Article

An atypical case of very early-onset familial adenomatous polyposis associated with focal cortical dysplasia

2024-01-30

Abstract excerpt

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...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 19ff3b64-bae6-5064-87b1-c4c2e65e9fc6
DOI: 10.22541/au.170664985.53983707/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 10 closest

An atypical case of very early-onset familial adenomatous polyposis associated with focal cortical dysplasiaDOI 10.22541/au.170664985.53983707/v1Read

Hepatoblastoma in patients with molecularly proven familial adenomatous polyposis: Clinical characteristics and rationale for surveillance screeningSemantic proximity Read

Could APC gene screening be useful in children with hepatoblastoma? Early onset of adenocarcinoma in a child with familial adenomatous polyposis and hepatoblastoma.Semantic proximity Read

Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility.Semantic proximity Read

Hereditary flat adenoma syndrome: a variant of familial adenomatous polyposis?Semantic proximity Read

The spectrum of APC mutations in children with hepatoblastoma from familial adenomatous polyposis kindreds.Semantic proximity Read

Autistic traits in youth with familial adenomatous polyposis: A Dutch-Canadian case-control study.Semantic proximity Read

Neonatal Gardner fibroma: a sentinel presentation of severe familial adenomatous polyposis.Semantic proximity Read

APC conditional knock-out mouse is a model of infantile spasms with elevated neuronal β-catenin levels, neonatal spasms, and chronic seizures.Semantic proximity Read

Florid oral manifestations in an atypical familial adenomatous polyposis family with late presentation of colorectal polyps.Semantic proximity Read

Non-penetrance and late appearance of polyps in families with familial adenomatous polyposis.Semantic proximity Read