Vein of Galen malformation presenting as progressive macrocephaly in a 12-month-old girl: A case report

Vein of Galen malformations represent about 30% of pediatric vascular abnormalities. Depending on the type, they can present insidiously with macrocephaly in the absence of other symptoms and are often misdiagnosed as benign, especially if not captured by initial imaging. The objective of this case...

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Main Author: Lindsey Cortes
Format: Article
Language:English
Published: SAGE Publishing 2025-08-01
Series:SAGE Open Medical Case Reports
Online Access:https://doi.org/10.1177/2050313X251364367
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author Lindsey Cortes
author_facet Lindsey Cortes
author_sort Lindsey Cortes
collection DOAJ
description Vein of Galen malformations represent about 30% of pediatric vascular abnormalities. Depending on the type, they can present insidiously with macrocephaly in the absence of other symptoms and are often misdiagnosed as benign, especially if not captured by initial imaging. The objective of this case report is to highlight this malformation to avoid incorrect diagnoses leading to a delay in proper treatment. Herein, a 12-month-old female developed progressive macrocephaly without loss of developmental milestones or focal deficits. Initial diagnostic testing with ultrasound revealed benign extra-axial fluid as the etiology at 6 months of age. With the continued progression of her macrocephaly accompanied by prominent scalp veins, magnetic resonance imaging of the brain revealed a dilated vein of Galen. The patient underwent successful cerebral embolization of a mural type vein of Galen malformation with stabilization of her head circumference by 18 months of age. This case demonstrates a clinician’s need to maintain a high index of suspicion and broad differential for children with worsening macrocephaly despite normal neurodevelopment and/or initial imaging. Recognized vein of Galen malformations are infrequently encountered in the pediatric setting as an etiology of a very common finding in infancy, macrocephaly.
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spelling doaj-art-b045bb19cfa34d2d920a37a92ac815fd2025-08-20T04:01:08ZengSAGE PublishingSAGE Open Medical Case Reports2050-313X2025-08-011310.1177/2050313X251364367Vein of Galen malformation presenting as progressive macrocephaly in a 12-month-old girl: A case reportLindsey Cortes0Department of General Pediatrics, UT Health San Antonio, TX, USAVein of Galen malformations represent about 30% of pediatric vascular abnormalities. Depending on the type, they can present insidiously with macrocephaly in the absence of other symptoms and are often misdiagnosed as benign, especially if not captured by initial imaging. The objective of this case report is to highlight this malformation to avoid incorrect diagnoses leading to a delay in proper treatment. Herein, a 12-month-old female developed progressive macrocephaly without loss of developmental milestones or focal deficits. Initial diagnostic testing with ultrasound revealed benign extra-axial fluid as the etiology at 6 months of age. With the continued progression of her macrocephaly accompanied by prominent scalp veins, magnetic resonance imaging of the brain revealed a dilated vein of Galen. The patient underwent successful cerebral embolization of a mural type vein of Galen malformation with stabilization of her head circumference by 18 months of age. This case demonstrates a clinician’s need to maintain a high index of suspicion and broad differential for children with worsening macrocephaly despite normal neurodevelopment and/or initial imaging. Recognized vein of Galen malformations are infrequently encountered in the pediatric setting as an etiology of a very common finding in infancy, macrocephaly.https://doi.org/10.1177/2050313X251364367
spellingShingle Lindsey Cortes
Vein of Galen malformation presenting as progressive macrocephaly in a 12-month-old girl: A case report
SAGE Open Medical Case Reports
title Vein of Galen malformation presenting as progressive macrocephaly in a 12-month-old girl: A case report
title_full Vein of Galen malformation presenting as progressive macrocephaly in a 12-month-old girl: A case report
title_fullStr Vein of Galen malformation presenting as progressive macrocephaly in a 12-month-old girl: A case report
title_full_unstemmed Vein of Galen malformation presenting as progressive macrocephaly in a 12-month-old girl: A case report
title_short Vein of Galen malformation presenting as progressive macrocephaly in a 12-month-old girl: A case report
title_sort vein of galen malformation presenting as progressive macrocephaly in a 12 month old girl a case report
url https://doi.org/10.1177/2050313X251364367
work_keys_str_mv AT lindseycortes veinofgalenmalformationpresentingasprogressivemacrocephalyina12montholdgirlacasereport