European Journal of Ophthalmology / Vol. 19 no. 5, 2009 / pp. 894-896

SHORT COMMUNICATIONS & CASE REPORTS

Vein of Galen aneurysmal malformation masquerading
as carotid cavernous fistula in a child with proptosis
SARAH ZAFAR1, SAEMAH N. ZAFAR1, AYESHA KHAN1, SAERAH IFFAT ZAFAR2
Pediatric Ophthalmology Department, Al-Shifa Trust Eye Hospital, Rawalpindi - Pakistan
Neuroimaging Department, Royal Preston Hospital, Preston - UK

1
2

Purpose. An infant with proptosis and dilated episcleral vessels was diagnosed with vein of Galen
malformation, which is a rare condition presenting initially to an ophthalmologist.
Methods. An 8-month-old child presented with slowly progressive proptosis of the left eye of 5
months’ duration. The proptosis was axial, nonpulsatile, with no associated bruit. Dilated corkscrew
episcleral vessels were observed. The patient was referred to our center with diagnosis of carotid
cavernous fistula. The child had a history of episodes of seizures.
Results. Contrast-enhanced computed tomographic scan of the patient showed dilated vessels,
hydrocephalus, and dilated vein of Galen. Vein of Galen aneurysmal malformation was confirmed on
magnetic resonance venography.
Conclusions. Occasionally patients with Vein of Galen aneurysmal malformation may first present to
the ophthalmologist. Ophthalmologists should therefore be aware of this rare but potentially treatable condition. (Eur J Ophthalmol 2009; 19: 894-6)
Key Words. Arteriovenous malformation, Proptosis, Vein of Galen
Accepted: February 19, 2009

INTRODUCTION

Case report

The great cerebral vein, also called vein of Galen, is a short
and thick vein that passes posterosuperiorly behind the splenium of the corpus callosum. It receives the basal veins
and posterior fossa veins and drains to the straight sinus
where this unites with the inferior sagittal sinus. Some
cases of vein of Galen aneurysmal malformation (VGAM)
presenting in infancy are due to a congenital malformation
of persistent embryonic vein known as the median vein of
the prosencephalon resulting in a dilated central venous
structure (1). Patients with VGAM may rarely present to the
ophthalmologist with proptosis, in which case early recognition and referral can lead to timely treatment, survival,
decreased morbidity, and visual recovery (2).

An 8-month-old boy presented to the pediatric ophthalmology department with a 5-month history of slowly progressive proptosis of the left eye (OS). His birth history and
medical and family history was noncontributory. There was
no history of head injury or connective tissue disease. On
examination, his vision was central, steady, and maintained
in both eyes (OU). The average intraocular pressure with the
Tono-Pen was 14 mmHg OU. The proptosis was axial and
nonpulsatile. The extraocular movements were normal and
there was no bruit. There was slight conjunctival chemosis
and dilated corkscrew episcleral vessels were observed.
The anterior segment examination showed a clear cornea
and there were no signs of anterior segment ischemia.

1120-6721/894-03$25.00/0

EJO_894-896_Zafar.indd 894

© Wichtig Editore, 2009

27-08-2009 16:52:38

Zafar et al

Fig. 1 - Computed tomographic
scan.

systemic workup and assessment for appropriate interventional radiology as the proptosis was gradually increasing
and there were associated episodes of seizures.

DISCUSSION

Fig. 2 - Dilated vein of Galen.

On indirect ophthalmoscopy, there was no swelling of the
optic nerve head or any vascular abnormality. The patient
was referred to us with diagnosis of carotid cavernous fistula (CCF) as the features mimicked dural fistula, which
presents with gradual proptosis. Contrast-enhanced computed tomographic scan of the brain and orbits showed
vein of Galen aneurysmal malformation (VGAM) (Fig. 1).
Magnetic resonance venography confirmed the diagnosis
and showed left-sided middle cerebral artery branch as
the feeding artery that was dilated. The fistula was also
fed from the posterior cerebral artery on the left (Fig. 2).
Prominent facial vessels were also noted on follow-up examination at 14 months of age. The patient was referred for

Spontaneous CCF in a pediatric patient is rare. Two of the
previously reported 6 cases had a spontaneous closure (3).
Direct CCF represents 70–90% of all carotid-cavernous
sinus fistulae and is characterized by a direct connection
between the intracavernous part of the internal carotid artery and the cavernous sinus. These fistulae usually have
high rates of arterial blood flow. Our patient had early presentation of signs mimicking dural type of CCF, which is
characterized by a communication between the cavernous
sinus and one or more meningeal branches of the internal
carotid artery, external carotid artery, or both. These fistulae usually have low rates of arterial blood flow and produce gradual symptoms and signs without any antecedent
trauma or manipulation. In VGAM, there is a retrograde decrease in venous drainage up to the cavernous sinus and
this can cause the proptosis and chemosis. This is why
VGAM looks more like dural fistula than direct CCF.
VGAM are also rare anomalies constituting 1% of intracranial vascular malformations and represent 30% of the
vascular malformations in the pediatric age group (4). Occipital arteriovenous malformation, masquerading as CCF,
has been described in an adult patient (5). VGAM has been
described in association with proptosis and visual field
loss, without neurologic deficit in an older child (6).
Heart failure, irreversible brain damage, altered cerebrospinal fluid dynamics, and macrocephaly are the usual presenting signs of VGAM. Initially, VGAM is well tolerated neuro895

EJO_894-896_Zafar.indd 895

27-08-2009 16:52:38

Proptosis in an infant

logically and it is possible to delay interventional treatment,
which is technically difficult in neonates. Progressive macrocephaly, developmental delay, seizures, and neurologic
deficit are criteria for intervention in infancy. Our patient
had developed seizures that required referral for systemic
evaluation and interventional radiology. The treatment of
choice in VGAM is staged endovascular embolization; the
embolic materials used are pushable coils or liquid acrylic.
The immature circulation of the immature brain is unable
to cope with sudden reductions in blood volume and pressure if the shunt closure is done in one step; hence the rationale behind staged embolization of VGAM. Embolization
of arterial feeders was preferred over that of venous channels in one study, as the authors found that complications
like hemolysis and disseminated intravascular coagulation
were a strong possibility in the latter (7). Surgical management of VGAM has not been very successful and is associated with up to 90% neonatal mortality (7). Our patient had

prominent facial collaterals, which develop in infancy after the
neonatal period. In this circumstance, ophthalmic veins may
reroute the brain drainage toward the facial veins, which has
been described as a protective phenomenon for relief of high
cerebral venous pressure in patients with VGAM (2).
Ophthalmologists occasionally may be the first to diagnose
VGAM presenting with CCF-like features. Definite diagnosis
requires digital subtraction angiography to delineate exact venous drainage patterns. Counseling of the parents regarding
the treatment options and their outcome is important.
Proprietary interest: None.

Reprint requests to:
Saemah N. Zafar, MD
Paediatric Ophthalmology Department
Al-Shifa Trust Eye Hospital
Jhelum Road
Rawalpindi, 46000, Pakistan
saemahsaqib@yahoo.co.uk

REFERENCES
1.

2.

3.

4.

Raybaud CA, Strother CM, Hald JK. Aneurysms of the vein
of Galen: embryonic considerations and anatomical features
relating to the pathogenesis of the malformation. Neuroradiology 1989; 31: 109-28.
Lasjaunias PL. Vascular diseases in neonates, infants and
children. In: Interventional Neuroradiology Management.
Springer; 1997: 131-8.
Lau FH, Yuen HK, Rao SK, Lam DS. Spontaneous carotid
cavernous fistula in a pediatric patient: case report and review of literature. J AAPOS 2005; 9: 292-4.
Gupta AK, Varma DR. Vein of Galen malformations [Review].

5.

6.
7.

Neurol India 2004; 52: 43-53.
Gregory ME, Berry-Brincat A, Ghosh YK, Syed RN, Diaz PL,
Jordan TL. An arteriovenous malformation masquerading as
a carotid cavernous sinus fistula. Am J Ophthalmol 2005;
140: 548-50.
Ajaiyeoba AI. Aneurysm of the vein of Galen presenting with
proptosis. Afr J Med Med Sci 1993; 22: 93-5.
Jones BV, Ball WS, Tomsick TA, Millard J, Crone KR. Vein of
Galen aneurysmal malformations: Diagnosis and treatment
of 13 children with extended clinical follow-up. AJNR Am J
Neuroradiol 2002; 23: 1717-24.

896

EJO_894-896_Zafar.indd 896

27-08-2009 16:52:38