Wilson's disease is a rare autosomal recessive disorder of copper metabolism. The main features reflect copper accumulation in all organs, especially liver, cornea, kidneys and basal ganglia. The disease may present with hepatic or neurologic symptoms. Neurologically, extrapyramidal features are evident (75% of cases); in the remaining 25% of patients cerebellar symptoms prevail (Westphal-Strümpell pseudosclerosis). Our MR study in 13 patients shows the importance of the method for diagnosis. MR investigation in Wilson's disease shows polymorphic features with involvement of both the deep grey matter and the white matter and brain stem. Although there are no pathognomonic brain lesions, our 11 symptomatic cases show frequent bilateral symmetrical involvement of the deep nuclei. PD-weighted spin echo and T2-weighted sequences and FLAIR proved particularly useful in displaying signal abnormalities in the nuclei of the putamen, caudate, the lateral parts of the thamali, pallidi and dentate. Areas of signal alteration may also be found in the white matter, usually along the extrapyramidal pathways and in particular along the pontocerebellar and dentorubrothalamic segments with respect to involvement of the pyramidal pathways. Further areas of involvement of the white matter encountered in our patients include the retrotrigonal regions, internal medullary lamina of the thalamus and splenium of the corpus callosum. The more common deposits in the cerebellar white matter were not seen. Seven of our patients presented the characteristic "panda" sign comprising hyperintensities in long TR images of the mesencephalon with preserved hypointensity of the cerebral peduncles and red nuclei, lateral portion of the pars reticulata and black substance and superior colliculi. In some cases a signal alteration was noted in the red nuclei, whereas others presented features of "central myelinosis" differing in severity. Cortical atrophy was more commonly encountered in a supratentorial rather than subtentorial location; brain stem atrophy was less common and usually found in patients with Westphal-Strümpell pseudosclerosis. MR investigation is equally important in follow-up after treatment and will disclose total or partial regression of brain lesions correlating with clinical findings.
Wilson's disease: MRI findings in 13 cases
Di Salle F.;Pellecchia M. T.;
2001-01-01
Abstract
Wilson's disease is a rare autosomal recessive disorder of copper metabolism. The main features reflect copper accumulation in all organs, especially liver, cornea, kidneys and basal ganglia. The disease may present with hepatic or neurologic symptoms. Neurologically, extrapyramidal features are evident (75% of cases); in the remaining 25% of patients cerebellar symptoms prevail (Westphal-Strümpell pseudosclerosis). Our MR study in 13 patients shows the importance of the method for diagnosis. MR investigation in Wilson's disease shows polymorphic features with involvement of both the deep grey matter and the white matter and brain stem. Although there are no pathognomonic brain lesions, our 11 symptomatic cases show frequent bilateral symmetrical involvement of the deep nuclei. PD-weighted spin echo and T2-weighted sequences and FLAIR proved particularly useful in displaying signal abnormalities in the nuclei of the putamen, caudate, the lateral parts of the thamali, pallidi and dentate. Areas of signal alteration may also be found in the white matter, usually along the extrapyramidal pathways and in particular along the pontocerebellar and dentorubrothalamic segments with respect to involvement of the pyramidal pathways. Further areas of involvement of the white matter encountered in our patients include the retrotrigonal regions, internal medullary lamina of the thalamus and splenium of the corpus callosum. The more common deposits in the cerebellar white matter were not seen. Seven of our patients presented the characteristic "panda" sign comprising hyperintensities in long TR images of the mesencephalon with preserved hypointensity of the cerebral peduncles and red nuclei, lateral portion of the pars reticulata and black substance and superior colliculi. In some cases a signal alteration was noted in the red nuclei, whereas others presented features of "central myelinosis" differing in severity. Cortical atrophy was more commonly encountered in a supratentorial rather than subtentorial location; brain stem atrophy was less common and usually found in patients with Westphal-Strümpell pseudosclerosis. MR investigation is equally important in follow-up after treatment and will disclose total or partial regression of brain lesions correlating with clinical findings.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
