Case report: a rare case of hereditary colorectal cancer and brain tumor with café au lait spots in a child: constitutional mismatch repair deficiency (CMMRD) syndrome

Case report: a rare case of hereditary colorectal cancer and brain tumor with café au lait spots in a child: constitutional mismatch repair deficiency (CMMRD) syndrome

Abstract Background Colorectal carcinoma (CRC) is rarely seen in the pediatric population. Hereditary cancers due to mismatch repair deficiency cause colorectal, brain, hematological malignancies, and other tumors in early childhood. Case presentation We present an 11-year-old boy who presented with...

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Bibliographic Details
Main Authors: Zubair Khurshid, Mishraz Shaikh, Tarek Talaat Harb Elkadi
Format: Article
Language:English
Published: SpringerOpen 2025-02-01
Series:Egyptian Pediatric Association Gazette
Subjects:
Colorectal carcinoma
CMMRD
Hereditary
MSH6 mutation
Online Access:https://doi.org/10.1186/s43054-025-00348-9
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