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.