Article
New mutation of the ceruloplasmin gene in the case of a neurologically asymptomatic patient with microcytic anaemia, obesity and supposed Wilson's disease.
BMC gastroenterology - 7 Apr 2020
Ondrejkovičová Mária, Dražilová Sylvia, Drakulová Monika, Siles Juan López, Zemjarová Mezenská Renáta, Jungová Petra, Fabián Martin, Rychlý Boris, Žigrai Miroslav
Abstract excerpt
BACKGROUND: Aceruloplasminaemia is a very rare autosomal recessive disorder caused by a mutation in the ceruloplasmin gene, which is clinically manifested by damage to the nervous system and retinal degeneration. This classical clinical picture can be preceded by diabetes mellitus and microcytic anaemia, which are considered to be early manifestations of aceruloplasminaemia. CASE PRESENTATION: In our report, we...
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