Wilson´´'s Disease: A case report

Authors

DOI:

https://doi.org/10.18537/RFCM.37.03.07

Keywords:

case reports, copper-transporting atpases, ceruloplasmin, hepatolenticular degeneration

Abstract

ABSTRACT

Wilson's disease is a rare autosomal recessive genetic condition. The ATP7B gene has been identified as the one that encodes the copper transport protein and its deficiency leads to the accumulation of metal in the brain, liver and other vital organs. Your early clinical diagnosis is essential to improve the quality of life of the patient. Following we  present the clinical case of a 20-year-old male patient who since 2 years ago, presented disinhibition, impulsivity, anartria and gait apraxia, facial dystonic movements and in extremities. To the physical exam, Kayser Flescher ring was present. In Brain Magnetic Resonance hyperintensity in Basal Ganglia and Midbrain. Serum Ceruloplasmin 4.08. Serum Copper 26.03. Urinary Cupper 224.30. The diagnosis of Wilson's disease is confirmed, treating with D-Penicillamine, evidencing an adequate evolution, with notable improvement of the neurological symptoms. Early treatment allows a favorable early evolution of the patient, reducing the neurological sequelae secondary to the disease; so that the importance of the report of this case.

Keyword: case reports, hepatolenticular degeneration; copper-transporting atpases; ceruloplasmin.

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Published

2019-12-24

Issue

Vol. 37 No. 3 (2019): Revista de la Facultad de Ciencias Médicas de la Universidad de Cuenca

Section

Clinical Case

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