Patients with potentially life-threatening intracranial vascular abnormalities may first come to an ophthalmologist with signs or symptoms that include visual disturbances, bruits, papilledema, or periorbital congestion commonly coexisting with other neurologic and cardiovascular problems. In this report, we discuss a girl seen first at 6 months of age with the rare finding of isolated, unilateral eyelid ptosis and fullness due to a dural arteriovenous fistula.
A female child was noted at birth to have right upper eyelid swelling and ptosis. Although they were believed to be related to birth trauma, there was little change in her eyelid appearance over the next few months, prompting referral to a pediatric ophthalmologist (B.J.K.) when the girl was 6 months old. Fullness of the right upper eyelid was evident (Figure 1), but no palpable mass or orbital bruit was appreciated. The remainder of her ophthalmic examination, including eyelid function, motility, and sweep visual evoked potential testing, had normal findings for both eyes. The child had otherwise enjoyed good health and achieved appropriate developmental milestones.
Photograph on patient's initial visit. Note the right upper eyelid ptosis and fullness.
Magnetic resonance imaging revealed a dural arteriovenous fistula with massive engorgement and dilation of the dural venous sinuses, including the distal superior sagittal sinus, torcular herophili, and right transverse sinus (Figure 2A). Cerebral angiography identified multiple arterial feeding vessels, the most prominent of which were derived from the occipital arteries bilaterally (Figure 2B). Also noted were bilateral dilated superior ophthalmic veins due to shunting of cerebral venous blood to the external periorbital veins. There was no evidence of intracranial mass effect, infarct, hemorrhage, or other parenchymal abnormalities.
Preprocedural and postprocedural neuroimaging studies. A, T1-weighted, fat-suppressed, contrast-enhanced axial magnetic resonance image demonstrating abnormal enhancement and enlargement of the distal superior sagittal sinus (arrow) and the torcular herophili (arrowhead). B, Preprocedural mixed internal and external arterial-phase cerebral angiogram showing multiple feeder vessels, including branches of the middle meningeal artery (arrowheads) and transosseous feeding vessels originating from the occipital artery (arrow). The superior ophthalmic vein is not visible during this phase of the angiogram. C, Postprocedural venous phase cerebral angiogram with multiple embolization coils deposited in the distal superior sagittal sinus and torcular herophili (arrow). Note the persistent dilated superior ophthalmic vein (arrowhead).
With the poor natural history of dural arteriovenous fistula in children, we decided to attempt endovascular embolization of the lesion to prevent long-standing cerebral venous hypertension and potentially irreversible brain injury. A preoperative cardiovascular evaluation, including echocardiogram, revealed only a slightly enlarged left atrium due to mildly increased cardiac output.
At 7 months of age, the patient underwent initial endovascular treatment using a combined transvenous and transarterial approach with selective embolization of feeding branches from the right occipital and middle meningeal arteries, branches of the vertebral arteries, the superior sagittal sinus, and the torcular herophili (Figure 2C). Postoperatively, the child did well, and her parents noted an increase in alertness and playful activity and increased interaction with her siblings. Her right upper eyelid ptosis and fullness were unchanged, however, and an occipital bruit (first noted during a follow-up visit) remained. When the patient was 19 months of age, we performed a second embolization procedure because of persistence of part of the malformation and complaints of intermittent headaches. At age 4 years, the child's neurodevelopment continued to be normal, although her visual acuity as measured by the HOTV method was 20/70 OD and 20/60 OS despite an otherwise normal ocular examination. The cause of her decreased visual acuity was not clear, although a component of cortical damage from chronic cerebral venous hypertension was suspected. She continues to be monitored closely by her multidisciplinary medical team.
Dural arteriovenous fistula in the pediatric population is rare, often multifocal, and generally more complex than adult dural arteriovenous fistula.1,2 In adults, an insult from trauma, intracranial surgery, thrombophlebitis, or dural venous thrombosis is believed to initiate an inflammatory cascade with ensuing neovascularization and angiogenesis, resulting in shunts at the arteriolar level.3 The exact causative triggers in children are unknown, although both embryologic and intrauterine-acquired etiologies have been proposed.1,2 Signs and symptoms in infants typically include cardiac failure, hydrocephalus, hemorrhage, and seizures, although some children may only have bruits, proptosis, or papilledema.1,2 The increased risk of heart failure necessitates a comprehensive pediatric cardiology evaluation. In our patient, normal internal jugular venous drainage was compromised by shunted arterial flow, leading to asymmetric anomalous drainage of venous blood through the cavernous and periorbital venous system, resulting in unilateral upper eyelid swelling and mechanical ptosis.
The major goal of therapy is to disconnect the fistula from its arterial supply and ensure that alternative venous outlets remain patent and functional.2 Infants with multifocal lesions tend to have more serious neurological sequelae than adults, including neurocognitive delay, hemorrhage, or death, although the advent of newer endovascular treatments has improved overall outcomes.1,3 In complex lesions with numerous arterial feeding arteries, multiple therapeutic embolizations may be required to definitively cure these life-threatening fistulae. Our case illustrates that children with potentially life-threatening intracranial vascular abnormalities may first visit the ophthalmologist with seemingly benign symptoms, making prompt diagnosis and treatment essential.
Correspondence: Dr Gamm, T607 Waisman Center, 1500 Highland Ave, Madison, WI 53705 (firstname.lastname@example.org).
Financial Disclosure: None reported.
Thank you for submitting a comment on this article. It will be reviewed by JAMA Ophthalmology editors. You will be notified when your comment has been published. Comments should not exceed 500 words of text and 10 references.
Do not submit personal medical questions or information that could identify a specific patient, questions about a particular case, or general inquiries to an author. Only content that has not been published, posted, or submitted elsewhere should be submitted. By submitting this Comment, you and any coauthors transfer copyright to the journal if your Comment is posted.
* = Required Field
Disclosure of Any Conflicts of Interest*
Indicate all relevant conflicts of interest of each author below, including all relevant financial interests, activities, and relationships within the past 3 years including, but not limited to, employment, affiliation, grants or funding, consultancies, honoraria or payment, speakers’ bureaus, stock ownership or options, expert testimony, royalties, donation of medical equipment, or patents planned, pending, or issued. If all authors have none, check "No potential conflicts or relevant financial interests" in the box below. Please also indicate any funding received in support of this work. The information will be posted with your response.
Some tools below are only available to our subscribers or users with an online account.
Download citation file:
Web of Science® Times Cited: 1
Customize your page view by dragging & repositioning the boxes below.
The Rational Clinical Examination: Evidence-Based Clinical Diagnosis
Population for Whom Myasthenia Gravis Could Be Considered
The Rational Clinical Examination: Evidence-Based Clinical Diagnosis
All results at
Enter your username and email address. We'll send you a link to reset your password.
Enter your username and email address. We'll send instructions on how to reset your password to the email address we have on record.
Athens and Shibboleth are access management services that provide single sign-on to protected resources. They replace the multiple user names and passwords necessary to access subscription-based content with a single user name and password that can be entered once per session. It operates independently of a user's location or IP address. If your institution uses Athens or Shibboleth authentication, please contact your site administrator to receive your user name and password.