|Year : 2021 | Volume
| Issue : 1 | Page : 87-90
Vein of galen malformation presenting as severe persistent pulmonary hypertension in neonate
Sudhir D Malwade, Shiji S Chalipat, Sharad R Agarkhedkar, Mayank Surana
Department of Pediatrics, Dr D Y Patil Medical College, Hospital and Research Centre, Dr DY Patil Vidyapeeth, Pune, Maharashtra, India
|Date of Submission||09-Jul-2020|
|Date of Decision||07-Oct-2020|
|Date of Acceptance||10-Dec-2020|
|Date of Web Publication||22-Jan-2021|
Shiji S Chalipat
Department of Pediatrics, Dr D Y Patil Medical College, Pimpri, Pune - 411 027, Maharashtra
Source of Support: None, Conflict of Interest: None
Vein of Galen malformation (VOGM) is a rare type of arteriovenous malformation with majority presenting in neonatal period. The most common presentation is high output cardiac failure and association with persistent pulmonary hypertension (PPHN) is rarely reported. If left untreated mortality rate is very high. Endovascular embolization is the preferred treatment modality at present. We describe a full-term male baby presented at 1 h of life with respiratory distress, eventually diagnosed to have PPHN on echocardiography. Ultrasonography cranium done in view of cranial bruit revealed VOGM which later confirmed with magnetic resonance (MR) imaging brain and MR angio and venography. All supportive measures were provided. But because of hemodynamic instability endovascular embolization could not be attempted and baby succumbed due to severe refractory PPHN. We should consider the possibility of VOGM in all refractory cases of PPHN even though the association is very rare.
Keywords: Neonate, persistent pulmonary hypertension, vein of Galen malformation
|How to cite this article:|
Malwade SD, Chalipat SS, Agarkhedkar SR, Surana M. Vein of galen malformation presenting as severe persistent pulmonary hypertension in neonate. Med J DY Patil Vidyapeeth 2021;14:87-90
|How to cite this URL:|
Malwade SD, Chalipat SS, Agarkhedkar SR, Surana M. Vein of galen malformation presenting as severe persistent pulmonary hypertension in neonate. Med J DY Patil Vidyapeeth [serial online] 2021 [cited 2021 Mar 7];14:87-90. Available from: https://www.mjdrdypv.org/text.asp?2021/14/1/87/307683
| Introduction|| |
Vein of Galen malformation (VOGM), first reported by Steinheil in 1895 is a rare type of arteriovenous malformation (AVM) with majority presenting in the neonatal period. The incidence is one in 3 million population with a male preponderance (M:F-3:1). It constitutes <1% of cerebral AVMs.,
The etiology is unknown, may be a vascular insult resulting in somatic mutations at the time of early embryonic brain development might cause such vascular abnormalities. VOGM usually manifests in newborn as high output cardiac failure which can be associated with multiorgan dysfunction. Association with pulmonary hypertension is very rare and only 9 cases reported in literature till date. It can also cause mass effect leading to progressive neurological impairment, cerebral ischemic changes and obstructive hydrocephalus. If left untreated mortality rate is 42%–91%. Endovascular embolization is the preferred treatment modality at present.
| Case Report|| |
An hour old full-term small for gestational age male baby born to a primigravida with uneventful antenatal history was shifted to neonatal intensive care unit (NICU) in view of respiratory distress. The baby was born by normal vaginal delivery with birth weight of 1.9 kg, cried immediately after birth with no signs of perinatal depression. Examination showed tachycardia (heart rate-200/mt) and tachypnea (RR-70/mt) along with nasal flaring and SpO2 80%–85% on room air. There was no organomegaly. The baby was kept on O2 by hood, maintenance intravenous fluid was commenced and euglycemia was maintained. Eventually baby's blood pressure continued to drop and baby was put on escalating doses of ionotropic agents. Pre and post ductal saturation difference was >10%. X-ray chest showed cardiomegaly. Echocardiography was done which showed severe pulmonary hypertension with dilated right atrium and right ventricle, large patent ductus arteriosus (4 mm) with bidirectional shunt and moderate secundum atrial septal defect (6 mm). In view of progressive respiratory deterioration (audible grunt and falling saturations), the baby was intubated and kept on mechanical ventilator with fio2 60%, pressures of 12/5 and rate 30/min. Antibiotics and Intravenous sildenafil were started and appropriate laboratory investigations were organized.
Hemogram was normal (Hb: 15.5 gm%, total leucocyte count: 11,400/cm3, P: 30, L: 65, E: 02, M: 03, PLT: 1.9 LACS), negative septic screen (C-reactive protein-negative, blood culture– no growth), ABG: PH: 7.34, pO2: 41.2, Pco2: 37.9, Hco3: 20. Clinical examination showed wide open bulging anterior fontanel with cranial bruit, we did cranial ultrasonography which showed a cystic lesion 4 cm × 3.3 cm sized seen below the 3rd ventricle with vascularity (Yin Yang Sign), high flow arterial wave form from inferior sagittal sinus and straight sinus along with evidence of obstructive hydrocephalus suggestive of possibility of VOGM. Hence, we went ahead with magnetic resonance imaging brain with angio and venography which demonstrated large VOGM with prominent falcine and straight sinus with feeders from posterior cerebral arteries and pericallosal arteries [Figure 1] and [Figure 2].
|Figure 1: Magnetic resonance imaging brain: T2 Axial (a) and T2 coronal (b) showing Aneurysmal dilatation and large flow void noted in the midline measuring approximately 25(cc) ×27(ap) ×40(t) mm in region of posterior 3rd ventricle, inferior to splenium, and posteriosuperior to tectum, multiple dilated flow voids in quadrigeminal and ambient cisterns, suggestive of feeding vessels, occipital horns of both lateral ventricles were compressed and displaced laterally|
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|Figure 2: (a and b) Magnetic resonance venography showed large venous malformation of vein of Galen which was draining in to dilated straight sinus. Posterior superior sagittal sinus and straight sinus are extensively dilated. Prominentfalcine sinus and straight sinus noted, posterior ventricle portion of superior sagittal sinus appears prominent. MR angiography revealed the feeders of the malformation from posterior cerebral arteries and pericallosal arteries|
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Neurosurgeon and interventional neuro-radiologist consultation was taken and it was decided that once the baby is stable endovascular embolization should be attempted. Preexisting cerebral damage and significant hemodynamic instability were the main reason for withholding the emergency endovascular intervention. However, unfortunately, baby succumbed in spite of all supportive measures due to severe refractory persistent pulmonary hypertension (PPHN).
| Discussion|| |
Vein of Galen is a misnomer as the dilated vein in the location of vein of Galen is the median prosencephalic vein of Markowski. This vein usually regresses by 11th week of gestation and by 3rd month of gestation its posterior part joins the internal cerebral veins and basal veins to form the vein of Galen. The principal feeders of the malformation are anterior and posterior choroidal arteries along with anterior cerebral artery directly draining into enlarged venous pouch. Cerebral venous hypertension is the etio-pathogenetic factor that is responsible for most neurological manifestations of VOGMs. The high venous pressure transmitted to the medullary veins prevents resorption of fluid and thus results in hydrocephalus, cerebral edema, and hypoxia..The chronic hypoxia produced by the venous hypertension results in progressive cerebral parenchymal damage resulting in cognitive impairment, which can range from delayed milestones to mental retardation., VOGM has been classified by Lasjaunias as choroidal and mural type depending on location of fistulas. Choroidal type has multiple fistulas communicating with the anterior end of the median prosencephalic vein. In mural type the fistula is in the wall of the median prosencephalic vein. The outcome for choroidal type is worse than for those with mural type. Yasargil classified VOGMs into four categories-Type 1, 2 and 3 lesions in Yasargil's classification involve a direct fistulous communication with the vein of Galen. There is no other proximal nidus. Type 4 lesions represent parenchymal AVMs, which drain into the vein of Galen.
PPHN is defined as a syndrome resulting from maladaptation to extra uterine life characterized by marked pulmonary hypertension causing hypoxemia secondary to right to left shunting of blood at foramen ovale and ductusarteriosus. The basic vascular pathology behind the pulmonary hypertension is still unclear. Dahdah et al. had suggested the possible mechanism of PPHN as a chronic and excessive fetal pulmonary blood flow secondary to massive increase of right ventricular output, which resulted in functional ductal stenosis. The current literature does not demonstrate the gestational age at which a fetus with VOGM is at greatest risk of severe PPHN.
The most common presentation during neonatal period is congestive cardiac failure and less commonly hydrocephalus. There is always a delay in diagnosis because clinical picture might mimic cyanotic congenital heart disease. In a neonate with congestive heart failure and a structurally normal heart, the diagnosis of an intracranial AVM should be considered as a possibility.
There are many case reports and case series on VOGM and cardiac failure, but the association of VOGM with PPHN is rarely described. Characteristics of these cases are summarized in [Table 1]. Earliest case report with an association between PPHN of the newborn and intracranial AVMs have been reported by Holden et al. and Cumming.
|Table 1: Summary of case reports describing vein of Galen malformation with persistent pulmonary hypertension|
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In our case, VOGM was diagnosed postnatally and was challenging to treat similar to other reports in literature.,,, The cases reported by Dahdah et al. and Gailloud et al. were diagnosed antenatally and management was planned accordingly after the delivery in the immediate postnatal period which served a better outcome. There is a male preponderance for VOGM in literature similar to our case. Neuroimaging showed the evidence of hypoxic injury which might be sequelae of high cerebral venous pressure. Similar findings were demonstrated by Dahdah et al. also.
The main treatment modality for VOGM is the endovascular embolization along with supportive care in NICU, which would resolve the PPHN too, but the outcome is variable.,,, The treatment of hydrocephalus is controversial and reserved for refractory hydrocephalus after endovascular embolization. Resolution of PPHN after endovascular embolization may be a major predictor of survival in these babies. Selzer et al., Farhat et al. and Tsai et al. had reported cases who were managed conservatively and the babies expired in neonatal period similar to our case. The cases reported by Hendson et al., Tiwary et al. and Gailloud et al. were treated successfully with endovascular embolization with postintervention regression of vascular lesion on neuroimaging. There are case reports in which babies expired even after multiple stage endovascular embolization and management of PPHN.,
| Conclusion|| |
A case of VOGM in which refractory PPHN has been described. The association of PPHN with VOGM is rare and can be challenging to diagnose and treat. In all refractory cases of PPHN, we should consider the possibility of VOGM and should do neuroimaging. The main treatment modality for VOGM is the endovascular embolization along with supportive care in neonatal intensive care.
Authors would like to thank parents of the patient, NICU staff, Department of Radiology and Dr D Y Patil Medical College, Pimpri, Pune
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Puvabanditsin S, Mehta R, Palomares K, Gengel N, Da Silva CF, Roychowdhury S, et al
. Vein of galen malformation in a neonate: A case report and review of endovascular management. World J Clin Pediatr 2017;6:103-9.
Bhattacharya JJ, Thammaroj J. Vein of galen malformations. J Neurol Neurosurg Psychiatry 2003;74 (Suppl 1):i42-4.
Johnston IH, Whittle IR, Besser M, Morgan MK. Vein of Galen malformation: Diagnosis and management. Neurosurgery 1987;20:747-58.
Yan J, Wen J, Gopaul R, Zhang CY, Xiao SW. Outcome and complications of endovascular embolization for vein of Galen malformations: A systematic review and meta-analysis. J Neurosurg 2015;123:872-90.
Berenstein A, Lasjaunias P. Arteriovenous fistulas of the brain. In: Surgical Neuroangiography Endovascular treatment of cerebral lesions. Berlin: Springer-Verlag; 1992. p. 267-317.
Lasjaunias P, Garcia-Monaco R, Rodesch G, Ter Brugge K, Zerah M, Tardieu M, et al
. Vein of Galen malformation. Endovascular management of 43 cases. Childs Nerv Syst 1991;7:360-7.
Fullerton HJ, Aminoff AR, Ferriero DM, Gupta N, Dowd CF. Neurodevelopmental outcome after endovascular treatment of vein of galen malformations. Neurology 2003;61:1386-90.
Yasargil MG. Microneurosurgery IIIB. New York: Thieme Medical Publishers; 1988. p. 323-57.
Dahdah, N, Alesseh H, Dahms B. Severe Pulmonary Hypertensive Vascular Disease in Two Newborns with Aneurysmal Vein of Galen. Pediatr Cardiol 2001;22:538–41.
Holden AM, Fyler DC, Shillito J, Nadas AS. Congestive heart failure from intracranial arteriovenous fistula in infancy. Pediatrics 1972;49:30-9.
Cumming GR. Circulation in neonates with intracranial arteriovenous fistula and cardiac failure. Am J Cardiol 1980;45:1019-24.
Selzer G, Rettwitz-Volk W, Schloesser R, Allendorf A, Huebner P, Schneider M, et al
. Persistent pulmonary hypertension in the newborn infant caused by aneurysm of the vein of Galen. Klin Padiatr 1993;205:190-3.
Hendson L, Emery DJ, Phillipos EZ, Bhargava R, Olley PM, Lemke RP. Persistent pulmonary hypertension of the newborn presenting as the primary manifestation of intracranial arteriovenous malformation of the vein of Galen. Am J Perinatol 2000;17:405.
Su WJ, Hsieh WS, Chou HC, Peng SS, Yao YT, Won SP, Tsao PN. Persistent pulmonary hypertension in a neonate with vein of Galen arteriovenous malformation. J Formos Med Assoc. 2005;104:670-3.
Tiwary S, Geethanath RM, Abu-Harb M. “Vein of Galen malformation presenting as persistent pulmonary hypertension of newborn (PPHN).” BMJ case reports vol. 2013 bcr2013200425.2013.
Gailloud DP, O'Riordan I, Burger, Lehmann CU. Confirmation of communication between deep venous drainage and the vein of Galen after treatment of a vein of Galen aneurysmal malformation in an infant presenting with severe pulmonary hypertension. AJNR Am J Neuroradiol 2006;27:317-20.
Farhat AS, Kaseb AA, Khorakian F, Mohammadzadeh A, Saeidi R.Vein of Galen Aneurysmal Malformation in a Neonate: A Case Report. Iranian Journal of Neonatology 2016;7:44-8.
Tsai JD, Kuo HT, Chou IC, Chang JS, Su BH, Vein of Galen aneurysm complicated with pulmonary hypertension: report of one newborn case. Acta Paediatr Taiwan 2006;47:34-7.
[Figure 1], [Figure 2]