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An atypical case of very early-onset familial adenomatous polyposis associated with focal cortical dysplasia
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  • Asher Henry,
  • Vivek Rajasekaran,
  • Helen Evans,
  • Magreet Strauss,
  • Rakesh Patel,
  • Mark Greenslade,
  • Amin Roberts,
  • Patrick Yap
Asher Henry
Starship Children's Health

Corresponding Author:[email protected]

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Vivek Rajasekaran
Starship Children's Health
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Helen Evans
Starship Children's Health
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Magreet Strauss
Auckland City Hospital
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Rakesh Patel
Starship Children's Health
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Mark Greenslade
Auckland City Hospital
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Amin Roberts
Starship Children's Health
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Patrick Yap
Auckland City Hospital
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Abstract

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.