Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023890 (cirrhosis)
 42,195 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Urine samples from members of 29 families of patients with Indian childhood cirrhosis (ICC) and nine families with related disorders gave positive reactions when tested with ferric chloride. Column chromatography showed that this was due to the presence of abnormally large amounts of tryptophan metabolites, notably 3-hydroxyanthranilic acid. Affected pedigrees had a significantly greater prevalence of peptic ulcer, adult cirrhosis, diabetes mellitus, migraine, and Parkinsonism than a control population. ICC may result from an inborn error of tryptophan metabolism in susceptible ethnic groups.
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PMID:Indian childhood cirrhosis: an inherited disorder of tryptophan metabolism? 69 56

Fourteen cases of Wilson's disease in Thais were studied retrospectively. Most were in the second and third decades. The hepatic form occurs in all age groups and the most common presentation was cirrhosis and complications. Neurological complications were observed during the second decade and consisted of Parkinsonism, dystonic and pseudosclerotic forms. A Keyser-Fleisher ring was detected in 2/3 of the cases. D-penicillamine was the mainstay of our therapy. Death in this series was related to crisis such as acute hemolysis, hepatitis as well as septic complications of cirrhosis. Since Wilson's disease is a treatable and preventable disorder, early clinical diagnosis and screening of asymptomatic siblings is mandatory.
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PMID:Wilson's disease. 150 90

Wilson's Disease is an inherited disorder of copper metabolism. We report 16 patients (6 males) with the disease; 6 had hepatic involvement exclusively, 4 had neurological involvement, 3 had a neurological and hepatic involvement and 3 were asymptomatic. The age onset was 9 years for hepatic and 17 years for neurologic involvement. The mean delay in diagnosis was 14 months. Chronic hepatitis, cirrhosis and fulminant hepatic failure were the clinical forms of liver disease. Patients with neurologic disorders had behavioral disturbances and extrapyramidal manifestations such as dystonia and parkinsonism. Patients had a good response to penicillamine, except 3 that died of liver complications, in whom the treatment was delayed or discontinued. We conclude that this metabolic disease must be suspected in pubertal children and in adults of less than 30 years old with liver disease of unknown origin or behavioral alterations associated to an extrapyramidal syndrome.
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PMID:[Wilson's disease: a review apropos of a clinical experience in 16 patients]. 872 33

Ten patients with refractory chronic subdural hematoma were the subjects of this paper. All patients had severe diseases influencing the clinical course of chronic subdural hematoma, such as cerebral infarction, liver cirrhosis, thrombocytopenia, severe parkinsonism, severe heart disease, and spino-cerebellar degeneration. They were first treated in a usual manner; irrigation and drainage of the hematoma cavity. After recurrence of the hematoma, an Ommaya CSF reservoir was put into place and whenever the volume of the hematoma increased the reservoir was punctured. Postoperatively, 7 patients returned to the same conditions as they had before the onset. However, one patient died of myocardial infarction and 2 patients with parkinsonism could not maintain the condition they had before the onset of their disease, resulting in their partially dependent state. Complications were minor bleeding in one patient and an occlusion of the reservoir in another patient. By using this method reoperation was unnecessary, and the patients were able to move early in the post-operative period. This method was suitable for refractory chronic subdural hematoma with severe disease influencing its clinical course.
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PMID:[Use of Ommaya CSF reservoir for refractory chronic subdural hematoma]. 1034 46

Progressive myelopathy is a rare complication of chronic hepatic disease which has never been reported in the paediatric age group. We describe the 11 year course of an adolescent male with hepatic myelopathy caused by cryptogenic micronodular cirrhosis. His condition has been associated with persistent polycythaemia and extraordinary increases of whole blood manganese, with magnetic resonance imaging evidence of manganese deposition within the basal ganglia and other regions of the brain. The patient has developed neither liver failure nor parkinsonism. The pathophysiological bases of this multiorgan system disorder are described.
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PMID:Paraparesis, hypermanganesaemia, and polycythaemia: a novel presentation of cirrhosis. 1104 Jan 56

This is a presentation of a clinical case of Wilson s disease. The patient is a 26 year old woman who began to evidence psychological symptoms, which were later accompanied by neurological manifestations such as asymmetrical hand tremor, parkinsonism, dystonia and later on, dysphagia and mutism. The ophthalmological examination found a Kayser Fleischer ring in Descemet s membrane. There was disturbance of copper metabolism documented with reduction of serum ceruloplasmin and increase of the urinary excretion of copper. Cirrhosis was demonstrated through laparoscopy and liver biopsy. The brain magnetic resonance showed frontotemporal atrophy and a degenerative process at the basal ganglia, cerebellum and brain stem. This information could suggest probable neuropsychiatric physiopathology. The stenosis and intense cervical dysphagia, associated with the crycopharyngeal membrane, has not been mentioned previously.
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PMID:[Wilson'S disease: dominant neuropsychiatric form. Case presentation and its physiopathologic interpretation based upon magnetic resonance of the encephalon]. 1196 71

Pallidal hyperintensity at magnetic resonance imaging (MRI) correlates to blood manganese (Mn) levels and parkinsonian signs in patients with cirrhosis. Similarly, metabolite changes in the basal ganglia (BG) at proton spectroscopy are related to these neurological signs. The evolution of these abnormalities after liver transplantation (OLT) is incompletely described. We evaluated 14 unselected consecutive patients with cirrhosis (minimal hepatic encephalopathy [HE] n=8, no HE n=6) before and 4 months after successful OLT for the evolution of parkinsonism using a validated scale (the United Parkinson's Disease Rating Scale, or UPDRS). Pallidal intensity at MRI, spectroscopic changes in the BG at magnetic resonance spectroscopy (MRS), and whole blood manganese concentrations were measured. After OLT in patients with preoperative minimal HE, the UPDRS scores improved, but mild parkinsonism persisted (16.1+/-3.6 to 6.2+/-4.8, P<0.05). Pallidal hyperintensity remained abnormal in 5/8 of cases, but spectroscopic changes normalized in all patients. Blood Mn remained elevated in 4/6 patients. In patients without HE, UPDRS values remained negligible (2.42+/-1.5 to 2.5+/-1.4). Pallidal hyperintensity normalized in 7/8 patients and spectroscopic changes normalized in all patients. Blood Mn remained elevated in 5/6 patients. Four months after successful OLT, patients with preoperative minimal HE and severe pallidal hyperintensity showed persistent mild parkinsonism. The role of blood manganese determination appears limited in the monitoring of MRI and parkinsonian signs changes after OLT.
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PMID:Persistence of mild parkinsonism 4 months after liver transplantation in patients with preoperative minimal hepatic encephalopathy: a study on neuroradiological and blood manganese changes. 1197 41

We report two patients with chronic acquired hepatocerebral degeneration (CAHD) who showed neurological and radiological improvement after the administration of branched-chain amino acids (BAA). The first patient with chronic hepatitis C presented with progressive parkinsonism for 7 months, whereas the second patient with liver cirrhosis presented with progressive ataxia for 15 months. T1-weighted magnetic resonance imaging (MRI) showed symmetric high intensity signals in the lenticular nuclei in both patients. In the first patient, single photon emission computed tomography (SPECT) disclosed a marked decrease in cerebral blood flow in the parieto-occipital regions. In the second patient, T2-weighted MRI demonstrated symmetric high intensity signals in the deep cerebral and cerebellar white matter. After the administration of BAA, their neurological signs and radiological abnormalities markedly improved in both patients. CAHD might be a reversible and treatable disorder where aromatic amino acids are deeply involved in its pathogenesis.
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PMID:Clinical and neuroradiological improvement in chronic acquired hepatocerebral degeneration after branched-chain amino acid therapy. 1210 Mar 72

Basal ganglia bilateral symmetric hyperintensity in T1-weighted sequences at magnetic resonance imaging (MRI) is recognized to be due to the presence of manganese deposits. This abnormal finding has been reported in occupational exposures, liver cirrhosis and total parenteral nutrition with unbalanced solutions. However, the same imaging is often observed "by chance" in brain MRIs of patients not belonging to these groups. In order to better understand which are the clinical conditions coexisting with such findings, we decided to study systematically patients which showed this kind of imaging, focusing on their manganese and iron status, as it is known that these two metals have similar properties and that iron-deficiency can competitively increase manganese absorption. The 20 patients studied underwent clinical evaluation and the following laboratory tests: whole blood iron and manganese, hemoglobin, plasma iron, transferrin and ferritin. The neuroradiologic evaluation was integrated by pallidal index calculation, in order to provide a semi-quantitative esteem of the hyperintensity. The patients could be classified into four subgroups: Parkinsonism, anemia, cirrhosis, central nervous system tumors. In 18 out of 20 cases, we found abnormalities in iron and/or manganese-related values. Particularly, iron-deficiency seems to be frequent among patients showing brain MRI abnormalities compatible with manganese deposits in basal ganglia. This observation suggests that iron-deficiency could be an important risk factor for manganese-induced neurotoxicity and should, therefore, be accurately considered and treated.
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PMID:T1-weighted hyperintensity in basal ganglia at brain magnetic resonance imaging: are different pathologies sharing a common mechanism? 1252 Jul 56

1H magnetic resonance (1H MR) studies of the brain in patients with liver diseases have shown several abnormalities that may be relevant for the pathogenesis of hepatic encephalopathy. 1H magnetic resonance imaging shows a typical pallidal hyperintensity on T1-weighted images. This abnormality appears to be secondary to the accumulation of manganese in basal ganglia because of portal-systemic shunting. No direct correlation between the magnitude of pallidal hyperintensity and the grade of hepatic encephalopathy has been found, but some studies have related pallidal hyperintensity to parkinsonism. 1H magnetic resonance spectroscopy shows relative to creatine an increase in glutamine/glutamate (Glx) signal and a decrease of choline containing compounds (Cho) and myo-inositol. Abnormalities in the Glx signal have been interpreted as an increase in brain glutamine secondary to the metabolism of ammonia in astrocytes. Disturbances of Cho and myo-inositol have been interpreted as a compensatory response to the increase in intracellular osmolality caused by the accumulation of glutamine in astrocytes. In addition, magnetization transfer imaging shows signs compatible with low-grade cerebral edema. Altogether, 1H MR studies suggest the accumulation of manganese and the development of osmotic abnormalities in the brain of patients with cirrhosis. These abnormalities appear to participate in some of the neurological manifestations of hepatic encephalopathy.
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PMID:1H magnetic resonance in the study of hepatic encephalopathy in humans. 1260 17


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