Constitutional mismatch repair deficiency (CMMRD) presenting with high-grade glioma, multiple developmental venous anomalies and malformations of cortical development-a multidisciplinary/multicentre approach and neuroimaging clues to clinching the diagnosis.

doi:10.1007/s00381-020-04986-9

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Constitutional mismatch repair deficiency (CMMRD) presenting with high-grade glioma, multiple developmental venous anomalies and malformations of cortical development-a multidisciplinary/multicentre approach and neuroimaging clues to clinching the diagnosis.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Jul 2021

Chhabda Sahil, Sudhakar Sniya, Mankad Kshitij, Jorgensen Mette, Carceller Fernando, Jacques Thomas S, Merve Ashirwad, Aizpurua Miren, Chalker Jane, Garimberti Elisa, D'Arco Felice

Abstract excerpt

Constitutional mismatch repair deficiency syndrome (CMMRD) is a rare cancer-predisposition syndrome associated with a high risk of developing a spectrum of malignancies in childhood and adolescence, including brain tumours. In this report, we present the case of an 8-year-old boy with acute headache, vomiting and an episode of unconsciousness in whom brain imaging revealed a high-grade glioma (HGG). The...

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PMID: 33247381
DOI: 10.1007/s00381-020-04986-9

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