1/12. In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy.In a newborn infant with galactose-1-phosphate uridyltransferase deficiency and encephalopathy, brain magnetic resonance imaging revealed cytotoxic edema in white matter. Using in vivo proton magnetic resonance spectroscopy, we detected approximately 8 mmol galactitol per kilogram of brain tissue, an amount potentially relevant to the pathogenesis of brain edema.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
2/12. A Japanese girl with leukoencephalopathy with vanishing white matter.A Japanese girl with peculiar leukoencephalopathy was reported. Following normal development until 1 year of age, she showed progressive neurological deterioration with ataxia, epilepsy, pyramidal tract signs and choreic movement. Serial brain computed tomographies (CTs) revealed markedly low density and progressive volume loss in whole white matter. In extensive laboratory investigations, the level of glycine in the urine was elevated. She died at the age of 4 years, and the neuropathological findings were comprised of severe extensive changes in cerebral and cerebellar white matter, such as marked rarefaction or cystic degeneration with axonal loss. The pontine central tegmental tracts were also affected. Neuronal loss was seen in the cerebellar cortex. These features were compatible with leukoencephalopathy with vanishing white matter, which was recently established as a clinical entity. To our knowledge, this is the first report of a non-Caucasian patient with this new type of leukoencephalopathy.- - - - - - - - - - ranking = 7keywords = white (Clic here for more details about this article) |
3/12. molybdenum cofactor deficiency associated with Dandy-Walker complex.molybdenum cofactor deficiency is a rare and devastating disease leading to intractable seizures in the neonatal period. Severe loss of neocortical neurons, gliosis, and cystic necrosis of cerebral white matter resulting in significant cerebral volume loss are the neuropathological findings. The mechanism of cerebral injury is unknown, but sulphite excess, and sulphate or uric acid deficiencies are possible factors. We present here a new case of molybdenum cofactor deficiency associated with Dandy-Walker complex with a history of three dead siblings, the latter also having Dandy-Walker malformation. We speculate that severe cerebral volume loss due to the above mentioned mechanisms may lead to an appearance resembling Dandy-Walker malformation.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
4/12. L-2-hydroxyglutaric aciduria in two siblings.Two Pakistani siblings with L-2-hydroxyglutaric aciduria are reported herein. A 6-year-old male and a 2-year-old female, born to consanguineous parents, had chronic slowly progressive neurodegenerative disorder with insidious onset after infancy. Mental regression and seizures were evident in both patients, whereas cerebellar dysfunction was the main motor handicap in the male and pyramidal symptoms were prominent in the female. Magnetic resonance imaging revealed bilateral symmetrical abnormal signal in the subcortical white matter, internal and external capsules, basal ganglia, and dentate nuclei. The underlying metabolic defect, which is likely inherited in an autosomal recessive mode, remains unknown in this disorder.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
5/12. L-2 hydroxyglutaric aciduria: proton magnetic resonance spectroscopy and diffusion magnetic resonance imaging findings.A 10-month-old boy was reported with the diagnosis of L-2 hydroxyglutaric aciduria. Amino acid chromatographic analysis revealed an 80-fold increase of hydroxyglutaric acid in the urine. Proton magnetic resonance (MR) spectroscopy of the brain obtained with the hybrid chemical shift imaging sequence (repetition time = 1,500 milliseconds, echo time = 40 milliseconds) revealed prominent peaks resonating at 2.50 ppm, which were attributable to L-2 hydroxyglutaric acid. Diffusion MR imaging was obtained using the echo-planar trace sequence (repetition time = 5,700 milliseconds, echo time = 139 milliseconds). Two different diffusion patterns were evident: a restricted diffusion pattern in the globi pallidi and an increased diffusion pattern in the white matter.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
6/12. Magnetic resonance imaging of the brain in glutaric acidemia type I: a review of the literature and a report of four new cases with attention to the basal ganglia and imaging technique.RATIONALE AND OBJECTIVES: In glutaric acidemia type I (GA I), a pediatric neurometabolic disease that may be mistaken for nonaccidental trauma, expeditious detection is critical as early treatment may substantially improve psychomotor dysfunction. In this study, we examine in depth the magnetic resonance (MR) findings, with special attention to the basal ganglia, in 4 new cases and compare the findings with those described in the literature. methods: MR studies of 4 children, diagnosed to have GA I via cultured fibroblast enzyme studies or urine metabolite assays, were performed on a 1.5 T system in the axial plane using spin echo T(1)-weighted, fast spin echo T(2)-weighted, and fluid-attenuated inversion recovery (FLAIR) technique. Three of 4 patients were followed with serial exams to document temporal evolution of the disease. RESULTS: On T(2)-weighted images, abnormal increased signal intensity was seen in both the putamen and globus pallidus in all cases. However, in contradistinction to cases reported in the literature, involvement of the caudate nucleus was minimal or absent even on serial MR exams. In children 15 months and older, FLAIR improved recognition of basal ganglia and white matter abnormalities. The previously described widened cerebrospinal fluid spaces anterior to the temporal lobes, increased T(2)-weighted signal intensity in the periventricular white matter, and widened sylvian fissures characteristic of GA I were noted in all patients. CONCLUSIONS: Abnormalities of the caudate nucleus are not a prominent presentation of these patients and the absence of this finding should not exclude a diagnosis of GA I. FLAIR scans, as an adjunct to more conventional T(1)- and T(2)-weighted sequences, can play an important role in children 15 months or older despite immature myelination in these patients.- - - - - - - - - - ranking = 2keywords = white (Clic here for more details about this article) |
7/12. Single-voxel MR spectroscopy and diffusion-weighted MRI in two patients with l-2-hydroxyglutaric aciduria.l-2-Hydroxyglutaric aciduria is a rare inherited, neurometabolic disorder. The underlying metabolic defect and the pathophysiology of l-2-hydroxyglutaric aciduria have not yet been defined. We present MR spectroscopy and cranial MR imaging findings, including diffusion-weighted sequences in two male siblings (aged 10 and 12 years). MR spectroscopy revealed a multiplet at 2.10-2.50 ppm and two broad peaks at 0.9-1.6 ppm. The multiplet at 2.10-2.50 ppm might have been created by elevated glutamate and glutamine or l-2-hydroxyglutaric acid itself, which has a similar chemical structure to glutamate. Diffusion-weighted images demonstrated increased diffusion of water molecules in the white-matter lesions.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
8/12. Glutaric aciduria type 1: proton magnetic resonance spectroscopy findings.Glutaric aciduria type 1 is an inborn error of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-coenzyme a dehydrogenase. The disease often appears in infancy with an encephalopathic episode that results in acute basal ganglia and white matter degeneration. The neuroimaging findings in glutaric aciduria type 1 have been well defined. However, the changes in magnetic resonance spectroscopy, a noninvasive tool for identifying the biochemical state of the brain, are scarce in glutaric aciduria type 1. This report presents the magnetic resonance spectroscopy findings in a 19-month-old male with glutaric aciduria type 1. magnetic resonance spectroscopy of right frontal white matter and right lentiform nuclei revealed decreased N-acetylaspartate/creatine ratio, slightly increased choline/creatine ratio, and increased myoinositol/creatine ratio, compared with the age-matched control patients. We thought that these changes were in accordance with neuroaxonal damage, demyelination, and astrocytosis in these areas. In conclusion, proton magnetic resonance spectroscopy provides a tool for assessing metabolic disturbances and the extent of brain damage noninvasively in glutaric aciduria type 1.- - - - - - - - - - ranking = 2keywords = white (Clic here for more details about this article) |
9/12. Glutaric aciduria type I associated with learning disability.The authors report a 7-year-8-months-old boy with glutaric aciduria type I who had associated dyslexia, dysgraphia and dyscalculia. The diagnosis of glutaric aciduria type I was confirmed on the basis of characteristic neuroimaging and biochemical findings. Axial T1-weighted magnetic resonance imaging scan of the brain showed fronto-temporal atrophy, open opercula and bat-wing dilatation of the sylvian fissures. Axial T[2]-weighted and FLAIR imaging showed hyperintense signal abnormality in both putamen and in the fronto-parietal deep white matter. Urinary aminoacidogram by thin layer chromatography revealed a generalized aminoaciduria. Urinary organic acid analysis by gas chromatography- mass spectroscopy revealed a marked excretion of glutaric acid. Psychoeducational testing was used to diagnose the learning disability. We postulate that the accumulation of glutaric acid and other metabolites was responsible for the child developing the associated learning disability.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
10/12. L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings.BACKGROUND: l-2-Hydroxyglutaric aciduria is a rare, infantile-onset, autosomal recessive organic aciduria affecting exclusively the central nervous system. To our knowledge, only 1 complete report of the neuropathological findings in an adult has been published. OBJECTIVE: To present the clinical, neuroimaging, and neuropathological findings of l-2-hydroxyglutaric aciduria. DESIGN: Case report. SETTING: Complexo Hospitalario de Pontevedra, Pontevedra, spain. PATIENT: A 15-year-old boy who had early infantile-onset progressive psychomotor regression, mild choreodystonia affecting the distal part of the upper limbs, pyramidal signs, and epilepsy. RESULTS: The diagnosis of l-2-hydroxyglutaric aciduria was confirmed by the finding of highly elevated levels of l-2-hydroxyglutaric acid in the serum, urine, and cerebrospinal fluid. The neuroimaging findings showed striking confluent subcortical white matter lesions and minimal basal ganglia (pallidum, thalamic, and putaminal) abnormalities. The patient died of a spontaneous mesenteric thrombosis. The postmortem neuropathological findings showed spongiosis and cystic cavitations in subcortical white matter, with minimal abnormalities of the basal ganglia. The dentate nucleus, a structure usually affected in neuroimaging studies, showed minimal neuronal loss but was surrounded by important spongiosis and microvacuolation with astrocytic proliferation. CONCLUSIONS: This case reaffirms that l-2-hydroxyglutaric aciduria is a spongiform type of leukoencephalopathy with cystic cavitations predominating in the subcortical areas. Although the neuroimaging findings are highly characteristic of the disease, in this patient cerebellar abnormalities were minimal and dentate signal abnormalities were not present.- - - - - - - - - - ranking = 2keywords = white (Clic here for more details about this article) |
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