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Cowden Syndrome in Childhood: Gastrointestinal Involvement in a Multisystem Genetic Disorder-A Case Report
Maria Rogalidou1, Nikolaos Katzilakis2, Kalliopi Stefanaki3
1Division of Gastroenterology & Hepatology, First Department of Paediatrics, National and Kapodistrian, University of Athens 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece.
Cowden syndrome, a PTEN-related disorder, frequently causes gastrointestinal hamartomatous polyps in children. Early endoscopic surveillance is vital for detecting and managing these polyps to prevent complications.
Area of Science:
- Genetics and Oncology
- Pediatric Gastroenterology
Background:
- Cowden syndrome is an autosomal dominant disorder caused by PTEN gene mutations.
- It leads to hamartomas and increased cancer risk (breast, thyroid, endometrium, GI tract).
- Pediatric cases may present with macrocephaly, intellectual disability, and frequent GI polyps.
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