Unlabelled: We report the case of a male patient with Miller-Dieker syndrome (MDS) and gallbladder cancer. Chromosome analysis by fluorescence in situ hybridization revealed a deletion in the 17p13.3 region, an area thought to contain tumour suppressor genes, including the hypermethylated in cancer 1 gene. Considering the rarity of gallbladder cancer in children, we propose that MDS as the genetic background of this patient may have played a role in the occurrence of gallbladder cancer.
Conclusion: Our present report indicates that the emergence of cancers should be taken into consideration during the long-term follow-up of patients with MDS.
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