Introduction: The most frequent malignancies observed on adult with Down syndrome are lymphoblastic and myeloblastic leukemia. The incidence and the relationship between gallbladder cancer and Down syndrome is unknown.
Case presentation: We report a rare case of a 25-year-old male with Down syndrome who consulted to the emergency because of deterioration in overall health associated with post-meal food vomiting, abdominal distension and diffuse abdominal pain. CECT scan reveal suspicious locally advanced parietal tissue thickening of the gallbladder, associated with peritoneal carcinosis, and a bilateral massive pulmonary embolism, in addition to a large bilateral pleurisy and moderate pericardial effusion. The patient died three weeks later.
Discussion: Solid tumors are rare among population with Down syndrome, especially gallbladder cancer.
Main risk factors are: cholelithiasis and gallbladder abnormalities, which are frequent in these patients. Management of this lethal disease depends on precocity of diagnosis. For this we suggest an abdominal ultrasound in children with DS to screen previously cholelithiasis and prevent this fatal cancer.
Conclusion: Some Authors found that the rate of gallbladder disease especially cholelithiasis, was 25% among Down syndrome group, compared to 4.5% among the control group (p = 0.002). We suggest that cholelithiasis is the main risk factor of gallbladder cancer in this population. However, other prospective studies should be accomplished so as to confirm this outcome.
Keywords: Case report; Cholelithiasis; Down syndrome; Gallbladder cancer; Malignancies.
© 2022 The Authors.