Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of tyrosinemia in a three-month-old boy is presented. The patient appeared jaundiced initially with markedly elevated levels of serum tyrosine and a positive Millon-reacting urine. Jaundice persisted and hepatosplenomegaly gradually increased. He died due to liver failure on the 51st day after admission. At autopsy, the liver showed the features of severe giant cell hepatitis including giant cell formation, fibrosis and bile retention. The pancreas and the brain showed characteristic postmortem findings as previously reported in patients with tyrosinemia.
 ...
PMID:Tyrosinemia. 46 58

In schistosomiasis mansoni, the pathogenesis of hepatosplenic disease has been shown to be due primarily to immune mechanisms. The present study was designed to examine the relationship between the development of schistosomal hepatosplenomegaly in Egyptian school children and the HLA antigens. Two groups of schistosome-infected children with similar fecal egg counts were examined: one group (23 children) had no clinically demonstrable hepatosplenomegaly whereas all the children (28) in the second group suffered from liver enlargement. Furthermore, 13 of the 28 individuals in the latter group had splenomegaly as well. Our results show that hepatosplenomegaly was related to the presence of two HLA antigens: HLA AI and B5. The average relative risk of developing hepatomegaly is 29 for HLA AI and 18.9 for 55.6. Furthermore, the severity of hepatomegaly was correlated with the presence of these two HLA antigens. These findings represent a step toward elucidating the factors controlling the pathogenic mechanisms in human schistosomiasis mansoni.
 ...
PMID:Histocompatibilty-linked susceptibility for hepatospleenomegaly in human schistosomiasis mansoni. 47 1

Angio-immunoblastic lymphadenopathy (AIL) is a disease of unknown aetiology and pathogenesis. It has features of hyperimmunity, immune deficiency and can behave like a malignant lymphoma. An underlying abnormality of T-cell regulatory function has been proposed. We report ten patients with AIL followed prospectively and review 200 cases from the literature. As well as showing the typical features described in previous retrospective series namely: constitutional symptoms, generalized lymphadenopathy, hepatosplenomegaly, skin eruptions, hypergammaglobulinaemia and characteristic lymph node histology; four patients had oedema with ascites or pleural effusions associated with hyponatraemia and hypoalbuminaemia. We have also observed low free thyroxine indices in three patients with elevated TSH levels in two, but without clinical features of hypothyroidism. Seven of the patients in this study were treated with prednisone and cyclophosphamide. Three achieved complete remission but only one patient has survived longer than two years. Failure to achieve complete remission has been associated with a 90 per cent mortality within one year of the onset of disease in the reports reviewed. Corticosteroids alone have produced only a 40 per cent rate of remission. The management of poor responders, non-responders and many relapse cases in unsatisfactory. More instensive chemotherapy is very hazardous, increasing the already high risk of severe infections, and is often unsuccessful. Histological features recently reported to represent co-existent immunoblastic lymphoma at diagnosis were recognized in three of our patients, two of which went on to develop definite lymphoma.
 ...
PMID:Angio-immunoblastic lymphadenopathy: report of ten cases and review of the literature. 48 88

A 36-year-old man was admitted to Saitama Medical School Hospital, because of a remittent fever which had continued for approximately 6 months, hepatosplenomegaly and lymphadenopathy. He had direct Coombs' test positive auto-immune hemolytic anemia associted with subacute bacterial endocarditis (SBE). The lymphnode demonstrated focal diffuse proliferation of immunoblasts and arborizing vessels with a few small germinal centers, which resembled histological features of the immunoblastic lymphadenopathy. The immunochemical analysis revealed the presence of free IgG Fc fragments in serum. From the above results the patient was diagnosed as immunodysplasia syndrome (IDS) and heavy chain disease (HCD) associated with SBE. It was suggested that the chronic antigenic stimulation due to SBE might have some role in the mechanism of the development of the IDS and HCD in our patient.
 ...
PMID:A case report of the immunodysplasia syndrome and heavy chain disease associated with subacute bacterial endocarditis. 48

Niemann-Pick disease type B was diagnosed clinically and enzymatically in a 4 years old girl presenting with hepatosplenomegaly, diffuse interstitial infiltrations of both lungs on chest roentgenograms, and foam cells in the bone marrow aspirate. Intelligence and neurological examinations were normal. Spingomyelinase activity was almost totally deficient in leukocytes and cultured skin fibroblasts. Unexpectedly, fundoscopy revealed oculo-neural involvement with a reddish-brown spot of the macula comparable to but differing in some respects from the classic cherry-red spot found in neurolipidoses. By definition patients with type B Niemann-Pick disease should have no cerebral or oculo-neural involvement. Two comparable cases have been described in the literature. The prognosis of this special type is not yet known. For classification--and especially for genetic counselling--it seems important to include the possibility of oculo-neural involvement in the diagnosis of Niemann-Pick disease type B.
 ...
PMID:Oculo-neural involvement in an enzymatically proven case of Niemann-Pick disease type B. 49 62

A study of 3451 cholesterol determinations in different diseases was carried out. The mean cholesterol levels for male and female adults and children with different diseases were compared with values for their healthy counterparts. Sickle cell anemia, leukemia, liver cirrhosis, hepatosplenomegaly, tuberculosis, and diabetic, nutritional, ataxic, and tropical neuropathies in male and female adults were associated with reduced cholesterol level while in children malnutrition and anemia were the main causes of low cholesterol levels. Obesity and hypertension caused an elevated level but the mean values were within the range for adult Nigerians in the high income group. Only nephrotic syndrome in both adult and children was associated with a markedly increased cholesterol level in Nigerians of low income status.
 ...
PMID:Serum cholesterol and diseases in Nigerians. 50 76

A Mexican-American boy presented at birth with an extensive eruption consisting of 0.5 to 1.0 cm hyperpigmented macules with a distinct peripheral scale involving primarily the forearms, abdomen and lower back (Fig. 1). Rare intact vesicopustules were also identified. There was an unremarkable prenatal history, and the infant was a product of a normal vaginal delivery. With the exception of the skin lesions and moderate hepatosplenomegaly, the physical examination was normal. Gram stains of the pustules showed numerous neutrophils but no bacteria. Bacterial cultures, of the skin and blood, TORCH screen (toxoplasmosis, rubella, cytomegalic virus, and herpes virus) and a VDRL were negative. On the second day of life, the patient developed several pustules with surrounding erythema consistent with erythema toxicum neonatorum. Wright-stained smears of these lesions showed abundant eosinophils. Hepatosplenomegaly resolved by the third day of life and at the time of discharge only hyperpigmented macules persisted. Follow-up visit six weeks later showed no evidence of skin lesions.
 ...
PMID:Transient neonatal pustular melanosis. 51 27

A case of immunoblastic lymphadenopathy which underwent transformation into immunoblastic sarcoma is reported. A 64-year-old man presented with a rash, generalised lymphadenopathy, and hepatosplenomegaly. A cervical lymph node removed at biopsy showed the features of immunoblastic lymphadenopathy with the presence of heavy chain classes IgG, IgM, and IgA and both kappa and lambda light chain types in the cytoplasm of the immunoblasts. No such immunoglobulins could be demonstrated in the lymph nodes obtained at necropsy when the patient died of widespread immunoblastic sarcoma. The biological evolution and histogenesis of the disease are discussed and the current literature is reviewed.
 ...
PMID:Immunoblastic lymphadenopathy: evolution into immunoblastic sarcoma. 51 27

A 3 6/12 years old girl with micromelic type of spondylo-meta-epiphyseal dysplasia combined with hepatosplenomegaly and muscular hypotonia is described.
 ...
PMID:[Micromelic type of spondylo-meta-epiphyseal dysplasia (author's transl)]. 51 76

The non-neuropathic form of Gaucher's disease was diagnosed in 11 children of non-Jewish ancestry in South Africa; all were under the age of 4. None had any neurological involvement and, apart from the precocious presentation and rapid course, the features in each resembled those of the classical 'adult' or chronic non-neuropathic form of Gaucher disease. By contrast, the condition presented after puberty in 24 out of 28 Ashkenazi Jews who were studied during the same investigation. Activity of beta-glucosidase was defective in both groups of patients and they could not be distinguished by histological criteria. Only one child with the infantile neuropathic form of Gaucher disease was identified during the survey. The preponderance of the atypical non-neuropathic form of the disorder in young children is of practical importance from the point of view of differential diagnosis in any child with hepatosplenomegaly.
 ...
PMID:Non-neuropathic Gaucher disease presenting in infancy. 51 9


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>