[Wilson disease. Report of a case of autopsy with copper tissue quantification and electronic microscopy]

Wilson's disease is a rare autosomal recessive disorder of copper metabolism. Kinnear Wilson described the entity in 1912 and considered it to be a degenerative disorder of the central nervous system associated with asymptomatic cirrhosis. Gene linkage analysis has localized the genetic defect on chromosome 13.

Woman of 15 years of age. She began with amenorrhea at 8 months of evolution, and acholia and hepatomegaly 1 month before her death. The viral serology panel was negative. She evolved with severe hepatic insufficiency and died. The quantitation of copper dose postmortem in hepatic tissue by atomic absorption spectrophotometry resulted in 250.57 micrograms/g. Electronic microscopy showed dense bodies in the mitochondria. Young adolescents frequently develop hepatic insufficiency as a first manifestation of Wilson's disease. Histologically, some morphology data such as the glucogenized naked nuclei, microvesticular fatty change, Mallory bodies, and hepatic regeneration, but the definitive diagnosis was decreased serum ceruloplasmin level, quantitation of copper in tissue, electron microscopy, and more recently, the molecular biology or genetic alterations.