1/8. Clinical and brain 18fluoro-2-deoxyglucose positron emission tomographic findings in ethylmalonic aciduria, a progressive neurometabolic disease.We report a 2-year-old boy with ethylmalonic aciduria and vasculopathy syndrome evaluated by 18fluoro-2-deoxyglucose positron emission tomographic (18FDG PET) brain scan, with intense uptake of 18FDG in the caudate nucleus and putamen bilaterally but with no morphological changes on magnetic resonance imaging (MRI). A repeat 18FDG PET brain scan 1 year later showed a significant bilateral decreased uptake of glucose in the putamen and the head of the caudate nucleus as well as a decreased uptake in the frontal lobes. On MRI, there was atrophy and watershed infarcts in the basal ganglia, explaining the loss of glucose uptake. These results reflect a selective vulnerability of the basal ganglia, their functional derangement, and ultimate degeneration.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
2/8. Glutaric aciduria type I diagnosed after poliovirus immunization: magnetic resonance findings.Glutaric aciduria type I is an uncommon inborn error of metabolism. It is a serious disease, often with a fatal outcome. magnetic resonance imaging findings and the clinical course of monozygotic twin females with glutaric aciduria type I who were admitted with acute encephalopathic crisis symptoms 3 days after immunization for poliovirus are presented in this report. magnetic resonance imaging findings revealed hyperintensity in the putamen, head of the left caudate nucleus, and globus pallidus, periventricular white matter (on T(2)-weighted images), arachnoid cysts in bilateral temporal regions, and enlargement of the sylvian fissures. Glutaric aciduria type I should be included in the differential diagnosis of patients with acute encephalopathic crisis occurring shortly after poliovirus immunization. Typical magnetic resonance findings guide urinary organic acid analysis in these patients.- - - - - - - - - - ranking = 0.5keywords = putamen (Clic here for more details about this article) |
3/8. Striatal degeneration in glutaric acidaemia type II.A girl of first cousin parents presented in the 1st year of life with a progressive neurological disease with muscle weakness and hypotonia, accompanied later by dystonia. Investigations, including gas chromatography of urine, showed no abnormality. autopsy showed marked neuronal loss and gliosis in the putamen and globus pallidus. The activity of glutaryl-coa dehydrogenase in cultured fibroblasts was normal, but the activity of electron transfer flavoprotein was markedly diminished. Retrospective study of urine by capillary gas chromatography/mass spectrometry showed small amounts of glutaric and other organic acids. This is the first report of striatal degeneration in association with glutaric acidaemia type II. The neuropathological changes were milder than those in glutaric acidaemia type I.- - - - - - - - - - ranking = 0.5keywords = putamen (Clic here for more details about this article) |
4/8. Pathologic alterations in the brain and liver in hyperpipecolic acidemia.Pipecolic acid is a cyclic secondary imino acid produced in the metabolism of lysine. The metabolic role and fate of pipecolic acid in the human central nervous system are largely unknown. The biochemical defect in two brothers, both less than two years of age, with minor dysmorphic features, progressive neurological dysfunction, and hepatomegaly was identified as hyperpipecolatemia. At autopsy, the older brother's brain weight was increased, with bilateral pallor of the putamen. Distinctive changes included accumulation of 1-1.5 micrometer periodic acid-Schiff (PAS) positive, diastase-resistant, alcian blue-negative, non-lipid, non-fluorescent granules in astrocytes, satellite cells, and perivascular foot processes. Both light and electron microscopy showed total absence of these granules in neurons. In the older sibling, the liver showed micronodular cirrhosis with distinctive intrahepatocytic accumulation of 0.2-1 micrometer membrane-bound material of low electron density. Pericellular fibrosis and similar cytoplasmic inclusions were present in the liver biopsy from his brother. The distinctive astrocytic storage phenomenon and the liver changes are compared to the findings in Zellweger's syndrome and lysinuric protein intolerance, which are also associated with altered pipecolate metabolism.- - - - - - - - - - ranking = 0.5keywords = putamen (Clic here for more details about this article) |
5/8. 3-Ketothiolase deficiency: a review and four new patients with neurologic symptoms.3-Ketothiolase deficiency (3KTD) manifests with intermittent acidosis and is due to deficiency of mitochondrial 2-methylacetoacetate thiolase. Only 22 patients have been previously reported. Although its variable clinical presentation is recognized, the associated neurological findings have not been detailed. We report four new patients all with significant neurological symptoms. Three patients were examined with MRI of the brain which showed increased T2 intensity within the posterior lateral part of the putamen bilaterally. In two the MRI was otherwise normal; in one delayed myelination was also seen. These MRI putaminal findings may be typical enough to suggest the diagnosis of 3KTD. Two of the three had abnormal EEGs; one had an abnormal VEP. 3KTD can thus occur as an organic acidemia associated with encephalopathy.- - - - - - - - - - ranking = 0.5keywords = putamen (Clic here for more details about this article) |
6/8. movement disorders in childhood organic acidurias. Clinical, neuroimaging, and biochemical correlations.Over the last 5 years the Pediatric neurology service at King Faisal Specialist Hospital and research Centre (KFSH&RC) has seen 131 infants and children with movement disorders. Forty-nine (37%) had identifiable biochemical defects, 25 of which were organic acidemias. Nineteen of 29 patients with dystonia had organic acidemias, primarily glutaric aciduria type 1 (7 patients), bilateral striatal necrosis (4 patients), and 3-methyl glutaconic aciduria (3 patients). All patients with parkinsonian rigidity (n = 11) had organic acidemias; again, the greatest number accounted for by glutaric aciduria type 1 (7 patients), who had both parkinsonian rigidity combined with dystonia. myoclonus occurred in only 1 of 25 and chorea in 7 of 25 patients with organic acidemias. At the least all patients had bilateral lesions of putamen and head of caudate, seen best in MRI brain scans as increased T2 signal intensities with normal volume, and later with volume loss.- - - - - - - - - - ranking = 0.5keywords = putamen (Clic here for more details about this article) |
7/8. Two cases of glutaric aciduria type 1: clinical and neuropathological findings.We report clinical and neuropathological studies of 2 patients with glutaric aciduria type 1. A 10-month-old male with involuntary movements expired suddenly at home. The second, a 15-year-old female, died after three episodes of acute encephalopathy including a reye syndrome-like episode and an episode of severe hypoglycemia. Hypocarnitinemia was also present. Selective involvement of type II muscle fibers was observed during the reye syndrome-like episode. magnetic resonance imaging of the 2 patients showed marked widening of the sylvian fissure, atrophy of the basal ganglia, and white matter lesions. Neuropathology of the 10-month-old patient showed: (1) temporal and frontal lobe hypoplasia, (2) degeneration of the putamen and the pallidum, (3) mild status spongiosus in the cerebral white matters, (4) heterotopic neurons in the cerebellum, and (5) hypoplasia of the cerebral white matter. This patient appeared to manifest a migration and/or maturation abnormality of the brain as well as previously observed basal ganglia and white matter degeneration.- - - - - - - - - - ranking = 0.5keywords = putamen (Clic here for more details about this article) |
8/8. brain magnetic resonance imaging in suspected extrapyramidal cerebral palsy: observations in distinguishing genetic-metabolic from acquired causes.Experienced clinicians recognize that some children who appear to have static cerebral palsy (CP) actually have underlying genetic-metabolic disorders. We report a series of patients with motor disorders seen in children with extrapyramidal CP in whom brain magnetic resonance imaging abnormalities provided important diagnostic clues in distinguishing genetic-metabolic disorders from other causes. One cause of static extrapyramidal CP, hypoxic-ischemic encephalopathy at the end of a term gestation, produces a characteristic pattern of hyperintense signal and atrophy in the putamen and thalamus. Other signal abnormalities and atrophy in the putamen, globus pallidus, or caudate can point to genetic-metabolic diseases, including disorders of mitochondrial and organic acid metabolism. Progress in understanding and treating genetic diseases of the developing brain makes it essential to diagnose disorders that masquerade as static CP. brain magnetic resonance imaging is a useful diagnostic tool in the initial evaluation of children who appear to have CP.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |