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FLAIR-image shows hyperintensities in the occipitoparietal subcortical white matter not sparing the u-fibers. 

FLAIR-image shows hyperintensities in the occipitoparietal subcortical white matter not sparing the u-fibers. 

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Figure 1. FLAIR-image shows hyperintensities in the occipitoparietal...
Table 1 . Metabolic investigations of our patient
Figure 2. Spinecho T2-weighted images in the same localisation for...
Figure 3. STEAM-spectroscopy (TR:1500ms,TE:30ms) of the...
CASE REPORT - Ornithine transcarbamylase deficiency in a girl with hyperkinetic behaviour
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  • Apr 2004
Congenital ornithine transcarbamylase deficiency (OTCD, OMIM 311250, Xp21.1) in humans results in hyperammonaemia with subsequent neurological symptoms including hypotonia, seizures and mental retardation. At the age of 3 years a hyperkinetic-hyperactive behaviour disorder of unknown origin was diagnosed in our female patient. The girl, ultimately...
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Context 1
... magnetic resonance imaging (MRI) and spectroscopy were performed (Figures 1-3). T2- weighted MRI showed an increased signal in the subcortical cerebral white matter (u-fibers) and a cerebellar atrophy. ...
Context 2
... evaluations from Butterworth 1,3,4). These alterations suggest that the severe cognitive dysfunction in congenital OTCD may at least partly result from a muscarinic- cholinergic lesion. ...