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Oxf Med Case Reports
; 2014(1): 16-7, 2014 Apr.
Artículo
en Inglés
| MEDLINE
| ID: mdl-25988011
RESUMEN
Wilson's disease is an inborn error of metabolism characterized by inability to excrete copper into the bile, with excessive deposition of copper into the eyes, liver and brain. Lentiform nuclei are involved most commonly, but involvement of thalamus, midbrain and pons results in certain characteristic radiological signs on neuroimaging. Atrophy of cerebral and cerebellar cortex is also common yet under-recognized. Identification of these signs helps in the diagnosis in appropriate clinical setting.