1/97. In vivo brain proton MR spectroscopy in a case of molybdenum cofactor deficiency.A 20-day-old infant with molybdenum cofactor deficiency, a rare encephalopathy, was investigated using cerebral MRI and proton MR spectroscopy. Images demonstrated extensive white-matter destruction with large cavities. The short-echo-time MR spectrum acquired in the parieto-occipital area was characterised by global loss of signal and accumulation of lactate. No additional signal in relation to the pathophysiology of the disease was detected. The brain metabolic abnormalities observed in this patient may reflect destruction of white matter and the presence of large cavities.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
2/97. Reversible brain creatine deficiency in two sisters with normal blood creatine level.We describe a new creatine metabolism disorder in 2 young sisters who suffered from mental retardation and severe language delay. blood examination, investigation of the most common neurometabolic disorders, and brain magnetic resonance imaging were normal. diagnosis was established only by means of in vivo proton magnetic resonance spectroscopy, which disclosed generalized depletion of creatine in the brain. creatine monohydrate oral administration led to almost complete brain creatine level restoration along with improvement of the patients' disabilities.- - - - - - - - - - ranking = 1.4keywords = brain (Clic here for more details about this article) |
3/97. Prolonged cerebral salt wasting syndrome associated with the intraventricular dissemination of brain tumors. Report of two cases and review of the literature.hyponatremia is a frequent event in neurosurgery practice and is usually associated with subarachnoid hemorrhage, head trauma, infections and neoplasms. The two common clinical manifestations are the inappropriate secretion of antidiuretic hormone (SIADH) and the cerebral salt wasting syndrome (CSWS), which were usually attributed to each other due to identical clinical presentation. In contrast to the better-recognized SIADH, there has not been a uniform consensus over the humoral and neural mechanisms of CSWS and functional aspects of renal response. In this article, we report on 2 cases of a primitive neuroectodermal tumor with prolonged CSWS manifested during the intraventricular dissemination of primary disease and the high catabolic stage.- - - - - - - - - - ranking = 0.8keywords = brain (Clic here for more details about this article) |
4/97. bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase ii deficiency syndrome.carbonic anhydrase ii (CAII), found in renal tubules, brain, and osteoclasts, is critical in acid-base homeostasis and bone remodeling. Deficiency of CAII gives rise to a syndrome of osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification with associated developmental delay. It is inherited in an autosomal recessive fashion and found most frequently in the mediterranean region and the middle east. We report 2 related Irish families with clinically severe CAII deficiency in whom the gene mutation has been fully elucidated. Two children, one from each family, have undergone allogeneic bone marrow transplantation because of severe progressive visual and hearing loss. The older 2 children had already developed cerebral calcification and marked visual loss at the time of diagnosis and were treated symptomatically. Post-transplantation evaluation at 2 and 3 years demonstrates histologic and radiologic resolution of their osteopetrosis with stabilization of hearing and vision. Both children remain developmentally delayed and continue to have RTA, and the older child has now developed cerebral calcification. Allogeneic bone marrow stem cell replacement cures the osteoclast component of CAII deficiency and retards the development of cerebral calcification, but it appears to have little or no effect on the renal lesions. (blood. 2001;97:1947-1950)- - - - - - - - - - ranking = 0.2keywords = brain (Clic here for more details about this article) |
5/97. In vivo 1H magnetic resonance spectroscopic measurement of brain glycine levels in nonketotic hyperglycinemia.Nonketotic hyperglycinemia (NKH) is an autosomal recessive disorder of glycine metabolism. Defective glycine cleavage causes elevated concentrations of glycine in plasma, urine, and cerebrospinal fluid. A longitudinal study using magnetic resonance imaging (MRI) and single-voxel 1H magnetic resonance spectroscopy (MRS) was performed on an infant with the typical clinical picture of NKH. He was examined twice during the course of treatment with sodium benzoate and dextromethorphan. At the age of 10 months, MRI showed normal brain structure, while MRS detected a prominent glycine peak in the brain. Repeat MRS at the age of 13 months showed a small increase in glycine peak and a prominent glutamate/glutamine peak not previously detected. The MRS measurements were consistent with the slight increase in blood glycine level and the elevation in glutamine level, indicating that 1HMRS can be a valuable tool in the diagnosis and monitoring of treatment effects in patients with NKH.- - - - - - - - - - ranking = 1.2keywords = brain (Clic here for more details about this article) |
6/97. glucose and oxygen hypometabolism in aceruloplasminemia brains.OBJECTIVE: Aceruloplasminemia is an iron metabolic disorder caused by mutations in the ceruloplasmin gene. It is characterized by progressive neurodegeneration in association with iron accumulation. Excess iron functions as a potent catalyst of biologic oxidation. Previously we showed that an increased iron concentration is associated with the products of lipid peroxidation in the serum, cerebrospinal fluid, and brain tissues. To clarify the free radical-mediated tissue injury caused by intracellular iron accumulation through mitochondrial dysfunction. patients AND methods: We have measure brain oxygen and glucose metabolisms using positron emission tomography (PET) and examined brains at autopsy for iron contents and activities of the mitochondrial respiratory chain in two affected patients who had different truncation mutations of the ceruloplasmin gene. RESULTS: PET showed a marked decrease in glucose and oxygen consumption in the entire brain of aceruloplasminemia patients, with a preponderance of metabolic reduction in basal ganglia. Enzyme activities in the mitochondrial respiratory chain of the basal ganglia were reduced to approximately 45% and 42% respectively for complexes I and IV. An inverse relationship was shown between the amounts of iron accumulated and the levels of mitochondrial enzyme activities in all the brain regions examined. CONCLUSION: iron-mediated free radicals may contribute to the impairment of mitochondrial energy metabolism in aceruloplasminemia.- - - - - - - - - - ranking = 1.8000950256252keywords = brain, injury (Clic here for more details about this article) |
7/97. Valproate-induced encephalopathy: assessment with MR imaging and 1H MR spectroscopy.The anticonvulsant agent valproate (VPA) may cause hyperammonemic encephalopathy. magnetic resonance imaging (MRI) and proton MR spectroscopic (MRS) findings in a patient with VPA-induced hyperammonemic encephalopathy are described. MRI showed a metabolic-toxic lesion pattern with bilateral T2-hyperintense lesions in the cerebellar white matter and in the globus pallidus. MR spectroscopic findings were indistinguishable from hepatic encephalopathy with severe depletion of myoinositol and choline and with glutamine excess. N-Acetylaspartate levels were moderately decreased. Quantitative MRS gave detailed insight into alterations of brain metabolism in VPA-induced encephalopathy.- - - - - - - - - - ranking = 0.2keywords = brain (Clic here for more details about this article) |
8/97. Neuroglycopenia in normoglycaemic patients, and the potential benefit of ketosis.We report a patient with recurrent symptoms of neuroglycopenia due to a defective glucose transport into brain. The potential benefit of ketosis in neuroglycopenia is discussed from the therapeutic concept of a ketogenic diet in GLUT1-deficiency syndrome.- - - - - - - - - - ranking = 0.2keywords = brain (Clic here for more details about this article) |
9/97. diffusion-weighted MR imaging in neonatal nonketotic hyperglycinemia.To our knowledge, we are the first to report the diffusion-weighted MR imaging findings in a 15-day-old neonate with nonketotic hyperglycinemia. We found bilaterally symmetrical lesions of restricted diffusion in the dorsal brain stem, cerebral peduncles, and posterior limbs of the internal capsule, which were more conspicuous and extensive on diffusion-weighted MR images than on T2-weighted images. These lesions are in the myelinated tracts of the neonate and are compatible with the expected sites of abnormality in vacuolating myelinopathy.- - - - - - - - - - ranking = 0.2keywords = brain (Clic here for more details about this article) |
10/97. Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders.We present brain MR images in three patients with neonatal-onset hyperammonemic encephalopathy resulting from urea-cycle disorders (two sisters with deficiency of the carbamyl phosphate synthetase I reaction step and one boy with an ornithine transcarbamylase deficiency). MR imaging revealed almost identical findings of injury to the bilateral lentiform nuclei and the deep sulci of the insular and perirolandic regions; to our knowledge, this pattern has not been previously reported. We hypothesize that these lesions presumably reflect the distribution of brain injury due to hypoperfusion secondary to hyperammonemia and hyperglutaminemia in the neonatal period.- - - - - - - - - - ranking = 0.40019005125047keywords = brain, injury (Clic here for more details about this article) |
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