. The VDRL was non-reactive in the 5 patients in whom it was tested. Nine children were presumed to have acquired the infection by perinatal transmission, though the passive transfer of maternal antibodies or postnatally acquired infection could not be excluded. One child was thought to have acquired the infection by blood transfusion. Three children died during their hospital stay. Paediatric HIV infection exists in Ethiopia; however, these children do not present with characteristic opportunistic infections but with signs and symptoms reflecting the most common paediatric problems seen in the country. Prevention of HIV infection in children entails the prevention of infection in women of childbearing age, counselling of infected women, and effective screening of blood products.
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PMID:Clinical and epidemiological features of HIV-1 seropositive hospitalized Ethiopian children. 206 May 7

A female child of healthy, unrelated parents presented at 12 months of age with a history of moderately severe developmental delay, macrocephaly, dysmorphic facies, hypotonia, hepatosplenomegaly, mild generalized dysostosis multiplex, mucopolysacchariduria (dermatan and heparan sulfates), and Alder-Reilly bodies in peripheral blood leukocytes. Iduronate sulfatase activity in plasma was markedly depressed: 0.11 units/ml/h (normal, 1.75 +/- 0.56, N = 6). Analyses of arylsulfatases A, B, and C, heparan N-sulfatase, alpha-mannosidase, beta-mannosidase, beta-glucuronidase, beta-hexosaminidase, beta-galactosidase, and alpha-fucosidase activities in plasma, leukocytes, and/or cultured skin fibroblasts were all normal. Urinary sulfatide excretion was also within normal limits. Karyotypes of peripheral blood leukocytes and cultured skin fibroblasts were normal. Serum iduronate sulfatase activities in the parents were in the normal range (father, 1.63 units/ml/h; mother, 1.25 units/ml/h). The results of analyses of restriction fragment length polymorphisms (RFLP) of DNA from cultured skin fibroblasts with the use of probes for loci extending from Xpter to Xq28 showed X chromosome heterozygosity and confirmed the paternal origin of one of the X chromosomes. Studies on sulfur-35 uptake in mixed fibroblast cultures showed cross-correction of [35S]-glycosaminoglycan accumulation between cells from the patient and normal cells or cells from a patient with Hurler disease; however, there was no cross-correction between cells from the patient and those from boys affected with classical Hunter disease. This represents only the second confirmed case of Hunter disease reported in a karyotypically normal girl.
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PMID:Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl. 211 88

The predominantly heterosexual transmission of human immunodeficiency virus (HIV) in Africa suggests that pediatric acquired immunodeficiency syndrome (AIDS) could develop into a significant child health problem in this region. To assist clinicians in recognizing HIV infection in African children, the clinical features of 185 children with symptomatic HIV-related disease diagnosed at the 2 central hospitals in Harare, Zimbabwe, from April 1986-July 1987 were enumerated. In this period, 185 such cases were diagnosed. 83 (47%) involved children 0-12 months of age and another 61 (35%) represented children 13-24 months old. The male/female ratio was 1.0:1.03. The most frequently recorded clinical feature (52% of cases) was generalized lymphadenopathy, with or without hepatosplenomegaly. 45% of HIV-infected children presented with respiratory symptoms and pulmonary infiltrates on chest x-ray. Failure to thrive was present in 38% of cases. Also relatively common were hepatomegaly and splenomegaly (35% and 26%, respectively). Chronic, recurrent diarrhea was present in 21%. Less frequently observed (under 10% of cases) clinical findings were maculopapular eczematoid rashes, parotid swelling, chronic suppurative otitis media, chronic mucopurulent rhinitis, meningitis, and encephalopathy. 3 main clinical modes of presentation were identified--children with failure to thrive or marasmus in association with chronic diarrhea and developmental delay, those with generalized lymphadenopathy and hepatosplenomegaly, and children who present with chronic cough with pulmonary infiltrates on chest x-ray.
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PMID:Clinical presentation of symptomatic human immuno-deficiency virus in children. 226 23

A baby girl with coarse facial features, hepatosplenomegaly, and developmental delay had raised free sialic acid concentrations in her urine and cultured fibroblasts. She died aged 13 months. Sialic acid is an important constituent of many glycoproteins and glycolipids; impaired release from the lysosome may be the underlying biochemical defect.
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PMID:Sialic acid storage disease. 233 13

A case of sialuria is described in a girl who presented in the neonatal period with hepatosplenomegaly, and who has moderate developmental delay at the age of 2 years. There was massive urinary excretion of free sialic acid (N-acetylneuraminic acid). The clinical, biochemical and ultramicroscopical features were distinct from those described in Salla disease and in infantile sialic acid storage disorder.
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PMID:Sialuria: a second case. 244 58

A two-year-old boy presented with severe failure to thrive, developmental delay, anemia, hepatosplenomegaly, central cataracts, and dysmorphic features. Quantitative analyses of urinary organic acids revealed massive excretion of mevalonic acid, a metabolic precursor of cholesterol and nonsterol isoprenes: 46,000 to 56,200 mmol per mole of creatinine, as compared with 0.2 to 0.3 mmol per mole in normal children. The mevalonic acid concentration in plasma was also greatly increased at 440 mumol per liter (normal, less than 0.05). The activity of mevalonate kinase, the enzyme that catalyzes the first step in mevalonate metabolism, was severely deficient in the patient's fibroblasts, lymphocytes, and lymphoblasts. In the subsequent pregnancy of the patient's mother, gas chromatography-mass spectrometry demonstrated a marked elevation of mevalonic acid in the mother's urine and a 3000-fold elevation, as compared with control levels in the amniotic fluid, suggesting that the fetus was affected. The diagnosis was confirmed by demonstration of the deficiency of mevalonate kinase in amniocytes and ultimately in liver from the abortus. Intermediate activities of the enzyme in both parents indicated an autosomal recessive mode of inheritance. These observations identify an inherited disorder of cholesterol and nonsterol isoprene biosynthesis in humans.
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PMID:Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis. 301 38

We studied two cases of beta-glucuronidase deficiency. One patient's disease was present at birth and the other patient's disease appeared in early childhood. The symptoms observed in both patients, although of differing severity, included peculiar facies, cloudy cornea, hepatosplenomegaly, hernia, kyphosis, recurrent infections, short stature, and developmental delay, as well as increased excretion of urinary chondroitin sulfate A/C and decreased levels of beta-glucuronidase activity. We reviewed all of the reported cases and examined the biochemical and clinical heterogeneity observed in this disorder.
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PMID:Beta-glucuronidase deficiency. A heterogeneous mucopolysaccharidosis. 315 9

A case is presented with early-onset polyarthritis involving both large and small joints, prolonged fever, skin rash, hepatosplenomegaly, persistent cerebro-spinal fluid pleocytosis, brain atrophy, macrocephaly with ventricular dilatation, a persistently open fontanelle, lymphadenopathy, subcutaneous nodules, developmental delay, failure to thrive, persistent hypochromic microcytic anemia, leukocytosis with shift to the left, early thrombocytopenia followed by thrombocytosis, high erythrocyte sedimentation rate, elevated immunoglobulin level, and vasculitis involving several organs. Thirteen cases have been previously reported under different names. A unified name is needed; we suggest "infantile-onset arthritis and multisystem inflammatory disease."
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PMID:Infantile-onset arthritis and multisystem inflammatory disease: "a new syndrome". 355 12

A nine-month-old female Jamaican infant presented with a history of severe failure to thrive, recurrent pneumonia and developmental delay. She was found to have hepatosplenomegaly, generalised lymphadenopathy and hypotonia. Investigations revealed polyclonal hypergammaglobulinaemia, cytomegalovirus in her urine, and patchy lung infiltrates on her chest radiographs. Three separate tests were positive for human immunodeficiency virus in both the infant and her mother, suggesting vertical transmission, and confirming AIDS as the cause of the severe failure to thrive.
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PMID:AIDS in an infant causing severe failure to thrive. 366 67


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