Acute liver failure as the first symptom of childhood systemic lupus erythematosus: a case report and review of the literature.
Yutong Song, Jing Hao
✦ AI-curated · Sources linked
Case in brief
A 9-year-old Chinese girl presented with acute liver failure as the initial manifestation of systemic lupus erythematosus (SLE), without typical skin or joint features. Liver pathology and positive lupus-specific serological antibodies supported the diagnosis; genetic sequencing also identified a TREX1 c.740C > T (p.A247V) mutation. Her condition improved after treatment.
What made this case unusual
The presentation was acute liver failure without typical lupus features, alongside the reported TREX1 mutation. The authors describe this as the first reported pediatric case of SLE presenting this way with that mutation.
Diagnostic / clinical pearl
In a child with unexplained acute liver failure, SLE may be present even without skin or joint manifestations; liver pathology and lupus-specific serology can help establish the diagnosis.