1/7. D-glyceric aciduria in a six-month-old boy presenting with West syndrome and autistic behaviour.D-Glyceric aciduria is a disease with a very heterogeneous group of symptoms, with D-glyceric acid excretion as the chief common characteristic. Findings described in previous patients include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. However, there are also asymptomatic patients with mild neurological impairment. A six-month-old boy was admitted to our clinic with the complaints of dullness to his environment, seizures and autistic behaviour. EEG revealed multifocal generalized epileptic activity in a hypsarrhythmia pattern. Organic acid analysis (GC-MS) in urine revealed increased glyceric acid excretion. Analysis of the optical form of glyceric acid by a polarimetric method supported the diagnosis of D-glyceric aciduria. MRI showed white matter lesions with cerebral atrophy, particularly in the frontotemporal regions, and reversible abnormalities in the mesencephalon, thalami and globus pallidium resolving after fructose restriction in the diet. To our knowledge, this is the first case report of a patient with D-glyceric aciduria who presented with West syndrome and autistic behaviour in whom serial MRI findings are also defined.- - - - - - - - - - ranking = 1keywords = globus (Clic here for more details about this article) |
2/7. 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 = 1keywords = globus (Clic here for more details about this article) |
3/7. Symmetrical necrosis of the basal ganglia in methylmalonic acidaemia.In a patient with methylmalonic acidaemia (MMAA), persistent neurological symptoms were observed in addition to the acute episodes of metabolic dysequilibrium. CT scan and magnetic resonance imaging revealed bilateral symmetrical necrosis of the globus pallidus. Different episodes of metabolic decompensation, one with severe acidosis, had occurred. Persistent neurological symptoms in patients with MMAA who are appropriately treated suggest irreversible brain damage which appears to occur preferentially at the level of the basal ganglia.- - - - - - - - - - ranking = 1keywords = globus (Clic here for more details about this article) |
4/7. 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 = 1keywords = globus (Clic here for more details about this article) |
5/7. creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism.BACKGROUND: The creatine/creatine-phosphate system is essential for the storage and transmission of phosphate-bound energy in muscle and brain. In infants, inefficiency or failure of this metabolic pathway can impair the development of motor control and mentation. methods: We studied and treated an infant with extrapyramidal signs who was shown--by assay for urinary creatinine and by analysis of brain metabolites with use of nuclear magnetic resonance spectra--to have depletion of body and brain creatine, due to inborn deficiency of guanidinoacetate methyltransferase (GAMT). FINDINGS: Long-term oral administration of creatine-monohydrate (4-8 g per day) to this index patient resulted in substantial clinical improvement, disappearance of magnetic resonance (MRI) signal abnormalities in the globus pallidus, and normalisation of slow background activity on the electroencephalogram (EEG). During the 25-month treatment period, both brain and total body creatine concentrations became normal. INTERPRETATION: Oral creatine replacement has proved to be effective in one child with an inborn error of GAMT. It may well be effective in the treatment of other disorders of creatine synthesis.- - - - - - - - - - ranking = 1keywords = globus (Clic here for more details about this article) |
6/7. 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 = globus (Clic here for more details about this article) |
7/7. Methylmalonic acidaemia with bilateral globus pallidus involvement: a neuropathological study.A 16-month-old boy was hospitalized because of a 1-day history of severe ketoacidosis with lethargy, hypotonia, vomiting, and important dyspnoea. Organic acid assay by gas chromatography-mass spectrometry confirmed the diagnosis of methylmalonic acidaemia (MMA). On the sixteenth day, he developed an acute extrapyramidal disorder. The CT scan of the brain disclosed bilaterally symmetric lucency of basal ganglia. He died at 17 months of age. Post-mortem neuropathological examination, showed severe necrosis with spongiosis, cystic cavitation and numerous lipid-laden macrophages of the globi pallidi, and mild spongiosis of subthalamic nuclei, mammillary bodies, portion of internal capsule adjacent to globus pallidus, superior cerebellar peduncles and tegmentum of brainstem. Pallidal infarction, a focal ischaemic lesion, demonstrates that ischaemia/energy depletion may be important in the etiology of the neuropathology of MMA.- - - - - - - - - - ranking = 5keywords = globus (Clic here for more details about this article) |