Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0085584 (encephalopathy)
 18,178 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two cases of panhypopituitarism occurring in cirrhotic patients with chronic hepatitis C, hemochromatosis and in the second case, alpha 1-antitrypsin deficiency with phenotype SS. The hypopituitarism was most probably a result of pregnancy-associated pituitary infection in Case 1 and spontaneous infection of a somatotrophic pituitary adenoma in Case 2. Both cases experienced complications related to salt and water excretion, cardiac arrhythmia, and encephalopathy related to the pituitary disease that was initially ascribed to their hepatic disease. These two cases demonstrate the difficulty one can have in caring for patients with advanced liver disease with confounding endocrine dysfunction.
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PMID:Panhypopituitarism in two cirrhotics: clinical presentation and liver disease associations. 765 May 65

A 47-year-old man with cirrhotic liver disease complicated by encephalopathy and class IV congestive heart failure caused by genetic hemochromatosis underwent combined orthotopic heart and liver transplantation. The patient remains well, working full time, 4 years after operation. Combined heart and liver transplantation is an effective therapy for selected patients with concurrent heart and liver failure caused by systemic iron overload.
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PMID:Combined orthotopic heart and liver transplantation for genetic hemochromatosis. 917 Dec 79

Recent advances in the diagnosis and treatment of inborn errors of metabolism have improved substantially the prognosis for many of these conditions. This makes it essential that the practicing pediatrician be familiar with the clinical presentation of these disorders. A practical clinical approach to the recognition of inborn errors of metabolism in the young infant is presented in this review. Indications for specific laboratory studies are discussed. Guidelines are provided for the stabilization and emergency treatment of critically ill infants. This approach will identify those infants who will benefit from additional evaluation and specific treatment. Many of the inborn errors of metabolism, including urea cycle defects, organic acidemias, and certain disorders of amino acid metabolism, present in the young infant with symptoms of an acute or chronic metabolic encephalopathy. Typical symptoms include lethargy, poor feeding, apnea or tachypnea, and recurrent vomiting. Metabolic acidosis and/or hyperammonemia are observed in many of these conditions, but there are notable exceptions, including nonketotic hyperglycinemia and molybdenum co-factor deficiency. Therefore, appropriate laboratory testing for metabolic disorders should be performed in any infant who exhibits these findings. Although sepsis may be the initial consideration in a neonate with these symptoms, inborn errors of metabolism should always be in the differential diagnosis, particularly in a full-term infant with no specific risk factors. Hypoglycemia may be the predominant finding in a number of inborn errors of metabolism, including glycogen storage disorders, defects in gluconeogenesis, and fatty acid oxidation defects. The latter disorders, among the most common encountered, exhibit marked clinical variability and also may present as a sudden death, a Reye's-like episode, or a cardiomyopathy. Jaundice or other evidence of hepatic dysfunction is the mode of presentation of another important group of inborn errors of metabolism including galactosemia, hereditary tyrosinemia, neonatal hemochromatosis, and a number of other conditions. A subset of lysosomal storage disorders may present very early with coarse facial features, organomegaly, or even hydrops fetalis. Specific patterns of dysmorphic features and congenital anomalies characterize yet another group of inherited metabolic disorders, such as Zellweger syndrome and the Smith-Lemli-Opitz syndrome. Each of these symptom complexes, and the appropriate evaluation of the affected infants, is discussed in more detail in this review.
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PMID:Inborn errors of metabolism in infancy: a guide to diagnosis. 983 97

Acute liver failure in neonates is rare, but carries a high mortality. Neonatal liver failure can be defined as "failure of the synthetic function of liver within 4 weeks of birth". Encephalopathy is not essential for the diagnosis. Acute liver failure in neonates differs from children with regard to aetiology and outcome. Common causes of neonatal liver failure are neonatal hemochromatosis, haematological malignancies, viral infections and liver-based metabolic defects. Early diagnosis and referral to a paediatric liver centre is recommended as liver transplantation is the only definitive treatment when supportive or a disease-specific treatment fails.
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PMID:Neonatal liver failure: aetiologies and management--state of the art. 2088 52

Several decades ago, aluminum encephalopathy associated with osteomalacia has been recognized as the major complication of chronic renal failure in dialyzed patients. Removal of aluminum from the dialysate has led to a disappearance of the disease. However, aluminum deposit occurs in the hydroxyapatite of the bone matrix in some clinical circumstances that are presented in this review. We have encountered aluminum in bone in patients with an increased intestinal permeability (coeliac disease), or in the case of prolonged administration of aluminum anti-acid drugs. A colocalisation of aluminum with iron was also noted in cases of hemochromatosis and sickle cell anemia. Aluminium was also identified in a series of patients with exostosis, a frequent benign bone tumor. Corrosion of prosthetic implants composed of grade V titanium (TA6V is an alloy containing 6% aluminum and 4% vanadium) was also observed in a series of hip or knee revisions. Aluminum can be identified in undecalcified bone matrix stained by solochrome azurine, a highly specific stain allowing the detection of 0.03 atomic %. Colocalization of aluminum and iron does not seem to be the fruit of chance but the cellular and molecular mechanisms are still poorly understood. Histochemistry is superior to spectroscopic analyses (EDS and WDS in scanning electron microscopy).
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PMID:Aluminum and bone: Review of new clinical circumstances associated with Al(3+) deposition in the calcified matrix of bone. 2676 22

Shunts between the superior mesenteric vein (SMV) and the right renal vein (RRV) are very rare. Here, we describe and depict the rare case of a liver transplant (LT) in the setting of shunt between SMV and RRV. A 67-year-old white man presenting with Child C cirrhosis secondary to hemochromatosis and persistent encephalopathy was listed for LT. Preoperative abdominal angiotomography revealed the presence of a large spontaneous shunt between the SMV and the RRV. The patient underwent LT by receiving a liver from a 17-year-old brain-dead deceased donor victim of trauma. A large shunt between the SMV and the RRV was confirmed intraoperatively. Although there was no portal vein (PV) thrombosis, the PV was atrophic and had a reduced flow. PV pressure was 22mmHg (an arterial line was inserted inside the PV stump, and this line was connected to a common pressure transducer, the pressure readings was expressed in the anesthesia monitor). After shunt ligation PV pressure increased to 32mmHg. There were no post-transplant vascular complications, and the patient was discharged home in good health. Preoperative study of all LT candidates with angio CT scan is mandatory. Whenever there is PV thrombosis, an attempt to remove the entire thrombus is warranted. After thrombectomy or whenever there is not PV thrombosis, all large shunts should be ligated. PV pressure and flow should be measured before and after shunt ligation. In the absence of PV thrombosis, ligation of the shunt should enable an increase in PV flow and pressure, as reported herein.
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PMID:Liver transplantation in the setting of a spontaneous shunt between superior mesenteric vein and right renal vein. 3159 57