1/8. Subacute necrotizing encephalomyelopathy. Clinical, ultrastructural, biochemical and therapeutic studies in an infant.Subacute necrotizing encephalomyelopathy (SNE) has been observed in an infant with regressing psychomotor development. The concentrations of alanine, pyruvate and lactate were increased in the serum and blood as well as in the cerebrospinal fluid. pyruvate carboxylase activity was reduced in the liver tissue. An inhibitor of thiamine-pyrophosphate-ATP-phosphotransferase was present in the urine. Thiamine treatment was followed by a decrease of serum alanine and blood pyruvate and lactate, but there was no clinical improvement during a period of 17 months. Ultrastructural investigations revealed high glycogen levels in liver tissue and skeletal muscle. These findings contrast with decreased gluconeogenesis, which is suggested by the diminished pyruvate carboxylase activity. Therefore it is concluded that reduced hepatic pyruvate carboxylase activity is not the primary cause of SNE.- - - - - - - - - - ranking = 1keywords = carboxylase (Clic here for more details about this article) |
2/8. Peripheral neuropathy in Leigh's encephalomyelopathy.An infant with subacute necrotising encephalopathy is described, in whom slow motornerve conduction velocities suggested the presence of peripheral neuropathy. peripheral nerves are not invariably involved in patients with this disease, but as they are involved in thiamine-deficiency states it is conjectured that the presence or absence of peripheral neuropathy in patients with subacute necrotising encephalopathy may distinguish those with thiamine triphosphate deficiency from those in whom the disease is due to other causes.- - - - - - - - - - ranking = 0.00059851390372824keywords = deficiency (Clic here for more details about this article) |
3/8. Isolated sulphite oxidase deficiency: clinical and biochemical features in an Italian patient.A patient with isolated sulphite oxidase deficiency presented with seizures at 12 h of life and followed a severe course, dying at 10 months of age. There was mild facial dysmorphism and the brain showed multiple cystic fibrosis.- - - - - - - - - - ranking = 0.0014962847593206keywords = deficiency (Clic here for more details about this article) |
4/8. Cerebral lymphoma and hiv encephalitis in a case of paediatric AIDS, with pre-existing multicystic encephalomalacia.A case of intracerebral malignant B cell lymphoma associated with encephalitis typical of Human Immunodeficiency Virus (hiv) infection is described in a 4 year old child, with post-transfusion Acquired Immune Deficiency Syndrome (AIDS) and severe pre-existing cystic encephalomalacia. This report further documents B cell lymphoma as the commonest cause of an intracerebral mass, and an important cause of death in paediatric AIDS. That more than one pathological process may be responsible for neurological symptoms in paediatric AIDS is also emphasised.- - - - - - - - - - ranking = 0.00029925695186412keywords = deficiency (Clic here for more details about this article) |
5/8. Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue.A patient is described with subacute necrotizing encephalomyelopathy proven by autopsy. A slight increase of blood pyruvate and lactate levels with an increased lactate/pyruvate ratio and frequently increased beta-hydroxybutyrate/acetoacetate ratio suggested a disorder of mitochondrial oxidation. A cytochrome c oxidase deficiency was shown in peripheral muscle tissue with some residual cytochrome c oxidase activity in heart muscle. Normal cytochrome c oxidase activity was present in liver tissue. Because of the markedly higher levels of pyruvate and lactate in CSF compared with blood and an increased lactate/pyruvate ratio in CSF, there may also have been defective activity of cytochrome c oxidase in brain tissue. After a period of apparently normal development, the child's clinical condition gradually deteriorated and she died at age 6 years due to respiratory insufficiency. This study illustrates the fact that Leigh's disease is not linked to a single inherited molecular defect.- - - - - - - - - - ranking = 0.0014962847593206keywords = deficiency (Clic here for more details about this article) |
6/8. Congenital lactic acidosis due to pyruvate carboxylase deficiency: absence of an inhibitor of TPP-ATP phosphoryl transferase.Two children are described who suffered from episodes of metabolic acidosis and progressive mental and motor deterioration. The patients showed periodic elevation of blood lactate, pyruvate and alanine, which was accompanied by vomiting, hypotonia or convulsions. The concentrations of lactate and pyruvate in cerebrospinal fluid were found to be increased. liver biopsies revealed a decrease in pyruvate carboxylase activity and normal pyruvate decarboxylase activity. No inhibitor of TPP-ATP phosphoryl transferase was detected in urine from the patients. These findings suggest that congenital lactic acidosis due to pyruvate carboxylase deficiency is probably a different disease entity from Leigh's encephalomyelopathy. A possible mechanism of brain damage caused by a defect in pyruvate carboxylase is postulated.- - - - - - - - - - ranking = 2.668162951426keywords = carboxylase, deficiency (Clic here for more details about this article) |
7/8. stroke in pediatric acquired immunodeficiency syndrome.In a 4 1/2-year period, 4 of 68 children in a longitudinal study of neurological complications of human immunodeficiency virus (hiv) infection had clinical and/or neuroradiological evidence of stroke, yielding a clinical incidence of stroke in this population of 1.3% per year. During this period, 32 subjects died, and permission for autopsy was granted in 18 of the patients, including 3 of 4 who had clinical evidence of stroke. The prevalence of cerebrovascular pathological features in our consecutive autopsy series was higher than the clinical incidence. At autopsy cerebrovascular disease was documented in 6 (24%) of 25 children with hiv infection, including all 3 children who had clinical evidence of stroke. Four patients had intracerebral hemorrhages, 6 patients had nonhemorrhagic infarcts, and 3 had both. hemorrhage was catastrophic in 1 child and clinically silent in 3 children, all of whom had immune thrombocytopenia. One child had an arteriopathy that affected meningocerebral arteries. In another child, the arteries of the circle of willis were aneurysmally dilated. Two children had coexisting cardiomyopathy and subacute necrotizing encephalomyelopathy with vascular proliferation. These results suggest that stroke should be considered when children with hiv infection develop focal neurological signs.- - - - - - - - - - ranking = 0.0014962847593206keywords = deficiency (Clic here for more details about this article) |
8/8. Normal activities of hepatic pyruvate dehydrogenase and pyruvate carboxylase in Leigh's syndrome.A case of Leigh's syndrome (subacute necrotizing encephalomyelopathy, SNE), proven by autopsy, was reported. The persistent elevation of pyruvate and lactate in blood and hyperalanemia suggested an impairment of pyruvate oxidation, but the enzyme activities of pyruvate dehydrogenase (PDH) and pyruvate carboxylase (PC) in liver tissues of the patient revealed normal. It is postulated that Leigh's syndrome and both enzyme deficiencies are distinct entities.- - - - - - - - - - ranking = 1.6666666666667keywords = carboxylase (Clic here for more details about this article) |