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)

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

An infant case of erythrophagocytic lymphohistiocytosis is reported. The disease began at the age of two months with hepatosplenomegaly and intractable fever, and later developed pancytopenia. Splenectomy had to be performed at the age of six months and led to the final diagnosis. After the age of nine months the patient developed progressive neurological signs (loss of visual function convulsions, opisthotonus and CSF pleocytosis). The changes in the CT-scan of the brain were explained by the neuropathologic findings after the death of the patient at the age of 13 months. The markedly atrophic brain showed diffuse and mainly perivascular infiltration of brain and meninges with lympho- and histiocytes and extensive microscopic calcification.
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PMID:Neurological and neuropathological findings in familial erythrophagocytic lymphohistiocytosis. 661 91

Clinical and radiological studies of seven patients with autosomic recessive malignant osteopetrosis are presented. Diagnosis was established before the age of 3 months in six cases and at 7 months in one. In all cases the presenting signs were pallor and hepatosplenomegaly with associated neurological involvement in five. All patients had normocytic normochromic anemia, leucopenia and thrombocytopenia with features of extramedullary hematopoiesis. Radiological studies revealed increase in the density of bones with "mask" appearance of facial bones and diminished size of optic foramina. Long bones showed absence of normal trabeculae and anomalies in modeling with methaphiseal bands and "bone within bone" images. There was hypocalcemia and hypophosphatemia with slight increases in alkaline phosphatase; parathormone was normal. Clinical course was characterized by progressive pancytopenia, recurrent infections and neurological deterioration with convulsions, nistagmus and optic atrophy. Five out of the seven patients died after a median of 3 months, due to infections or haemorrhage. The patient diagnosed at 7 months of age presented bilateral optic atrophy and moderate anemia; no other complications appeared after 2 year follow-up. Histological findings included substitution of bone marrow by chondro-osseous tissue; focal obsteoblastic and osteoclastic activity in calcified cartilage, and myeloid metaplasia in liver, spleen, lymph nodes and kidneys. The lesions are in agreement with the concept of a defect in bone formation-resorbtion balance; dysfunction of both osteoclasts and osteocytes is implicated in the pathogenesis. Unlike experimental disease, osteopetrosis in man is probably an heterogeneous disease and appropriate therapy should be individualized. Nevertheless, at present, the only favorable results have been obtained with bone-marrow transplantation.
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PMID:[Juvenile malignant osteopetrosis. Clinico-radiological study of 7 cases]. 663 10

In this paper we report a case of malignant lymphoma with neoplastic angioendotheliosis in the brain. A 44-year-old man with transient episodes of deafness, hypersomnia, and anorexia over a 5-month period acutely deteriorated. He presented with low grade fever, dementia, frontal lobe signs, general hyperreflexia, muscle weakness of the extremities, and ataxia. He did not have hepatosplenomegaly, lymph node swelling, or skin eruptions. On the 15th day after admission to the hospital he developed convulsions and died. Post-mortem examination revealed multiple infarcts in the central nervous system, especially in the bilateral cerebral white matter and basal ganglia, where mononuclear tumor cells were widespread within the lumens of small blood vessels, accompanied by lymphocytic infiltration and degenerative and occulsive changes of the vessels. Intravascularly in many visceral organs and in the adrenal glands, both intra- and extravascularly, proliferation of tumor cells was observed. Furthermore, a small nest of malignant lymphoma of diffuse mixed cell type was found in a para-aortic lymph node, and the lymphoma cells were identical to tumor cells observed in the brain and other organs.
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PMID:Malignant lymphoma presenting with neoplastic angioendotheliosis of the central nervous system. 685 Dec 98

Evaluation of 446 infants and young children (6 months to 5 years olds) with malaria parasitaemia showed a significant relationship (P < 0.05- < 0.001) (a) between coma and age, pattern of convulsions, haematocrit, and blood glucose, and (b) between the severity of parasitaemia and risk of convulsions, prevalence of hepatosplenomegaly, and severe anaemia. No significant relationship was observed between convulsions and temperature or haematocrit. Comatose children were older and had a higher prevalence of repeated convulsions, severe anaemia, and hypoglycaemia than non-comatose children. Convulsions, hepatosplenomegaly, and severe anaemia were more prevalent in children with moderate-severe parasitaemia. It is concluded that convulsions with malaria are more often a manifestation of cerebral dysfunction rather than being simply febrile in nature. All forms of cerebral dysfunction in malaria, including repeated convulsions, should be managed as being clinical manifestations of cerebral malaria.
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PMID:Convulsions with malaria: febrile or indicative of cerebral involvement? 813 57

We describe a four-week-old male infant with bilateral renal parenchymal malakoplakia who presented with low grade fever, convulsions and lethargy. The patient had profound anemia, hepatosplenomegaly and bilateral nephromegaly with reduced renal function. Both blood and urine cultures grew Escherichia coli, and antibiotic therapy was started. A kidney biopsy obtained on the 20th hospital day confirmed the diagnosis of renal parenchymal malakoplakia. Following treatment with an intravenous methylprednisolone pulse therapy, the infant made significant clinical improvement. He has grown and developed normally in the three years following this episode. We suggest that the steroid therapy was useful in ameliorating renal parenchymal malakoplakia in a patient without an underlying systemic disease. This report describes the youngest patient to have malakoplakia.
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PMID:Renal parenchymal malakoplakia in a four-week-old infant. 918 Dec 83

Of 4651 admissions between February 1995 and February 1996, 1043 had a presumed diagnosis of malaria. Six hundred and twenty-seven cases were confirmed by thick blood film examinations. The highest prevalence was in October (124/480 admissions) and the lowest in March (12/303). Sixty-five children died while 562 survived, 12 with defects. The first treatment in 422 children was chloroquine, in 143 quinine, in 59 halofantrin, and in three pyrimethamine with sulfadoxine (Fansidar). 23/422 patients started on chloroquine were switched to halofantrine, two to quinine. A higher mortality was associated with coma, convulsions, hepatosplenomegaly, pulmonary congestion, jaundice, haemoglobinuria, bladder paralysis, anuria. Anaemia and fever were more severe and hypoglycaemia more frequent in children who died than in children who survived (packed cell volume 18.5 +/- 7.1 per cent vs. 25.6 +/- 7.6 per cent, p < 0.001; temperature 39 +/- 1.1 degrees C vs. 38.7 +/- 0.9 degrees C, p < 0.05; random blood sugar < 40 mg/100 ml; 76 vs. 22 per cent, p < 0.01). There was no difference in the median age, pretreatment duration, and prevalence of diarrhoea and sickle cell disease. The male to female ratio was 1.5:1 in the surviving children vs. 1:1.03 in the dead.
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PMID:Malaria prevalence and outcome in the in-patients of the Paediatric Department of the State Specialists Hospital (SSH), Maiduguri, Nigeria. 960 1

This report concerns a 10-month-old boy, admitted to the Veterans General Hospital-Kaohsiung with generalized tonic convulsion and aspiration pneumonia. He was found to have had developmental regression, progressive hypotonia and hepatosplenomegaly since four months of age. Physical examination revealed a large head circumference (97th percentile), frontal bossing, depressed nasal bridge, hepatosplenomegaly, broad hands and short fingers. Neurologic examination showed poor control of eye movement, profound hypotonia, muscle weakness, brisk deep tendon reflexes and Babinski's sign. Hypoplasia of the vertebral bodies with anterior beaking, wedge-shaped metacarpals, spatulated ribs and a J-shaped sella turcica were displayed on bone radiographs. Cranial computerized tomography scans showed diffuse brain atrophy, dilated ventricles and calcification of the bilateral basal ganglia. Vacuolated lymphocytes were noted in a peripheral blood smear. Type 1 GM1 gangliosidosis was diagnosed based on a deficiency of beta-galactosidase activity. To our knowledge, basal ganglia calcification in type 1 GM1 gangliosidosis has never been reported in the literature. We suggest that type 1 GM1 gangliosidosis be considered in the differential diagnosis of patients with an early onset of neurologic decline, organomegaly and basal ganglia calcification.
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PMID:Type 1 GM1 gangliosidosis with basal ganglia calcification: a case report. 1006 11

A total of 405 cases of fever who were either admitted to the Hospital or attended in paediatric out patient Department or Emergency of Medical College Hospital, Calcutta between January '95 and November '95 were included in the study. Majority of cases presented with usual features of malaria like fever with chill and rigor, hepatosplenomegaly, pallor. Apart from these, complicated manifestations like shock, convulsion D.I.C and jaundice were also observed. Some unusual presentations with severe diarrhoea, dehydration and features like that of acute viral respiratory tract infection were highly confusing in terms of clinical diagnosis. P. falciparum was observed in 35.5% of cases. Overall therapeutic response to chloroquin was good, However, two patients died of cerebral Malaria. Five cases of severe malaria were caused by P. vivax however, other etiological features could not be found to attribute the severe nature of these illnesses.
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PMID:Resurgence of malaria in Calcutta in 1995: a hospital based study. 1038 10

Hemophagocytic lymphohistiocytosis is a rare and fatal disorder of early infancy, which affects predominantly the mononuclear phagocyte system and is characterized by the presence of fever, hepatosplenomegaly and cytopenia. Neurological symptoms can be extremely variable, ranging from irritability, and convulsions to focal neurological signs. They often develop during disease progression, but can also be the leading initial symptoms. Early diagnosis is mandatory, because new treatments, including bone marrow transplantation, appear to be promising. Here we present the clinical, neuroradiological and histopathological findings from two children with progressive CNS disease as the main clinical manifestation of hemophagocytic lymphohistiocytosis. Both children died and diagnosis was only obtained in retrospect after careful review of the histopathological material.
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PMID:CNS disease as the main manifestation of hemophagocytic lymphohistiocytosis in two children. 1500 52


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