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Asher Henry
Asher Henry

Public Documents 1
An atypical case of very early-onset familial adenomatous polyposis associated with f...
Asher Henry
Vivek Rajasekaran

Asher Henry

and 7 more

January 30, 2024
We describe a female toddler with rectal bleeding from extensive colonic polyposis. She has epilepsy from infancy attributed to focal cortical dysplasia. Hepatoblastoma was diagnosed at 13 months of age. Germline testing detected a pathogenic APC (adenomatous polyposis coli gene) variant. We discuss the anecdotal management of an atypical, very early-onset symptomatic Familial adenomatous polyposis (FAP) case, and the clinical utility of genetic confirmation in such cases. We review the genotype-phenotype correlation of the APC mutational spectrum, and the existing evidence supporting the hypothesis that cortical dysplasia is part of the APC-related spectrum.

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