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)

Visceral leishmaniasis is an important public health problem in Libya, but its exact prevalence is not known. Prompted by the paucity of information in the literature relevant to Libyan children, we reviewed the records of 21 children treated at El-Fatah Children's Hospital, Benghazi between March 1982 and May 1990. Visceral leishmaniasis was diagnosed on the basis of the history, physical findings and confirmatory laboratory tests including examination of bone marrow. The duration of illness before seeking medical advice ranged from 3 months to 1.5 years. The commonest presenting features were fever, abdominal distension, anorexia with weight loss, hepatosplenomegaly and pallor. The consistent laboratory findings were anaemia with reticulocytosis and normal serum iron, neutropenia, thrombocytopenia, high ESR and hyperglobulinaemia. The bone marrow was positive for L. donovani in 86% of cases and the indirect haemagglutination test was positive in all patients. Bronchopneumonia was the most common complication and responded rapidly to antibiotics. All patients were treated with sodium stibogluconate 10 mg/kg/day. There were no major side-effects or complications of drug therapy. The relative paucity of cases and their late presentation may reflect a lack of awareness of the occurrence of visceral leishmaniasis by doctors in the community.
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PMID:Visceral leishmaniasis in Libya--review of 21 cases. 138 90

The second case of infantile Niemann-Pick disease was reported in a Thai newborn baby who presented with respiratory distress and hepatosplenomegaly from birth and who succumbed from bronchopneumonia 20 days later. Autopsy examination showed generalized accumulation of foam cells in reticuloendothelial organs. The parenchymal cells of visceral organs as well as neurones in the central nervous system also showed cytoplasmic vacuolization. Electron microscopic study demonstrated characteristic intracytoplasmic electron-lucent membrane-bound bodies. The histologic and ultrastructural findings were similar to those described in the literature.
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PMID:Niemann-Pick disease: a case report. 228 94

GM1 Gangliosidosis is an autosomal recessive genetic disorder due to deficiency of the lysosome enzyme beta-galactosidase, with consequent tissue accumulation of glycolipids, oligosaccharides, and especially GM1 ganglioside. In the present paper we report the clinical and laboratory findings obtained for eight families starting from eight index cases exhibiting the childhood form of the disease. The total number of cases in these families may be as high as 14, thus causing GM1 gangliosidosis to be the inborn metabolic error most frequently diagnosed in our service. Hypotonia, neuromotor retardation, hepatosplenomegaly, macrocephaly, and hydrocele are some of the most frequent clinical findings. The disease evolves towards convulsions and bronchopneumonia, leading to patient death generally during the first half of the second year of life. The presence of vacuolated lymphocytes, alterations of the lumbar vertebrae, and cherry spots on the retina were observed in almost all patients. When tested for inborn metabolic errors, all patients gave normal results, a fact that may have confused and delayed diagnosis. Diagnosis was made by urine oligosaccharide chromatography and confirmed by beta-galactoside measurement in peripheral blood leukocytes. This method proved to be accurate also for the detection of heterozygotes, which permitted post-mortem diagnosis in two families. The authors speculate that increased fetal loss and tendency towards macrosomy may be possible characteristics of the disease, suggest that testing for vacuolated lymphocytes be used as a screening method, and propose that urine oligosaccharide chromatography be included in the routine screening for inborn metabolic errors.
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PMID:GM1 gangliosidosis: clinical and laboratory findings in eight families. 392 30

A 12-month-old infant developed bilateral facial paresis 4 weeks following a febrile illness associated with tonsillitis, bronchopneumonia and hepatosplenomegaly. Complement fixing antibody titer to Mycoplasma pneumoniae was 1:128, which subsequently dropped to 1:16. The clinical presentation in our patient was unusual in that he developed bilateral facial palsy at a very young age, and there was also a possible association of the palsy with Mycoplasma infection.
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PMID:Bilateral Bell's palsy due to Mycoplasma pneumoniae infection. 404 36

A small outbreak of louse-borne relapsing fever in Khartoum (May-June 1974) provided material for a clinico-pathological study. The history of the disease in the Sudan is reviewed and the clinical and laboratory findings in 32 patients are presented. Fever, headache, jaundice, epistaxis and hepatosplenomegaly were the commonest clinical findings; thrombocytopenia was detected in 93% of cases. Although elevated levels of fibrin degradation products were found in most patients, disseminated intravascular coagulation could not be diagnosed. Hepatocellular derangement was found in 68% of cases, while 78% had high blood urea. In five autopsied bodies there was bronchopneumonia, interstitial edema with focal myocardial fibrosis, hepatic necrosis, splenic infarcts, increase in size and cellularity of the glomeruli and brain edema and congestion. Intracranial haemorrhage was found in three of the autopsied cases.
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PMID:Louse-borne relapsing fever in the Sudan. A historical review and a clinico-pathological study. 742

The diagnosis and management of childhood visceral leishmaniasis were studied in 51 parasitologically proven cases from Abha, Saudi Arabia. Bone marrow aspiration was positive in 40 of 47 cases (85%). Splenic aspiration, though rarely used because of perceived dangers, was not associated with complications and revealed the parasite in all 12 cases in which it was used. There was prompt response to sodium stibogluconate, with defervescence in 93% and decrease of hepatosplenomegaly in 67% of patients within 1 week of commencing chemotherapy. A dose of 20 mg/kg/day for at least 3 weeks was generally safe and effective in achieving cure and preventing relapse. Two children with persistent massive splenomegaly after the first course responded to prolonged chemotherapy. Bronchopneumonia and severe cytopenia were common complications. Disseminated intravascular coagulation and hepatitis were associated with a poor outcome. The four patients who died had a progressive course with multiple complications. Early detection and appropriate management of complications may help to reduce morbidity and mortality in childhood visceral leishmaniasis.
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PMID:Diagnostic and management problems in childhood visceral leishmaniasis in south-western Saudi Arabia. 751 38

The records of 52 children with Niemann-Pick disease type C were reviewed to establish whether the disease process and outcome varied with the initial clinical pattern; 34 children (65%) had cholestatic liver disease and hepatosplenomegaly in infancy; 18 were seen at a mean age of 4 years with splenomegaly or neurologic disease or both. Of the 34 children with early cholestatic liver disease, three died in the neonatal period; cholestasis and hepatomegaly subsided in the remaining 31 children, although splenomegaly persisted. Of these 31 children, 15 had persistent liver disease with elevated aminotransferase values. Serial liver biopsy specimens showed that 3 of the 15 children had normal architecture and 12 had hepatic fibrosis, with progression to cirrhosis in 5. No other significant morbidity or additional deaths were associated with the liver disease. The clinical importance of persistent liver disease was overshadowed by the subsequent development of severe neurologic disease. There was no difference in the age at onset of the disease (mean, 4.5 years) or in the pattern of neurologic disease, including supranuclear ophthalmoplegia, whether or not the child had early liver disease. Overt neurologic disease has not yet developed in seven surviving children with liver disease at onset. Sixty-seven percent of children died during the study; the main cause of death was bronchopneumonia. We conclude that the diagnosis of Niemann-Pick disease type C should be considered in patients with unexplained neonatal hepatitis, especially if splenomegaly is a persistent feature. Because liver biopsy specimens may not demonstrate storage cells, bone marrow aspiration to detect the characteristic storage cells is recommended in such patients.
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PMID:Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease. 815 88

During a 16-month period children presenting to a pediatric outpatient facility from an area with a high tuberculosis incidence (> 400/100,000) and suspected of having respiratory tuberculosis (TB) were evaluated for close contact with adult pulmonary tuberculosis, weight loss, symptom duration, respiratory signs, lymphadenopathy and hepatosplenomegaly and by chest radiography and tuberculin testing (Mantoux or tine). Probable tuberculosis was diagnosed in 258 children and was confirmed in 109 (42%) patients with a mean age of 31 months by culture of Mycobacterium tuberculosis from gastric aspirate or another source. Eleven children with confirmed TB had a normal chest radiograph. After review of special investigations, clinical course and follow-up of the remaining 149 children, 86 children (58%) with a mean age of 32.4 months were considered to have probable TB and 63 (42%) with a mean age of 27 months not to have TB. Significantly fewer children in the "not TB" group than in the confirmed and probable TB groups had a close adult pulmonary tuberculosis contact (13 (21%) and 95 (49%), respectively; P < 0.01). There was no difference between the "not TB" group and the confirmed and probable TB groups in the proportion presenting with weight loss, cough or other respiratory symptoms, a symptom duration > 2 weeks, the presence of bronchial breathing, wheeze, hepatomegaly or splenomegaly or peripheral lymphadenopathy. Final diagnoses in the "not TB" group included bacterial or viral pneumonia or bronchopneumonia in 37, asthma often accompanied by segmental collapse in 9 and cavitating pneumonia in 3 children.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Respiratory tuberculosis in childhood: the diagnostic value of clinical features and special investigations. 776 Nov 83

We describe a 10 month old boy with alpha-mannosidosis who presented with recurrent bronchopneumonia and diarrhea. Facial coarsening, deafness, hepatosplenomegaly, umbilical hernia, pectus carinatum and widespread Mongolian spots were distinguishing features. He also had mild skeletal deformities grouped together as 'dysostosis multiplex', and vacuolated lymphocytes on peripheral blood smear. These findings coupled with an abnormal urinary oligosaccharide pattern led to the suspicion of a lysosomal storage disease in the patient which proved to be alpha-mannosidosis. An exceptionally low level of alpha-mannosidase activity was subsequently found in serum and cultured skin fibroblasts. The patient's brother, who had died at the age of 10 months, had similar features. To the best of our knowledge, this is the first case reported from Turkey.
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PMID:Alpha-mannosidosis: the first Turkish case. 779 63

We describe 3-year clinical course of a 54-year-old Japanese man who presented with action myoclonus, parkinsonism and epilepsy. There was no family history or consanguinity. The patient was well until the age of 51 years (in 1986), when he noted slow movements, memory disturbance and left hand tremor. He was treated with anti-Parkinson drugs without any improvements. Soon thereafter, he developed a gait disturbance and generalized tonic clonic seizures. He was admitted to our service at the age of 53 years. General physical examination revealed no hepatosplenomegaly. Neurological examination showed mild dementia. Neither retinal pigmentation nor cherry red spot was noted. He was unable to walk due to marked frozen gait. His upward gaze was limited and saccadic eye movement was slow. He had action myoclonus in both upper extremities and resting tremor on the left side. He showed mild left hemiparesis. Deep tendon reflex was hyperactive in both side with extensor plantar responses. MRI demonstrated cortical atrophy, especially marked at the bilateral temporal lobes with a right side predominance. Leukocyte lysosomal enzyme activities of beta-hexosaminidase, beta-galactosidase and sialidase were within normal limits. The patient died of pneumonia on April 25, 1989. At the time of a neurological CPC, neurologists reached the clinical diagnosis of adult-type neuronal ceroid-lipofuscinosis. Postmortem examination revealed bilateral bronchopneumonia. The brain weighed 1,219 g and showed atrophy of the temporal lobes. Histological examination showed neuronal cells with swollen cytoplasm and lipofuscin-like granules throughout the CNS, including the cerebral cortex, thalamus, substantia nigra, motor nuclei of the brain stem, dentate nuclei, inferior olivary nuclei. Clarke's nuclei and anterior horn cells. Marked neuronal loss was noted in the right temporal lobe and substantia nigra. Electron micrographs of the frontal cortex revealed "fingerprint profiles" in the cytoplasm of neuronal and glial cells. Pathological findings were consistent with the diagnosis of adult-type neuronal ceroid-lipofuscinosis (Kufs' disease).
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PMID:[A 54-year-old man with action myoclonus, parkinsonism and epilepsy]. 1058 20


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