Multiple Brain Developmental Venous Anomalies as a Marker for Constitutional Mismatch Repair Deficiency Syndrome

AJNR. American Journal of Neuroradiology
S I ShiranR Dvir

Abstract

Biallelic constitutional mutations in DNA mismatch repair genes cause a distinct syndrome, constitutional mismatch repair deficiency syndrome (CMMRD), characterized by cancers from multiple organs, most commonly brain tumors, during childhood. Surveillance protocols include total and brain MR imaging among other modalities to enable early detection of tumors. Brain surveillance scans revealed prominent brain developmental venous anomalies (DVAs) in some patients. DVAs are benign vascular anomalies, and their incidence in the general population is 2.6%-6.4%. Most developmental venous anomalies are asymptomatic and are found incidentally. Our purpose was to assess the prevalence of DVAs in CMMRD patients and describe their phenotype. A retrospective descriptive analysis of brain MR imaging studies from 10 patients from 3 families with CMMRD was performed. Analysis included the number of developmental venous anomalies, location, draining vessels, and associated vascular anomalies (ie, cavernomas), with clinical correlation of symptoms and tumors. All 10 patients had ≥2 developmental venous anomalies, and 2 had, in addition, non-therapy-induced cavernomas. There was no clinically symptomatic intracranial bleeding from developmental...Continue Reading

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Citations

Jan 12, 2020·Acta neurochirurgica·Lorenzo RinaldoWaleed Brinjikji
Sep 11, 2019·Journal of Medical Genetics·Helen ToledanoYael Goldberg
May 2, 2020·AJNR. American Journal of Neuroradiology·A KerpelC Hoffmann
Jul 10, 2020·Neuro-oncology Advances·Léa Guerrini-RousseauLaurence Brugières
Nov 30, 2019·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Meghan ConnorsShih-Shan Lang
Oct 24, 2020·AJNR. American Journal of Neuroradiology·A F GeraldoM Severino
May 1, 2021·International Journal of Molecular Sciences·Cristina CarratoEva Musulen

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