Neurology
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Observational Study
Brain white matter volume abnormalities in Lesch-Nyhan disease and its variants.
We sought to examine brain white matter abnormalities based on MRI in adults with Lesch-Nyhan disease (LND) or an attenuated variant (LNV) of this rare, X-linked neurodevelopmental disorder of purine metabolism. ⋯ Despite earlier reports that LND primarily involves the basal ganglia, this study reveals substantial white matter volume abnormalities. Moreover, white matter deficits are more severe than gray matter deficits in classic LND, and also characterize persons with LNV. The brain images acquired for these analyses cannot precisely localize white matter abnormalities or determine whether they involve changes in tract orientation or anisotropy. However, clusters of reduced white matter volume identified here affect regions that are consistent with the neurobehavioral phenotype.
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Complex regional pain syndrome (CRPS) presents with clinical symptoms that can no longer be explained by the initial trauma, including pain, sensory, motor, and trophic symptoms, and impairment of autonomic control of the limb. These symptoms spread distally and go beyond single nerve innervation territories. Typically, the symptoms change through the course of CRPS as a result of the varying pathophysiology. ⋯ Invasive treatment should be restricted to special cases and only offered after psychosomatic assessment. If these recommendations are followed, CRPS prognosis is not as poor as commonly assumed. Whether the patients can return to their previous life depends on particular individual factors.