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Case report

Vein of Galen Aneurysmal Malformation: Prognostic Markers Depicted on Fetal MRI

The Neuroradiology Journal 2015, Vol. 28(1) 72–75 ! The Author(s) 2015 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav DOI: 10.15274/NRJ-2014-10106 neu.sagepub.com

Matthias W Wagner1, Arthur J Vaught2, Andrea Poretti1, Karin J Blakemore2 and Thierry A G M Huisman1

Abstract Fetal magnetic resonance imaging (MRI) serves a dual role in the prenatal diagnostic work up of a vein of Galen aneurysmal malformation (VGAM). First, it may confirm the prenatal ultrasound findings and secondly it may identify prognostically important secondary complications of the VGAM. Progressive heart failure with development of fetal hydrops and hemispheric white matter injuries are associated with a poor outcome in children with a VGAM. We present the prenatal findings using both ultrasound and MRI of a fetus with VGAM including bilateral injury of the cerebral hemispheres, severe dilatation of the jugular veins, cardiomegaly, and hydrops fetalis. The neonate died within 30 minutes after delivery. Moreover, fetal MRI revealed complete placenta praevia, uterine fibroids, and wrapping of the umbilical cord around the fetal neck. This additional information is unrelated to the fetal pathology, but could have been of importance to plan the delivery.

Keywords vein of Galen malformation, vascular malformation, fetal magnetic resonance imaging, cardiac failure, melting brain

Introduction Abnormalities of the vein of Galen account for 1% of all arteriovenous malformations and around 30% of all vascular malformations in the pediatric population.1 Two different subtypes of vascular malformations may involve the vein of Galen: the vein of Galen aneurysmal malformation (VGAM) and vein of Galen aneurysmal dilatation (VGAD). The VGAM refers to the persistent embryonic median prosencephalic vein of Markowski and can be categorized in choroidal or mural subtypes. Choroidal VGAMs are characterized by multiple bilateral arteriovenous fistulas which are located in the velum interpositum cistern draining into a dilated vein of Markowski. In contrast, VGAMs of the mural type are characterized by a single arteriovenous fistula which is located at the inferolateral aspect of the aneurysmal dilatation.2 In VGADs, the vein of Galen is fully developed.3 The VGAD corresponds to an arteriovenous malformation primarily centered in the subpial space. Shunts are located in the cerebellum, brainstem, or in the deep supratentorial territories which subsequently drain into the dilated vein of Galen. The correct differentiation is important, because VGAD may be clinically symptomatic in late childhood, with intracranial hemorrhage and focal neurological deficits.4 In our case, the diagnosis of a VGAM was made. We report on a prenatal combined ultrasound and fetal MRI study in a male fetus with VGAM.

We emphasize 1) the ability of fetal MRI to confirm sonographic findings and 2) the role of fetal MRI to depict prognostic markers in fetal VGAM.

Case Report A 29-year-old woman (G1P0) was referred to our tertiary maternal-fetal medicine center at 28 weeks of gestation because of vaginal spotting, placenta praevia, and a prenatal ultrasound (US) diagnosis of a fetal VGAM at 25 weeks gestation. The mother had no systemic symptoms, in particular no signs of dizziness, shortness of breath, chest pain, or contractions. She felt vigorous fetal movements. Her physical examination showed an intact, competent cervix and scant dark old blood in the vagina with no active bleeding.

1

Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science 2 Maternal Fetal Medicine, McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA Corresponding authors: Thierry A.G.M. Huisman, MD, EQNR, FICIS, Professor of Radiology, Pediatrics, Neurology and Neurosurgery, Director of Pediatric Radiology and Pediatric Neuroradiology. Russell H. Morgan, Department of Radiology and Radiological Science, Charlotte R. Bloomberg Children’s Center, Sheikh Zayed Tower, Room 4174, 1800 Orleans Street, Baltimore, MD 21287-0842, USA. Email: [email protected]

Wagner et al.

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Figure 1. a) Gray scale sonographic images in a transverse plane of the fetal head at 31 weeks of gestation show a large VGAM with high flow on color-coded Doppler sonography (arrows). b) Evaluation of the hemispheric gray and white matter is limited. A transverse view of the chest shows severe cardiomegaly (arrows). c) A coronal view of the neck and head shows significant dilation of the superior vena cava and jugular veins (arrows). d) A coronal view of the abdomen and lower chest reveals ascites around the liver (arrows).

A transabdominal US showed a placenta praevia, mild cerebral ventriculomegaly, and a dilated and elongated vein of Galen with multiple dilated likely feeding adjacent vessels. Flow profiles revealed high velocity consistent with a VGAM (Figure 1a). In addition, US showed cardiomegaly (Figure 1b), dilated jugular veins (Figure 1c), and ascites around the liver (Figure 1d). A fetal MRI was performed the next day to evaluate the VGAM in better detail and to study possible focal or systemic/hemodynamic complications of the VGAM. The fetal MRI showed a markedly enlarged vein of Galen confirming the VGAM (Figure 2a), severe dilatation of the dural venous sinuses and intracranial veins, moderate cerebral ventriculomegaly, and extensive, bilateral (right>left), periventricular white matter injury (Figure 2b) which appeared partially hemorrhagic. In addition, the fetal MRI confirmed severe global cardiomegaly (Figure 2c), marked dilatation of the jugular veins (Figure 2c), fetal hydrops including ascites and subcutaneous edema (Figure 2d), as well as moderate polyhydramnios. Finally, several important additional findings unrelated to the VGAM were noted: a three vessel umbilical cord was wrapped at least two times around the fetal neck (Figure 2c), placenta praevia (Figure 2d), and three large, partially degenerated uterine fibroids (Figure 2b).

After extensive counseling with the patient through a multidisciplinary team, delivery was elected at 31 weeks and four days. Termination of pregnancy was decided by cesarean section because of the grave fetal prognosis compelled with the increased risk for maternal morbidity secondary to placenta praevia. A male neonate weighing 1500 grams was delivered in the vertex presentation. The Apgar scores were 2 and 2 at one and five minutes, respectively. Resuscitation was declined by the mother and the neonate was provided with comfort care. The neonate died about 30 minutes after delivery.

Discussion Fetal MRI is a safe, important and well-established diagnostic tool in the clinical evaluation of fetuses with suspected cerebral anomalies.5 Although to date morphological and functional information has been acquired mainly by ultrasound (US), fetal MRI plays the key role in the exact evaluation of the complex fetal brain anatomy.6 Due to its physical properties, ultrasound is limited to the visualization of only certain fetal neurological diseases. Limitations such as reverberation artifacts and poor penetration through the ossified fetal skull result in a reduced visualization of the brain. Cortical lesions and subtle parenchymal abnormalities can consequently be missed.5 Additional limitations of

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The Neuroradiology Journal 28(1)

Figure 2. Multiplanar T2-weighted images at 31 weeks of gestation show a large VGAM (thick arrows in a), extensive, partially hemorrhagic, bilateral periventricular white matter injury (more prominent of the right, arrows in b), moderate ventriculomegaly, significant dilatation of the intracranial veins and jugular veins (arrowheads in c), severe global cardiomegaly (thick arrows in c), hydrops fetalis with ascites (arrowheads in d) and marked subcutaneous edema along the posterior skull (thin arrow in a) and the anterior chest (thin arrow in d), and moderate polyhydramnios. Additionally, a three-vessel umbilical cord was wrapped two times around the fetal neck (thin arrows in c) and a uterine fibroid (arrowheads in b) as well as a placenta praevia (thick arrows in d) are noted.

ultrasound are maternal bowel gas, maternal obesity, oligohydramnios, and progressed descensus of the fetal head in the maternal pelvis.6 Hence, the diagnostic capabilities of fetal MRI lie beyond ultrasound. Fetal MRI served two roles in our patient. First, fetal MRI confirmed the prenatal US diagnosis of a VGAM. Second, the fetal MRI identified potential prognostically important complications secondary to the hemodynamic alterations of the VGAM such as cardiac failure, fetal hydrops, and brain injury. Heart failure results from increased cardiac preload secondary to arteriovenous shunts and may lead to cardiomegaly and hydrops fetalis. Injury to the cerebral gray and white matter is called ‘‘melting brain’’ and is caused by chronic hypoxia and venous stasis due to venous hypertension.3 In some patients injury may be partially hemorrhagic and is consequently best seen on T1-weighted images. Hydrocephalus is another neurological complication and is due to direct compression of the Sylvian aqueduct and/or impaired resorption of cerebrospinal fluid at the Pacchionian granulations due to the venous hypertension. The presence of fetal cardiac failure and injury of the cerebral parenchyma are associated with a poor postnatal fetal outcome and serve as a prognostic marker. Additionally, severe

systemic involvement with subsequent multiple organ failure may be a contraindication to endovascular embolization.7 In our patient, the severity of prenatal cardiac failure (marked cardiomegaly and hydrops fetalis) and brain injury (severe bilateral involvement of the periventricular white matter) predicted a poor postnatal outcome. The detailed information on the severe cardiomegaly and the brain injury led to the decision for an early cesarean section to avoid potential maternal complications and to provide comfort care to the newborn. The full extent of these important findings was easily appreciated on fetal MRI, while US failed to show the severity of brain injury. Our case emphasizes the role of fetal MRI to confirm the diagnosis of VGAM and identify the full spectrum of intracranial and systemic complications that predict the postnatal outcome. Finally, fetal MRI may play an important role by identifying additional findings that are unrelated to the primary pathology, but that may be important to plan the type of delivery (placenta praevia, wrapped umbilical cord around the neck) and future pregnancies (multiple uterine fibroids). Our case emphasizes that an obvious finding may be more complex than originally perceived. A detailed evaluation of the

Wagner et al. entire imaging data set may provide additional information that is essential for the pre-, peri-, and postnatal care as well as the counseling of families for current and future pregnancies. Funding This research received no specific grant from any funding agency in the public, commercial or not-for-profit sectors.

Conflict of interest The authors declare no conflict of interest.

References 1. Hassan T, Nassar M and Elghandour M. Vein of Galen aneurysms: presentation and endovascular management. Pediatr Neurosurg 2010; 46(6): 427–434. doi: 10.1159/ 000324911. 2. Komiyama M, Nakajima H, Nishikawa M, et al. Vein of galen aneurysms. Experience with eleven cases. Interv Neuroradiol 2001; 7(Suppl 1): 99–103.

75 3. Alvarez H, Garcia Monaco R, Rodesch G, et al. Vein of galen aneurysmal malformations. Neuroimaging Clin N Am 2007; 17(2): 189–206. doi: 10.1016/j.nic.2007.02.005. 4. Mortazavi MM, Griessenauer CJ, Foreman P, et al. Vein of Galen aneurysmal malformations: critical analysis of the literature with proposal of a new classification system. J Neurosurg Pediatr. 2013; 12(3): 293–306. doi: 10.3171/2013.5.PEDS12587. 5. Huisman TA, Wisser J, Martin E, et al. Fetal magnetic resonance imaging of the central nervous system: a pictorial essay. Eur Radiol 2002; 12(8): 1952–1961. doi: 10.1007/ s00330–001–1281–2. 6. Mailath-Pokorny M, Kasprian G, Mitter C, et al. Magnetic resonance methods in fetal neurology. Semin Fetal Neonatal Med 2012; 17(5): 278–284. doi: 10.1016/ j.siny.2012.06.002. 7. Frawley GP, Dargaville PA, Mitchell PJ, et al. Clinical course and medical management of neonates with severe cardiac failure related to vein of Galen malformation. Arch Dis Child Fetal Neonatal Ed 2002; 87(2): F144–149. doi: 10.1136/fn.87.2.F144.

Vein of galen aneurysmal malformation: prognostic markers depicted on fetal MRI.

Fetal magnetic resonance imaging (MRI) serves a dual role in the prenatal diagnostic work up of a vein of Galen aneurysmal malformation (VGAM). First,...
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