1/45. A case in the spectrum of the oculo-encephalo-hepato-renal syndrome.An 18-year-old male is presented with unprecedented central nervous system findings (cerebral dysplasia and sacral meningocele) possibly in the spectrum of the oculo-encephalo-hepato-renal syndrome. He had severe mental retardation, triplegia, epilepsy, retinitis pigmentosa, and chronic renal failure. magnetic resonance imaging demonstrated cerebral dysplasia (left dominant abnormal gyri, hypoplastic white matter, basal ganglia, and thalamus, and absence of the septum pellucidum) and the hypoplastic cerebellum and brainstem. A sacral meningocele was observed first at 16 years of age. His renal function gradually worsened after 11 years of age. His liver function was normal. The previously reported 72 cases with the oculo-encephalo-hepato-renal syndrome are reviewed.- - - - - - - - - - ranking = 1keywords = brain, central nervous system, nervous system (Clic here for more details about this article) |
2/45. Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency and early-onset liver cirrhosis in two siblings.We present the clinical, pathological, biochemical, and molecular results on an infant girl with long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency and data on her deceased elder brother for whom this condition was retrospectively diagnosed. Clinical signs were liver enlargement and elevated liver enzymes, failure to thrive, and neurological disease (coma, seizures) triggered by an infectious stress. In the second child hepatic failure and status epilepticus developed during the onset of a rotavirus gastroenteritis. A barbituric coma was induced, but hypotonia and lack of eye pursuit persisted after suppression of antiepileptic drugs. She ultimately died of heart failure. Unlike previously reported cases, both of these patients had early-onset cirrhosis, and severe neurological disease was observed in the second child. CONCLUSION: liver cirrhosis and brain damage may be underestimated in cases of long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency and may occur early in life.- - - - - - - - - - ranking = 0.44523252982741keywords = brain (Clic here for more details about this article) |
3/45. Severe type II gaucher disease with ichthyosis, arthrogryposis and neuronal apoptosis: molecular and pathological analyses.Severe infantile gaucher disease associated with ichthyosis and neonatal death is a rare subgroup of Type II gaucher disease. This group of infants has little, if any, detectable beta-glucocerebrosidase activity, and prior genetic analyses have been limited in detecting the mutations responsible for this phenotype. We document an Hispanic infant succumbing with arthrogryposis and collodion membrane covering the skin who had no detectable beta-glucocerebrosidase activity in tissue samples and who was homozygous for a rare recombinant allele, RecNciI. Microscopic evaluation demonstrated accumulation of Gaucher cells in visceral organs and extensive loss of neurons in the anterior horns, brainstem, and cortex of the nervous system. The apoptosis of neuronal cells from the anterior horns and brainstem are a reasonable explanation for the arthrogryposis and neonatal death, respectively.- - - - - - - - - - ranking = 1.0804547170714keywords = brain, nervous system (Clic here for more details about this article) |
4/45. Hepatocellular carcinoma complicating liver cirrhosis in type IIIa glycogen storage disease.Type III glycogen storage disease (GSD III) is an autosomal recessive disorder characterized by the accumulation of abnormal glycogen in the liver and, in most patients, in the muscle. Although liver fibrosis is a well-known consequence of GSD III, until now only eight cases of liver cirrhosis and two cases of hepatocellular carcinoma have been described in patients affected by this disease. In this case report, the authors describe the clinical history of a patient affected by GSD III who developed severe liver disease during her adult life, progressing from fibrosis to cirrhosis and finally to hepatocellular carcinoma. Until now, the hepatic involvement in GSD III has been considered by most authors as mild and almost always self-limiting. This report, together with the previously published cases, clearly indicates that severe and progressive liver disease may complicate this metabolic disorder. These observations advise a careful hepatologic follow-up of patients affected by GSD III.- - - - - - - - - - ranking = 271.39979347251keywords = metabolic disorder (Clic here for more details about this article) |
5/45. Psychiatric symptoms as late onset of Wilson's disease: neuroradiological findings, clinical features and treatment.We describe a case of Wilson's disease with late psychiatric onset. Major depressive disorder was the first clinical manifestation at the age of 38 years. After pharmacotherapy with antidepressive agents, a manic episode was observed. Extrapyramidal hand tremor and micrography were the first neurological signs. Emotional lability occurred during worsening of extrapyramidal signs. diagnosis was based on urinary and serum copper levels, ceruloplasmin serum level, Kayser-Fleischer ring, and liver biopsy that detected cirrhosis. magnetic resonance imaging revealed basal ganglia hyperintensity on T1-weighted images, and hypodensity in the central part and hyperintensity in the peripheral part of the lentiform nucleus on T2-weighted images. Hyperintensity on T2-weighted images was also observed in the dorsal part of the midbrain. 123I-iodobenzamide single photon emission computed tomography (IBZM-SPECT) detected a normal distribution of the drug in the brain, with better signal in the right side and deficit of D2-dopaminergic receptors in the basal ganglia. Abnormal manganese erythrocyte level was observed. Treatment was based on penicillamine, zinc salts, low-copper diet, antidepressant agents, interpersonal psychotherapy and neurorehabilitation.- - - - - - - - - - ranking = 0.89046505965481keywords = brain (Clic here for more details about this article) |
6/45. paraparesis, hypermanganesaemia, and polycythaemia: a novel presentation of cirrhosis.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.- - - - - - - - - - ranking = 0.44523252982741keywords = brain (Clic here for more details about this article) |
7/45. Toxic metronidazole-induced MRI changes.OBJECTIVE: To report a case of changes documented by magnetic resonance imaging (MRI) of the head probably due to accumulation of metronidazole in a patient with liver dysfunction. CASE SUMMARY: A 34-year-old Hispanic man with cirrhosis and hepatitis c being treated with metronidazole for bacteroides fragilis meningitis and bacteremia developed ataxia, disorientation, and peripheral neuropathy. An MRI at the time meningitis was diagnosed was negative. After the patient received > 60 g of metronidazole, an MRI revealed increased signal intensity below, behind, and lateral to the fourth ventricle. Concomitant metronidazole serum concentration was toxic at 35.1 micrograms/mL. DISCUSSION: This is the second reported case of metronidazole-induced MRI changes. metronidazole is known to accumulate in patients with liver dysfunction and can cause peripheral neuropathy and central nervous system (CNS) dysfunction; these effects may take up to two years to completely resolve. CONCLUSIONS: metronidazole dosages should be reduced in patients with liver dysfunction to prevent the accumulation of metronidazole, which can lead to CNS dysfunction and peripheral neuropathy.- - - - - - - - - - ranking = 0.55476747017259keywords = central nervous system, nervous system (Clic here for more details about this article) |
8/45. Successful outcome after transplantation of a donor liver with focal nodular hyperplasia.Because of the increasing gap in the number of patients awaiting organ transplantation and the supply of organ donors, reevaluation of donor criteria is an important issue in clinical transplantation. It has become necessary to make maximal use of the currently available donor pool. We describe a case of successful orthotopic liver transplantation in a 57-year-old man with Laennec's cirrhosis using a liver containing an 8-cm focal nodular hyperplasia (FNH) lesion involving segments II and III and the caudate lobe. The donor liver was procured from a 46-year-old woman declared brain dead after a subarachnoid hemorrhage. Definitive pathological diagnosis was made at laparotomy by obtaining a Tru-cut (Allegiance health Care Inc, Toronto, ontario, canada) core biopsy specimen. The recipient operation was performed uneventfully except for bleeding from the biopsy site. The patient did well postoperatively and was discharged on tacrolimus, mofetil mycophenolate, and prednisone therapy. He continues to thrive 2(1/2) years posttransplantation with no change in the size of the lesion. In well-selected donors, FNH should not be a contraindication for use in transplantation. However, FNH must be differentiated from hepatocellular adenoma. Although FNH has a benign course with little propensity for bleeding and almost no malignant potential, hepatic adenoma is reported to have a 15% to 33% chance of bleeding and rupture with a well-documented potential for neoplastic degeneration, making the liver unsuitable for donation.- - - - - - - - - - ranking = 0.44523252982741keywords = brain (Clic here for more details about this article) |
9/45. Usefulness of magnetic resonance spectroscopy for diagnosis of hepatic encephalopathy in a patient with relapsing confusional syndrome.magnetic resonance spectroscopy allows the assessment of several metabolites in brain tissue. In patients with hepatic encephalopathy, this technique shows a rise in glutamine and a decrease in myoinositol in brain tissue. However, the role of magnetic resonance spectroscopy in the diagnosis of hepatic encephalopathy is not known. We report the case of a patient with a relapsing confusional syndrome who underwent magnetic resonance spectroscopy. Previously, hepatic encephalopathy was ruled out because of the negative results of a transjugular liver biopsy and normal hepatic venous pressure gradient. The results of magnetic resonance were characteristic of hepatic encephalopathy. Abdominal computed tomography demonstrated large portosystemic shunts associated with cirrhosis of the liver. This case shows that magnetic resonance spectroscopy is an useful technique for the diagnosis of hepatic encephalopathy in selected cases, such as those without clinical signs of cirrhosis and/or large portosystemic shunts.- - - - - - - - - - ranking = 0.89046505965481keywords = brain (Clic here for more details about this article) |
10/45. Rapid improvement of autonomic and peripheral neuropathy after liver transplantation: a single case report.Peripheral and autonomic neuropathies are known but often unrecognized associations of cirrhosis from any cause. The pathogenesis of these effects are ill understood. liver transplantation has been shown to reverse autonomic manifestations, but little evidence exists for an effect on peripheral neuropathy. This case report documents improvement in peripheral and autonomic neuropathy in a 40-year-old man with hepatitis b virus--related cirrhosis. A return to normal neurophysiological function was seen within 9 months of successful liver transplantation, suggesting a metabolic, rather than a structural, cause of such changes in the peripheral nervous system.- - - - - - - - - - ranking = 0.18998965741654keywords = nervous system (Clic here for more details about this article) |
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