Illustrative Teaching Case
Section Editors: Daniel Strbian, MD, PhD, and Sophia Sundararajan, MD, PhD

Patient With Severe Moyamoya Disease Who Presents
With Acute Cortical Blindness
Aparna Sajja, BA, BS; Deki Tsering, MHS; Annie C. Mooser, MD; Tiffani A. DeFreitas, MS;
Jessica Carpenter, MD; Suresh N. Magge, MD
Case Description

examination. Her ocular alignment was normal and without
nystagmus. Slit-lamp examination was unremarkable, and
fundal examination revealed healthy optic nerves bilaterally
and normal macular response. The patient was diagnosed with
cortical vision loss secondary to occipital stroke.
After allowing time for her condition to stabilize, the
patient underwent staged bilateral craniotomies for pial synangiosis surgery for indirect revascularization, with the goal
of protecting healthy cerebral hemispheres that were at risk
for infarction. Her baseline cortical vision loss persisted postoperatively, but no further neurological issues developed.
A 1-year follow-up angiogram confirmed extensive revascularization of the bilateral middle cerebral artery regions, with
additional bilateral supply to the anterior cerebral artery territories
from the synangioses and collaterals of the ophthalmic arteries.

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A previously healthy 16-year-old girl presented to a local
emergency room with intense headache, severe nausea, and
vision loss. The week before, she had intermittent headaches
and nonspecific visual changes that resolved with acetaminophen or NSAIDs and rest. On admission to the hospital, she
was found to be extremely hypertensive and had bilateral
occipital hypodensities consistent with infarcts on noncontrast
computed tomography.
On transfer to the regional pediatric hospital, she had
severe vision loss (light perception only), and magnetic resonance imaging showed bilateral infarctions, especially affecting the posterior circulation and occipital lobes (Figure 1).
Magnetic resonance perfusion revealed severe bilateral hemispheric hypoperfusion, and magnetic resonance imaging
fluid-attenuated inversion-recovery sequence demonstrated
linear hyperdensities along sulci—the ivy sign often seen in
moyamoya. Cerebral angiography revealed complete occlusion of the bilateral internal carotid arteries distal to the anterior choroidal arteries with dense moyamoya collaterals and
extreme attenuation of the posterior cerebral artery circulation, also with moyamoya collaterals (Figure 2). Biochemical,
hemostatic, and genetic evaluations were normal, with the
exception of a significantly elevated D-dimer level (1850 ng/
mL; normal range: 0–543 ng/µL). Apart from her mother
experiencing a deep venous thrombosis during pregnancy, the
patient’s family history was unremarkable for coagulopathies.
The patient was admitted to the pediatric intensive care
unit, where she was started on aspirin. Deterioration in her
neurological examination coincided with a relative decrease
in blood pressure. Her neurological examination improved
with pressors, which were eventually weaned. The patient
remained on daily aspirin and had no subsequent strokes, but
her cortical blindness persisted. The patient was discharged
home with follow-up for surgical planning.
Several weeks after the patient’s initial stroke, her neuroophthalmologic testing remained notable for light-only perception in both eyes. Both pupils were 4 mm and reactive on

Discussion
We report a patient with moyamoya disease (MMD) who
experienced occipital infarctions resulting in cortical blindness. MMD is a rare progressive occlusive cerebrovascular
condition characterized by compensatory collateral circulation resembling a puff of smoke (moyamoya in Japanese)
on cerebral angiography. It presents in both pediatric and
adult populations, often causing stroke or hemorrhage.
To date, its pathogenesis has not been fully characterized.
MMD is thought to exhibit some degree of familial inheritance, with an estimated 15% of Japanese MMD patients
having an affected family member. In those cases, mutation
of RNF213 encodes a defective E3 ubiquitin ligase involved
in angiogenesis. Environmental triggers may factor significantly into the expression of this mutation, as genetically
identical twins may be affected differently.1 Whereas moyamoya disease is idiopathic, moyamoya syndrome refers to
moyamoya vasculopathy associated with other conditions,
such as neurofibromatosis type 1, sickle cell disease, radiation, and Down syndrome. Its treatment is analogous to that
of MMD.

Received October 3, 2016; final revision received March 9, 2017; accepted March 14, 2017.
From the Department of Neurology (J.C.), Department of Neurological Surgery (S.N.M.), and Department of Pediatrics (J.C., S.N.M.), George Washington
University School of Medicine and Health Sciences, Washington, DC (A.S.); Division of Neurosurgery (D.T., S.N.M.), Division of Anesthesiology (T.A.D.),
and Department of Neurology (J.C.), Children’s National Health System, Washington, DC; and Department of Surgery, St. Louis University, MO (A.C.M.).
Aparna Sajja is a medical student and not affiliated with any particular department or unit
Correspondence to Suresh N. Magge, MD, Department of Neurosurgery, Children’s National Health System, 111 Michigan Ave NW, Washington, DC
20010. E-mail smagge@childrensnational.org
(Stroke. 2017;48:e126-e129. DOI: 10.1161/STROKEAHA.116.015548.)
© 2017 American Heart Association, Inc.
Stroke is available at http://stroke.ahajournals.org

DOI: 10.1161/STROKEAHA.116.015548

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Sajja et al   Pediatric Moyamoya Disease and Cortical Blindness   e127
reported cases of complete cortical blindness, but they were
all in adults and often had precipitating symptoms before the
onset of full blindness.6
The present case is a rare presentation of isolated MMD
presenting with acute cortical blindness in a pediatric patient.
Although the majority of MMD patients present with symptoms related to anterior circulation ischemia, this patient presented with acute posterior circulation infarction without any
significant initial anterior circulation deficits. This case demonstrates the importance of the practitioner’s ability to recognize the atypical signs and symptoms of this disease. Although
rare, MMD should be considered in the differential diagnosis
of acute cortical vision loss.

Diagnosing Moyamoya

Figure 1. Axial T2 magnetic resonance imaging with bilateral
fluid-attenuated inversion-recovery changes revealing infarctions
of the right posterior temporal and occipital lobes and of the left
parietal, occipital, and posterior temporal lobes. In addition, there
were small chronic white matter infarcts in the bifrontal middle
cerebral artery–anterior cerebral artery watershed territories (not
pictured).

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Clinical Manifestations
The clinical manifestations of MMD are consistent with those
of cerebral ischemia or intracranial hemorrhage. Therefore,
signs of MMD vary with the nature (ischemic versus hemorrhagic) and location of the stroke. Among pediatric patients
with MMD, transient ischemic attacks and ischemic strokes
are more common, whereas hemorrhage occurs more commonly in adults. The pathology generally affects the anterior
circulation of the brain with stenosis of the internal carotid
artery near its apex, proximal anterior cerebral arteries, and
proximal middle cerebral arteries.1 Although less common,
the posterior circulation may also be affected.
Patients with MMD who initially present with anterior
circulation involvement may additionally proceed to exhibit
posterior circulation involvement as well.2 Anterior circulation ischemia can present with headaches, motor weakness,
and aphasia, whereas posterior circulation ischemia may present with headaches and visual symptoms.2,3 Hishikawa et al4
examined the difference in posterior circulation involvement
between adults and pediatric patients with MMD. They found
that pediatric MMD patients with posterior circulation involvement (26%) had less advanced internal carotid artery lesions
than adult patients with posterior circulation involvement. The
group reported a significantly higher rate of infarction in pediatric and adult patients with posterior circulation involvement
than those without posterior circulation involvement.
Although there have been previously reported cases of
pediatric moyamoya patients presenting with ocular manifestations, the cases were often attributable to direct ocular
disease and retinal artery occlusion.5 Sudden cortical blindness from an occipital stroke is rare. There have been other

Diagnosis of MMD requires evidence of narrowing of the
distal internal carotid arteries, which extends to the proximal
middle cerebral arteries and anterior cerebral arteries, along
with collateral circulation formation at the base of the brain
(Figure 1).1 Cerebral angiography, the gold standard of MMD
diagnosis, should confirm these findings.7

Treatment Options
Class I recommendations for MMD treatment emphasize
revascularization surgeries, which can be effective in preventing progressive MMD symptoms and are generally categorized
as direct or indirect procedures.8 Direct approaches to surgical revascularization involve anastomosis of the superficial
temporal artery to a cortical artery. Indirect revascularization
procedures vary in nature but generally call for placement of
the dura, temporalis muscle, or superficial temporal artery onto
the surface of the brain to stimulate subsequent blood vessel
growth. Revascularization surgery offers promising results,
conferring up to a 96% probability of remaining stroke free
for 5 years postoperatively.1 Indirect approaches are performed
more often in children because their small vasculature renders
direct anastomosis challenging.1 Although no definitive consensus in the literature has been reached comparing the effectiveness of either surgical approach, a recent meta-analysis by
Macyszyn et al9 concluded that indirect revascularization surgeries are associated with superior long-term results compared
with direct procedures in both children and adults.
This patient underwent pial synangiosis surgery, which is
a type of indirect revascularization surgery and a variant of
encephaloduroarteriosynangiosis. In pial synangiosis surgery,
the superficial temporal artery, which is normally extracranial,
is isolated while being kept in continuity. A craniotomy is performed, the dura and arachnoid are opened, and the superficial
temporal artery is secured to the pia overlying the surface of
the brain. After a few months, new blood vessels grow into
the brain to provide better vascular supply. A study by Scott et
al10 found that ≈75% of children with MMD went on to lead
independent and normal lives at long-term follow-up after
undergoing this revascularization procedure.
Medical therapies alone are not recommended, although
class II recommendations suggest the administration of antiplatelet agents like aspirin, as tolerated, for additional stroke
prophylaxis. Class III evidence, meanwhile, discourages

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Figure 2. Angiographic images (lateral views) showing effects of surgical treatment with pial synangiosis. A and B, Right external carotid
artery injections, preoperatively (A) and at 1-y follow-up (B). There is extensive revascularization in the right middle cerebral artery territory
and superior part of the right anterior cerebral artery territory (boxed area). The superficial temporal artery and middle meningeal artery are
hypertrophied on the follow-up angiogram, indicating increased blood flow. C and D, Right internal carotid artery (ICA) injections, preoperatively (C) and at 1-y follow-up (D), which show occlusion of the ICA distal to the anterior choroidal artery and progressive moyamoya
collaterals during that time.

administration of anticoagulants because these could elevate
the risk of subsequent hemorrhage.8 Further prophylactic
measures include good hydration and the avoidance of hyperventilation, in order to decrease the likelihood of hypovolemia
or vasoconstriction.

TAKE-HOME POINTS
• Moyamoya disease (MMD) is a rare condition but
important cause of stroke in children.
• MMD usually affects the anterior cerebral circulation, but the posterior cerebral circulation can be
affected as well.
• MMD may cause occipital stroke in children and
thus should be considered in the differential diagnosis of acute vision loss.
• Direct and indirect surgical revascularization surgeries can be used to effectively revascularize areas
of brain affected by MMD and have been shown to
reduce the risk of stroke in patients with MMD.1

Disclosures
None.

References
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KEY WORDS: arteries ◼ cerebral hemorrhage ◼ encephaloduroarteri­
osynangiosis ◼ moyamoya disease ◼ neurosurgery ◼ pial synangiosis
◼ stroke

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