AI Article Synopsis

  • Wilson's disease (WD) is a genetic disorder caused by mutations in the ATP7B gene, leading to harmful copper accumulation in various organs and potentially causing organ failure.
  • A case study of a 15-year-old boy highlights how undiagnosed and untreated WD resulted in severe liver damage and various complications, ultimately leading to his death.
  • Genetic testing confirmed the diagnosis of WD and revealed that he had a homozygous H1069Q mutation, supporting the clinical findings from his autopsy.

Article Abstract

Wilson's disease (WD) is an autosomal recessive genetic disorder caused by more than 50 different mutations in the APT7B gene. A defect in the gene product results in copper accumulation mainly in the liver, basal ganglia in the brain, cornea, kidneys, and heart, leading to dysfunction and eventually organ failure. We present a case of a 15-year-old male with a minority background who did not receive any form of treatment and ultimately succumbed to the disease. He was previously hospitalized due to suspected autoimmune-mediated acute liver failure (ALF) with positive antinuclear autoantibodies. Abdominal ultrasound revealed uneven contours and diffusely abnormal structure of the liver, interpreted as liver cirrhosis (LC), and splenomegaly. In view of WD as a potential differential diagnosis, a genetic consultation recommended the performance of genetic testing. The patient received symptomatic and corticosteroid therapy and was discharged from the hospital with improved general status. Three days later, the teen experienced deterioration and was readmitted to the hospital in a critical state. Reanimation measures had a temporary effect and ultimately exitus letalis was registered. The autopsy study revealed mixed micronodular and macronodular LC, chronic steatohepatitis, hepatosplenomegaly, ascites, icterus, gynecomastia, telangiectasias, subcutaneous hemorrhages, absence of male pattern body hair, hypogonadism, and chronic calculous cholecystitis as a result of untreated WD. Complications of the main disease appeared to be hepatorenal syndrome, severe bilateral purulent-hemorrhagic pneumonia probably with mixed etiology, acute cardiac failure with congestive changes in all internal organs, pleural and pericardial effusions, pulmonary edema, and cerebral edema with tonsillar herniation. The ATP7B gene sequencing supported the clinical diagnosis and the autopsy suspicion of WD, showing that the boy was homozygous for an H1069Q mutation.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11457893PMC
http://dx.doi.org/10.7759/cureus.68838DOI Listing

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