Thrombocytopenia, dyspnea and cough, systemic lupus erythematosus or hepatolenticular degeneration? / 中华实用儿科临床杂志

ABSTRACT

A 13-year-old girl initially complained of thrombocytopenia 3 years ago and had positive antinuclear antibody(ANA),weakly positive anti-double-stranded (anti-ds) DNA antibodies and decrease of C3 1 month ago.She was admitted to the ward following dyspnea and intermittent cough for three days this time.The initial diagnosis was systemic lupus erythematosus (SLE).The clinical manifestation after admission involved multiple organs such as liver,kidney and spleen.However,cirrhosis could not be explained by SLE.Besides,anti-dsDNA as a specific index for SLE was only weakly positive in this case and the decrease of C3 was independent to activity of the disease.Abnormal signals in bilateral basal ganglia confirmed by MRI could not be explained by SLE,either.Therefore,the initial diagnosis as SLE was suspicious.Further laboratory test showed low ceruloplasmin and increased 24 urine Cu to correct the diagnosis as hepatolenticular degeneration (HLD) and pulmonary infection.Gene sequence analysis revealed heterozygous mutation in ATP7B gene (a splice site mutationc.1708-5T ＞ G;a missense mutationc.2333G ＞ T,p.Arg778Leu).HLD should be suspected in any patient with liver abnormalities of uncertain causes along with involvement of multiple systems.Gene sequence analysis is helpful to early diagnosis of HLD.