An Atypical Case of Very Early-onset Familial Adenomatous Polyposis Associated With Focal Cortical Dysplasia.
| Autor: | Henry A; Northern Hub-Genetic Health Service NZ., Rajasekaran V; Departments of Paediatric Gastroenterology., Evans HM; Departments of Paediatric Gastroenterology.; Departments of Paediatrics: Child and Youth Health., Strauss M; Departments of Anatomical Pathology., Patel R; Paediatric Neurology, Starship Child Health., Greenslade M; Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland, New Zealand., Roberts AJ; Departments of Paediatric Gastroenterology.; Departments of Paediatrics: Child and Youth Health., Yap P; Northern Hub-Genetic Health Service NZ.; Molecular Medicine and Pathology, University of Auckland. |
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| Jazyk: | angličtina |
| Zdroj: | Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2022 Apr 01; Vol. 44 (3), pp. e743-e746. |
| DOI: | 10.1097/MPH.0000000000002256 |
| Abstrakt: | We describe a female toddler with rectal bleeding from extensive colonic polyposis, and diagnosed with familial adenomatous 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 this case, including the clinical utility of genetic confirmation. 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. Competing Interests: The authors declare no conflict of interest. (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.) |
| Databáze: | MEDLINE |
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