Objective:

To describe the simultaneous presentation of Wilson’s disease in a patient with Peutz-Jeghers syndrome.

Case presentation:

Female patient diagnosed with Peutz-Jeghers syndrome at seven years of age (positive family history, mucocutaneous hyperpigmentation and disseminated polyposis). Subsequently, for four years, transaminasemia was observed, and when the etiology was not identified, she was sent to a third-level hospital. Within the diagnostic approach, infectious and autoimmune causes were ruled out, so a liver biopsy was performed, which revealed data compatible with Wilson’s disease. Then, this entity was confirmed with low levels of ceruloplasmin, high urinary copper, as well as elevated liver copper. Treatment with D-penicillamine was started and three months later a decrease in liver enzymes was obtained.

Conclusions:

This is the first reported case that Peutz-Jeghers syndrome with Wilson disease occurs in the same patient.