[A case of Wilson's disease studied using magnetic resonance: a new approach?]. / Um caso de doença de Wilson estudado por ressonância magnética: uma nova abordagem?

ABSTRACT

Wilson's disease is a genetically determined disorder of copper metabolism with increased deposition in brain and liver. With current imaging techniques--CT scan and conventional Nuclear Magnetic Resonance (NMR)--it has been possible to demonstrate oedema, neuronal loss and reactive gliosis, but not copper deposition. In the present study we report the observations, done in one patient, using a new high magnetic field (1.5 Tesla) NMR device. In these circumstances, we are able to expand the CT scan analysis by showing not only the oedema and the brain cell death but also the probable existence of copper deposits. Will this be true, it is first instance in which it has been possible to demonstrate, by a non invasive method, increased copper deposition in Wilson's disease. This possibility may be important to monitor the therapeutic efficacy of chelating agents and also to distinguish asymptomatic homozygous patients from heterozygous healthy carriers.