Fetal MRI demonstrating vein of Galen malformations in two successive pregnancies—a previously unreported occurrence

Kwong, Yune; Cartmill, Maria; Jaspan, Tim; Suri, Mohnish

doi:10.1007/s00381-015-2750-2

Cited by 14 publications

(13 citation statements)

References 9 publications

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“…Most cases involved loss-of-function variants (Figure 1), which is consistent with the type of variants commonly reported in postnatal cases (Revencu et al, 2008;Revencu et al, 2013;Wooderchak-Donahue et al, 2018). Three had a missense variant, but these were most likely benign, considering they were identified either in combination with a loss-of-function variant (ID 24, Revencu et al, 2013) or inherited from an asymptomatic mother in fetuses that were not tested for EPHB4 (Kwong et al, 2015).…”

supporting

confidence: 72%

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Prenatal pleural effusions and chylothorax: An unusual presentation for CM‐AVM syndrome due to RASA1

DʹAmours

Brunel‐Guitton

Delrue

et al. 2020

American J of Med Genetics Pt A

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Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is an autosomal dominant condition characterized by multiple small capillary malformations (CM) and arteriovenous malformations (AVM) or arteriovenous fistulas (AVF). Prenatal presentation is a rare occurrence. Here, we report a young girl without AVM, who presented prenatally with polyhydramnios, pyelectasis, and pleural effusions. Postnatally, she had congenital chylothorax, growth retardation, and capillary malformations. Genetic testing identified a de novo pathogenic RASA1 variant. This case illustrates the highly variable phenotype of CM-AVM syndrome and suggests that it is likely underdiagnosed. A 41-year-old mother was referred to prenatal genetics for unilateral pleural effusion at 32 weeks of gestation. She was a healthy G4P1A1 who previously had a healthy 4-year-old girl and a miscarriage. The father was known for cluster headaches and the mother's brother died at 2 months after a fever. The current pregnancy was uneventful, with normal nuchal translucency and low-risk integrated trisomy 21 screening. Morphology ultrasound at 21 2/7 weeks showed right kidney pyelectasis and was otherwise normal. Control ultrasound at 32 weeks showed mild to moderate left pleural effusion, without any other abnormalities, including normal kidneys. Fetal cardiac ultrasound (32 3/7 weeks) was normal. Amniocentesis was declined. Non-invasive prenatal testing showed a low risk for trisomies 13, 18, and 21, and maternal

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supporting

confidence: 72%

“…Prenatal presentation of CM-AVM is unusual. A total of 15 cases have been reported so far (Table 1; Durrington et al, 2013;Grillner et al, 2016;Kwong et al, 2015;Macmurdo et al, 2016;Overcash et al, 2015;Revencu et al, 2013;Saliou et al, 2017), most of them presenting with intracranial AVM or AVF detected on ultrasound (10/15).…”

mentioning

confidence: 99%

Prenatal pleural effusions and chylothorax: An unusual presentation for CM‐AVM syndrome due to RASA1

DʹAmours

Brunel‐Guitton

Delrue

et al. 2020

American J of Med Genetics Pt A

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“…Fetal MRI is now the preferred modality for diagnosing fetal central nervous system (CNS) abnormalities because of its advantages over ultrasonography[ 2 , 27 , 28 ]. Prenatal MRI and MR angiography can identify the prognostic factors (cardiac failure, polyhydramnios, pericardial and pleural effusion, ascites, fetal hydrops, and brain injury) that affect prenatal counseling and aid in delineating the blood supply to the lesion for planning postnatal management[ 2 , 27 - 29 ]. Yuval et al[ 15 ], while enumerating the prognostic features for VGAMs have suggested that neonates with cardiomegaly, dilated vena cava or jugular vein, retrograde aortic flow and multiple feeder arteries may have a better prognosis if there is immediate intervention.…”

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confidence: 99%

Vein of Galen malformation in a neonate: A case report and review of endovascular management

Puvabanditsin

Mehta

Palomares

et al. 2017

WJCP

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Vein of Galen malformation (VOGM) is a rare congenital vascular malformation caused by the maldevelopment of its embryonic precursor, the median prosencephalic vein of Markowski. VOGM results in neonatal morbidity and mortality, and premature delivery does not improve the outcome. We report a term female neonate in whom a vein of Galen malformation was diagnosed prenatally at 37 wk of gestation during a growth ultrasound and confirmed by fetal magnetic resonance imaging. Signs of cardiac decompensation were evident in the fetus. Multiple interventional radiology embolizations of the feeding vessels were performed successfully on days 7, 10, 12, 14 and 19. A review of the literature on the endovascular management of neonates with these malformations is presented herein.

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“…Согласно данным литературы, у мальчиков АВГ встречается примерно в 2 раза чаще по сравнению с девочками [12,13]. Вероятность рождения ребенка с АВГ при последующих беременностях чрезвычайно мала [14]. Выявленные в отдельных наблюдениях АВГ мутации генов ENG (эндоглина) [15] и RASA1 [16] не могут служить доказательством генетической природы данной мальформации.…”

unclassified

“…В последние годы высокоэффективным методом диагностики АГМ у плода считается магнитно-резонансная томография [26,27]. По сравнению с УЗИ МРТ-исследование имеет ряд преимуществ, поскольку позволяет выявить особенности строения сосудистых мальформаций [14], а также сочетанные аномалии развития головного мозга [28]. Применение пренатальной МРТ рекомендуется и для дифференциальной диагностики АВГ [26,27].…”

unclassified

Galen Vein Aneurysm in a Newborn: Postmortem MSCT With Contrast Enhancement of Vessels Within the Autopsy

Туманова¹,

Perinatology²,

Lyapin³

et al. 2019

Rejr

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атериалы и методы. Проанализированы данные литературы и приведено собственное наблюдение новорожденной девочки с аневризмой вены Галена. В литературе термином аневризма вены Галена обозначают различные мальформации сосудов головного мозга, сопровождающиеся расширением вены Галена. В представленном наблюдении при УЗИ беременной на сроке 30 недель беременности у плода была выявлена аневризма вены Галена. На сроке 33 недели, в связи с началом родовой деятельности и развитием нарушений маточно-плацентарного кровотока, проведено родоразрешение путем операции кесарева сечения. Несмотря на проведение интенсивной терапии, в возрасте 2 суток 15 часов 46 минут наступила смерть новорожденной. По данным клинического обследования, а также посмертного лучевого и аутопсийного исследований выявлены аневризма вены Галена, поражения головного мозга и миогенная дилатация полостей сердца. Существенным моментом проведенного комплексного аутопсийного исследования следует считать выполнение посмертной КТ с контрастным усилением, позволившим провести неинвазивный объективный и четкий анализ патологии кровеносных сосудов и верификацию аневризмы вены Галена III типа. Результаты и выводы. Следовательно, проведение посмертной КТ с введением рентгенконтрастного вещества существенно повышает эффективность патологоанатомического исследования тела новорожденного с аномалиями развития кровеносных сосудов. Ключевые слова: аневризма вены Галена, аутопсия, посмертная КТ с контрастным усилением.

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Fetal MRI demonstrating vein of Galen malformations in two successive pregnancies—a previously unreported occurrence

Abstract: This case demonstrates that fetal MRI is a powerful tool in the investigation of in utero neurovascular malformations. A genetic mutation was identified, but this was of uncertain significance.

Cited by 14 publications

References 9 publications

Prenatal pleural effusions and chylothorax: An unusual presentation for CM‐AVM syndrome due to RASA1

Prenatal pleural effusions and chylothorax: An unusual presentation for CM‐AVM syndrome due to RASA1

Vein of Galen malformation in a neonate: A case report and review of endovascular management

Galen Vein Aneurysm in a Newborn: Postmortem MSCT With Contrast Enhancement of Vessels Within the Autopsy

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