Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 50-year-old man presented with abdominal pain followed by marked liver and renal dysfunction. Although liver scan appearances were not diagnostic, at laparotomy a tense, enlarged liver was found with thrombosis of the inferior vena cava. Despite full supportive measures the patient died within a month of laparotomy. Subsequent necropsy confirmed the diagnosis of Budd Chiari syndrome and revealed the primary cause to be a myosarcoma of the right atrium, an occurrence hitherto unreported.
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PMID:Budd Chiari syndrome from myosarcoma of right atrium. 51 45

A case of aneurysm of the great vein of Galen was reported in which craniotomy and clipping of a feeding artery arising from the left posterior cerebral artery was successfully performed. This 5-month-old girl developed progressive hydrocephalus from 2 months after birth. At 5 months the head circumference was 50 cm with tense enlarged fontanelle. Both eye balls were deviated downward. The deep tendon reflexes were hyperactive with bilateral ankle clonus and positive Babinski's sign. Mild cardiomegaly and hepatomegaly were also noted. Cerebral angiograms showed a large aneurysm of the great vein of Galen fed by a single enlarged arterial branch from the left posterior cerebral artery. After the evaluation of systemic circulatory status and under strict control of fluid transfusion craniotomy was performed. The feeding artery was clipped at its entrance to the aneurysm via left parieto-occipital interhemispheric approach. A rise in the mean arterial blood pressure of 20 mmHg was observed immediately following clipping. The postoperative course was satisfactory except for a left subdural fluid collection which required subduro-peritoneal shunt. The aneurysm was completely disappeared on the postoperative angiograms and the child is regaining the normal development. This is the first case of aneurysm of the great vein of Galen successfully operated in Japan. Clinical symptoms and signs, radiological features and operative treatment of the disease were reviewed from a total of 46 cases reported in the world literature.
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PMID:[Aneurysm of the great vein of Galen--report of a case (author's transl)]. 98 98

We studied a case of severe infantile mucolipidosis that fell within the clinical spectrum of mucolipidosis I. A 2,100-g girl was delivered by cesarean section at 30 weeks' gestation, after the development of polyhydramnios. Tense ascites and hepatomegaly were present at birth and persisted until her death at age 4 months. Although she was growth retarded, no dysmorphic features were evident. Mucopolysacchariduria was absent, and no lysosomal enzyme deficiencies were identified in cultures of fibroblasts. N-acetyl neuraminidase was not included in the assay. Excessive intracellular accumulation of material within membrane-bound vacuoles was demonstrated in all tissues examined by light and electron microscopy. This material had histochemical and ultrastructural characteristics of both mucopolysaccharides and lipids. The placental trophoblasts, hepatocytes, neurons, glomerular epithelium, and mononuclear phagocytes were most affected.
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PMID:A severe infantile mucolipidosis. Clinical, biochemical, and pathologic features. 668 32

A retrospective was designed to analyse the mode of presentation, clinical signs and haematological and biochemical abnormalities in 225 consecutive Black (Zulu) patients who were admitted to a general medical ward between the years 1970 and 1981 and in whom cirrhosis was later diagnosed. The most common presenting complaint was swelling of the body (60% of the patients), followed by abdominal pain (32%) and episodes of bleeding, mainly from the gastrointestinal tract (19%). On examination, hepatomegaly was encountered in 66% of the patients, with moderate to massive enlargement in 40%. Ascites was detected in 56%, with tense abdominal distension in 34%. Jaundice was present in 38% and emaciation, mental disturbance and splenomegaly in over 25%. Spider naevi (found in 2 patients) and Dupuytren's contracture (found in 1) were very rare. Thrombocytopenia and a high ESR were common. Over 90% of patients had low albumin and high globulin concentrations (albumin less than 20 g/dl and globulin greater than 60 g/dl in 25%). Bilirubin and alkaline phosphatase levels and the prothrombin index were found to be within normal limits in 32%, 24% and 52% of cases respectively. Histologically the lesion was most commonly micronodular (73%) with variable deposits of fat and iron. Peritoneoscopy was the most useful special investigation in the diagnosis of cirrhosis, leading to a correct diagnosis in 77% of cases. In conclusion, the clinical signs, biochemical abnormalities and histological features suggest that the factors causing cirrhosis in the community studied are mixed; it may result from the combined effects of alcohol abuse, malnutrition and chronic viral (e.g. hepatitis B) infections.
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PMID:Clinical presentation and biochemical abnormalities in black (Zulu) patients with cirrhosis in Durban. 707 88

A retrospective study of 42 newborns who were admitted to the Hospital Universiti Sains Malaysia for spontaneous bleeding and prolonged prothrombin and partial thromboplastin times during 1987-1988 was conducted to determine the epidemiology, clinical features, laboratory findings, treatment, and outcome of hemorrhagic disease of the newborn (HDN). The infants came from households in the rural state of Kelantan. In Kelantan, the estimated overall annual incidence of severe HDN was 1/1900 live births. None of the infants had bleeding due to inherited coagulopathy or disseminated intravascular coagulation. The categories of HDN were classical HDN (48%), early onset HND (29%), and late onset HND (24%). The most frequent clinical manifestations of HDN were pallor, jaundice, umbilical cord bleeding, tense fontanelle, convulsions, and hepatomegaly. 81% of the infants were delivered at home. Only 7 infants received vitamin K at birth. Anemia was common, especially in cases with massive intracranial bleeds. Most intracranial hemorrhages were subdural hemorrhages. The mothers of all infants, except one, breast fed. All infants received intravenous vitamin K at an initial dose of 1-5 mg/daily, which returned the prolonged prothrombin time and partial prothrombin time to normal. 33 infants recovered completely. One infant with classical HDN was mentally retarded and had hydrocephalus. Another infant also with classical HDN was mentally retarded. The overall case fatality rate was 14%. The case fatality rate for late HDN was 30%. These findings stress the importance of vitamin K prophylaxis in the newborn.
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PMID:Haemorrhagic disease in newborn and older infants: a study in hospitalized children in Kelantan, Malaysia. 782 97

A 50-year-old woman with end-stage renal disease secondary to autosomal dominant polycystic kidney disease was referred to a quaternary care center due to significantly increased abdominal girth. Her physical examination revealed tense ascites and abdominal collateral veins. A 10-L paracentesis improved abdominal discomfort and disclosed a transudate, suggestive of portal hypertension. A computed tomographic scan revealed massive hepatomegaly caused by multiple cysts of variable sizes, distributed throughout all hepatic segments. Contrast-enhanced imaging uncovered extrinsic compression of hepatic and portal veins, resulting in functional Budd-Chiari syndrome and portal hypertension. Although image-guided drainage followed by sclerosis of dominant cysts could potentially lead to alleviation of the extrinsic compression, the associated significant risk of cyst hemorrhage and infection precluded this procedure. In this scenario, the decision was to submit the patient to a liver-kidney transplantation. After 1 year of this procedure, the patient maintains normal liver and kidney function and refers significant improvement in quality of life.
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PMID:Functional Budd-Chiari Syndrome Associated With Severe Polycystic Liver Disease. 2861 33