Abstract
Purpose
Vein of Galen malformations are rare and are usually detected in utero using ultrasonography. No definite genetic predisposition has been described in the literature. We present a case with two successive pregnancies complicated by vein of Galen malformations, which were assessed using fetal MRI. The putative role of genetic mutations is also discussed.
Methods
A 30-year-old primigravida presented in the third trimester with a fetus diagnosed with vein of Galen malformation on sonography. MRI and MR angiography were performed for further assessment. The subsequent pregnancy was again complicated by vein of Galen malformation. In addition to MRI, genetic analysis was carried out on both fetuses and on the parents.
Results
MR angiography revealed that both fetuses suffered from the choroidal sub-type of vein of Galen malformation, with multiple arterial feeders fistulating onto a midline venous pouch. The visualised anatomy obtained was far superior than on sonography and allowed categorisation of vein of Galen malformation sub-type. Genetic analysis on the mother and both fetuses showed variant RASA1 gene mutation.
Conclusions
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.
This is a preview of subscription content, log in via an institution to check access.
References
Glenn OA (2006) Fetal central nervous system MR imaging. Neuroimaging Clin N Am 16(1):1–17
Alvarez H, Garcia Monaco R, Rodesch G, Sachet M, Krings T, Lasjaunias P (2007) Vein of Galen aneurysmal malformations. Neuroimaging Clin N Am 17(2):189–206
Bhattacharya JJ, Thammaroj J (2003) Vein of Galen malformations. J Neurol Neurosurg Psychiatr 74(1):i42–i44
Zhang J, Claterbuck RE (2008) Molecular genetics of human intracranial aneurysms. Int J Stroke 3(4):272–287
Brouillard P, Vikkula M (2007) Genetic causes of vascular malformations. Hum Mol Genet 16
Tsutsumi Y, Kosaki R, Itoh Y, Tsukamoto K, Matsuoka R, Shintani M, Nosaka S, Masaki H, Iizuka Y (2011) Vein of Galen Aneurysmal Malformation Associated With Spec No. 2:R140-149
Revencu N, Boon LM, Mulliken JB et al (2008) Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat 29(7):959–965
Ruigrok YM, Rinkel GJE (2008) Genetics of intracranial aneurysms. Stroke 39(3):1049–1055
Conflict of interest
The authors declare that they have no competing interests.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Kwong, Y., Cartmill, M., Jaspan, T. et al. Fetal MRI demonstrating vein of Galen malformations in two successive pregnancies—a previously unreported occurrence. Childs Nerv Syst 31, 1033–1035 (2015). https://doi.org/10.1007/s00381-015-2750-2
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00381-015-2750-2