Abstract
Moyamoya disease is a chronic, progressive occlusion of the circle of Willis arteries that leads to the development of characteristic collateral vessels seen on imaging, particularly cerebral angiography. The disease may develop in children and adults, but the clinical features differ. Moyamoya disease occurs predominantly in Japanese individuals but has been found in all races with varying age distributions and clinical manifestations. As a result, moyamoya disease has been underrecognized as a cause of ischemic and hemorrhagic strokes in Western countries. At this time, there is no known cure, and existing treatment options are controversial. The authors describe the case of a 44-year-old African American woman with a history of hypertension, cervical cancer, breast cancer, and stroke who was diagnosed as having moyamoya disease. A review of the literature for the various facets of this condition is also provided.
Moyamoya disease was first described in Japan by Takeuchi and Shimizu in 1957.
1 Although the disease is most common in Japan, many subsequent cases have been reported elsewhere, including North America and Europe.
2-5
Moyamoya disease is deemed a progressive steno-occlusive disease at terminal portions of the bilateral internal carotid arteries with the development of “moyamoya vessels” as collateral channels of circulation.
6-8 The appearance of these small, multiple vessels at the base of the brain on catheter angiography was originally described by the Japanese term
moyamoya, which translates to “puff of smoke.”
9
According to a 1998 report, which provided the most recent data available, a total of 239 cases of moyamoya disease had been reported in the United States as of 1996.
2 With disease progression, patients—children and adults—are likely to suffer ischemic or hemorrhagic stroke.
10 Although moyamoya syndrome has the same angiographic appearance as moyamoya disease, it is associated with other medical conditions such as arteriosclerosis, autoimmune disease, Down syndrome, head trauma, meningitis, neurofibromatosis type 1, and previous radiation therapy.
7,11
In the present report, we describe an African American woman who had a seizure after a surgical procedure. She was later diagnosed as having moyamoya disease. In light of this report, we review the literature on this condition.
A 44-year-old African American woman presented to the hospital for elective surgical placement of a cervical sleeve by her gynecologist-oncologist to allow for radiation treatment of her cervical cancer. After the procedure, while the patient was recovering in the inpatient unit, she suddenly had a seizure. According to the patient's mother, who was one of the witnesses to the seizure, the patient exhibited tonicoclonic movements of the bilateral arms with concurrent jerking of the head. The seizure lasted approximately 45 seconds. The patient was disoriented and weak after the episode. She did not have associated bowel or bladder incontinence or tongue or cheek biting during the seizure.
On evaluation, the patient stated that she had a similar episode 3 months ago and it was diagnosed as an ischemic stroke. Other than her elective cervical sleeve placement on the day of admission, her surgical history included lumpectomy 10 years ago for breast cancer. The patient's home medications included nifedipine, lisinopril, and hydrochlorothiazide. She had no known drug allergies. Her family history was notable for hypertension in her mother. The patient denied any family history of stroke, seizure, or cancer. Socially, the patient was unemployed and lived with her husband. She did not smoke cigarettes, consume alcohol, or use illicit drugs.
On physical examination, the patient had a pleasant disposition, was in no acute distress, and was awake, alert, and oriented to person, place, and time. She was obese, with a body mass index of 33.2. Vital signs (blood pressure, 144/88 mm Hg; body temperature, 98.8°F; heart rate, 104 beats per min) were notable for hypertension and tachycardia. Head, neck, and respiratory examinations were unremarkable (respiratory rate, 14 breaths per min; oxygen saturation, 98% on room air). Cardiovascular examination revealed tachycardia with regular rhythm. Findings from examinations of the abdomin, skin, extremities, and musculoskeletal system were within normal limits. On neurologic examination, the second through seventh cranial nerves were intact and without focal deficits. Equal sensation and strength was noted in the bilateral upper and lower extremities, and deep tendon reflexes were normal. The patient's gait was normal with no signs of cerebellar dysfunction.
Results of a complete metabolic panel on admission for the elective cervical sleeve placement were notable for hypokalemia and hypomagnesemia, which were corrected and remained within normal limits for the duration of the patient's hospital visit. Complete blood cell count showed normocytic anemia with normal leukocyte and platelet counts. Coagulation studies were within normal limits, and hypercoagulable workup was also normal. Specific tests for hypercoagulability disorders included activated protein C resistance, anticardiolipin antibody, antithrombin III, basal homocysteine, complete blood count (with examination of the peripheral smear), D dimer, Factor V Leiden, fibrinogen, lupus anticoagulant, partial thromboplastin time, protein S, prothrombin time, and thrombin time. Results were normal for all of these studies.
Diagnostic studies included a chest radiograph, which was unremarkable, and an electrocardiogram, which showed sinus tachycardia at 115 beats per minute. A magnetic resonance image (MRI) of the brain with and without gadolinium contrast revealed a moderate amount of increased signal in the periventricular white matter regions bilaterally. In addition, there was no evidence of any abnormal enhancement or mass or any acute or subacute infarction.
The radiologic differential diagnoses, given the rather prominent increased signal intensity in the periventricular white matter, suggested the possibility of a demyelinating process such as multiple sclerosis or chronic periventricular white matter leukomalacia secondary to small vessel ischemic disease, and deep white matter infarction commonly seen with hypertension, vasculitis, and diabetes.
A magnetic resonance angiogram (MRA) of the brain later exposed the absence of the middle and anterior cerebral arteries bilaterally. Marked hypertrophy of the lenticulostriate arteries bilaterally was also visible. These arteries were very large in caliber distally, concurrently revealing collateralization of the posterior cerebral arteries to the anterior cerebral artery distribution over the convexity (
Figure 1). In addition, a lateral view displayed the occlusion of the middle cerebellar arteries and anterior cerebellar arteries proximally (
Figure 2).
On day two of admission, the patient remained asymptomatic without further alteration in mentation or seizure-like activity. A computed tomography angiogram of the head and neck was performed to further delineate the architecture of the patient's arterial system. Thin axial images of the neck using 150 cm3 of iopamidol demonstrated the right vertebral artery to be much smaller than the left with unremarkable common carotid arteries. Axial images of the brain showed unremarkable cavernous carotid arteries as well as normal appearing basilar artery. Both posterior cerebral arteries were seen. However, the anterior cerebral arteries were not viewed and atresia of the proximal anterior middle cerebral arteries was present.
The constellation of these computed tomography angiogram findings combined with the findings of the brain MRA findings were consistent with moya moya disease. Despite the cerebrovascular disease manifested radiographically, the patient did not exhibit any decline in cognitive function.
After reviewing results of the studies and discussing the diagnosis with the patient, she was discharged from the hospital. She did not undergo surgery, but her condition has been managed with antihypertensive medications. The patient continues to follow up with the neurology service in the outpatient setting. She has been stable and stroke-free.
As previously stated, moyamoya disease is predominant in Japanese populations and can be overlooked in other patient populations. In the present report, thorough medical history, physical and neurologic examinations, laboratory tests, and diagnostic studies—particularly MRA—were essential to diagnosis of the patient's condition. In light of this report, we review the literature for the presentation, etiologic and pathologic processes, epidemiology, diagnosis, and prognosis of moyamoya disease.
A better understanding of the natural history of patients with moyamoya disease as well as the benefit of the various treatment modalities is needed. Ideally, structured randomized clinical trials would help provide insight into the optimal treatment methods for these patients. In the interim, management of moyamoya disease remains ill-defined and varies depending on the inherent practices of individual institutions.
Surgery can be beneficial, particularly if the diagnosis of moyamoya disease is made early. However, further prospective studies are necessary. Optimization of surgical techniques, perioperative care, and anesthesia will likely improve the benefit of surgical revascularization for future patients. Careful, long-term neurologic and radiologic follow-up is essential in adult patients with moyamoya disease to prevent additional stroke events and improve outcomes.
We thank Mark E. McKenzie, MD; Frederick Schaller, DO; and Dean Easton, MD, for their support.
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