López HMA, Serrano RM

Language: Spanish
References: 17
Page: 458-463
PDF size: 317.66 Kb.

ABSTRACT

A case of Wilson disease in a woman of 22 years is reported. There are only antecedents of primary amenorrhea with the diagnose at the 17 years old of polycystic ovarian. The disease has 2 years of evolution with progressive heavy tremor of right hand, sialorrea, rigidity of left arm and dysphagia. In the ophtalmologic examination was found the Kayser-Fleischer ring. The MRI showed diffuse hyperintensity of basal ganglia and degeneration of lenticular nucleus, compatible with Wilson´s disease. The liver biopsy shown macronodular cirrhosis with regeneration nodules and minimum activity data. It was made genomic sequence of DNA that showed homozygotic mutation for the amino acids sequence H1069Q, and c3207C›a in the exon 14 of gene ATP7B. The patient received treatment of 8 weeks with ammonium tetratiomolibdate, zinc acetate and D-penicilamine with improvement of the neurologic symptoms.

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