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A rare case of moyamoya disease in a 20-year-old Puerto Rican female U.S. soldier.

Moyamoya disease is a progressive, occlusive pathology involving the cerebral vasculature with particular involvement of the circle of Willis and its tributaries. The cause of moyamoya disease is unknown, but is believed to be hereditary. Females 20 to 39 years old with moyamoya represent 0.5% of all acute cerebral ischemia and infarcts with risk factors including smoking, estrogen-containing birth control use, coagulopathy, neoplasm, and congenital malformation. This case reports on a 20-year-old Puerto Rican female U.S. soldier with a 1-year history of migraine headaches with worsening right retro-orbital pain, blurred vision, and photophobia. The patient had minimal unilateral neurological deficits despite evidence of significant cerebral infarction on non-contrast computed tomography. Other neuroimaging findings were consistent with moyamoya disease with confirmation via cerebral angiography. This case details the process of diagnosis and treatment as well as discussing its incidence, identification, and treatment options.

Key words: Moyamoya, Cerebrovascular occlusive disease, Ischemia


La enfermedad de moyamoya es una patologia progresiva y oclusiva que involucra el sistema vascular cerebral; involucra particularmente el circulo de Willis y sus tributarios. Se desconoce la causa de la moyamoya, pero se cree que es hereditaria. Las mujeres de 20 a 39 anos de edad con moyamoya representan el 0.5% de todos los infartos e isquemias cerebrovasculares agudos con factores de riesgos que incluyen fumar, uso de anticonceptivos que contienen estrogeno, coagulopatia, neoplasma, y malformacion congenita. Este caso reporta una puertorriquena, soldado de E.U., que padece hace un ano de migranas con peor dolor retro orbital de la derecha, vision borrosa, y fotofobia. La paciente tuvo deficits neurologicas minimas a pesar de la evidencia de infarto cerebral en tomografia computarizada sin contraste. Otros hallazgos de neuroimagnes eran consistentes con la enfermedad de moyamoya confirmado via angiografia cerebral. Este caso detalla el proceso de diagnostico y tratamiento y discute su incidencia, identificacion y opciones de tratamientos.


Moyamoya disease is a rare, progressive cerebrovascular disorder secondary to arterial obstruction at the proximal Circle of Willis arteries. More common in pediatric patients, the first symptom is often stroke or recurrent transient ischemic attacks frequently accompanied by muscular weakness, seizures, or unilateral paralysis. Adults, however, frequently experience a nontraumatic intracerebral hemorrhage theorized to be secondary to formation of extensive collateral vessels with an increased proclivity of rupture. Most individuals with this disorder have disturbed consciousness, speech deficits, sensory and cognitive impairments, involuntary movements, and vision problems (1,2).

Case Report

A 20-year-old female soldier of Puerto Rican ancestry presented to the Womack Army Medical Center, Fort Bragg, NC emergency department (ED) following 7 days of right retro-orbital pain, 2 days of blurred vision and photophobia, as well as 1 day of nausea and neck pain. Her headaches increased during the previous month and intensified 4 days prior to presentation. At evaluation, mild paresthesia in her left arm was noted.

Her medical history revealed 1 year of migraine headaches lasting from 2 to 72 hours with unilateral throbbing pain and occasional blurred vision, generally controlled with Excedrin[R]. She had started estrogen-containing oral contraceptive medication 6 months prior without adverse effects.

The patient's Puerto Rican mother died of myocardial infarction at age 37 and her father, an African American, has a history of diabetes mellitus, hypertension, and dyslipidemia; there was no family history of coagulopathies. Her 3 siblings, including an identical twin sister, are all in good health. The patient worked as a water purification and fueling specialist and had not deployed overseas nor had any chemical exposures during her 18 months in the Army.

Her physical exam was unremarkable. A non-contrast head computed tomography (CT) revealed right subacute middle cerebral artery region ischemia without signs of hemorrhage. Other neuroimaging findings--magnetic resonance imaging (MRI), magnetic resonance angiogram (MRA), magnetic resonance venography (MRV), and computed tomography angiography (CTA)--were consistent with moyamoya disease and confirmed by cerebral angiography (Figures 1, 2).

The patient was transferred to the University of North Carolina neurosurgical department where her neurological findings resolved without intervention. She was medically discharged from the Army and underwent extracranial-intracranial bypass surgery to reduce the risk of stroke recurrence by improving the flow of blood to the blocked artery with revascularization. The patient has had no relapse of symptoms or persistent neurological deficits.


The prevalence and incidence of moyamoya disease varies between ethnic populations, including Caucasians, Asians, African Americans, Haitians, and Hispanics. While many cases have been reported in Japan (3), the disease has also been found in the United States (4-6) and Europe (7). The disease has a female-to-male ratio of 1.8:1. Age of moyamoya onset ranges from 6 months to 67 years with the highest peak in the first decade.

The first case of moyamoya disease was published in 1957 (8). The Japanese term "moyamoya" was later coined to describe the hazy, cloudy "puff of smoke" appearance of the network of dilated, abnormal microvasculature occurring in the region of the circle of Willis (2). The stages of angiographic progression were outlined as knowledge of the disease increased, from stage 1- narrowing of the carotid artery--to stage 6, when moyamoya vessels disappear and the external carotid arteries supply collateral flow. Although presumed to be hereditary, a clear etiology of moyamoya disease is unknown. Family history has been observed in 10% of moyamoya patients (9) and familial moyamoya disease may be autosomal dominant with incomplete penetrance that depends on age and genomic imprinting factors (10). Genetically, susceptibility loci have been found (11).

The outcome of moyamoya disease depends on the severity and nature of the hemorrhage; prognosis depends on recurrent ischemic attacks. Death usually follows intracranial hemorrhage with mortality rates about 10% in adults and 4.3% in children. Fifty to 60% of affected individuals experience a gradual deterioration of cognitive function, presumably from recurrent cerebral ischemia and infarction. Patients who present for treatment while symptoms are evolving have a better prognosis compared to those who present with static symptoms, usually indicative of a cerebral infarction and total loss of functional tissue.

Misdiagnosis and delayed diagnosis of moyamoya disease are common. Stroke is often the result of progressive or abrupt atherosclerotic occlusion of the carotid arteries which occurs in older adults who have several risk factors. In moyamoya disease, however, the only risk factor may be genetic. The diagnosis of stroke may be delayed as alternative etiologies are explored, such as hypercoagulable states.

Currently, there are few pharmacologic therapies for moyamoya disease. If nontraumatic intracerebral hemorrhage has occurred, then management of hypertension (if present) is imperative. In cases of severe cerebral ischemia and infarction, intensive care unit monitoring is indicated until the patients condition stabilizes. Anticoagulation or antiplatelet agents should be considered after ischemic attack. Inpatient medical recommendations include: aspirin use (2-5mg/kg in children or 50-100mg in adults) but no long-term anticoagulation; avoidance of hypocarbia associated with hyperventilation, hypotension, hypovolemia, and hyperthermia; isotonic fluid administration at 1.25-1.5 times maintenance rate; and oxygen supplementation (3).

Several factors contributed to the successful management of this patient. CT imaging was obtained early due to the patient s evolving migraine symptoms. Imaging studies were heavily utilized in diagnosis. MRI results reported "dilated collateral vessels in the basal ganglia and thalamus can be demonstrated as multiple punctuate flow voids, a finding which is virtually diagnostic for moyamoya." Although the criteria (Table 1) for the diagnosis of moyamoya are based on both angiography and magnetic resonance (12), recognition of this disease is often limited to those who consider moyamoya in the differential for patients with hemiparesis, monoparesis, sensory impairment, headaches, dizziness, seizures, or numerous other central neurological abnormalities.

Our patient was quickly diagnosed with moyamoya disease and treated. This was attributed in part to current diagnostic tests in place. Further research is necessary to recognize the symptoms and risk factors that suggest moyamoya. Once identified, additional efficacious treatment options can be sought.


(1.) Suzuki J, Kodama N. Moyamoya disease-a review. Stroke 1983; 14:104-109.

(2.) Suzuki J, Takaku A. Cerebrovascular" moyamoya" disease: disease showing abnormal net-like vessels in base of brain. Arch Neurol 1969;20:288.

(3.) Chiu D, Shedden P, Bratina P, Grotta JC. Clinical features of moyamoya disease in the United States. Stroke 1998;29:1347-1351.

(4.) Uchino K, Johnston SC, Becker KJ, Tirschwell DL. Moyamoya disease in Washington state and California. Neurology 2005;65:956-958.

(5.) Yilmaz EY, Pritz MB, Bruno A, Lopez-Yunez A, Biller J. Moyamoya: Indiana University medical center experience. Arch Neurol 2001;58:1274.

(6.) Starke RM, Crowley RW, Maltenfort M, et al. Moyamoya disorder in the United States. Neurosurgery 2012.

(7.) Yonekawa Y, Ogata N, Kaku Y, Taub E, Imhof HG. Moyamoya disease in Europe, past and present status. Clin Neurol Neurosurg 1997;99:S58-S60.

(8.) Takeuchi K., Shimizu K. Hypogenesis of bilateral internal carotid arteries. No To Shinkei 1957;9:37-43.

(9.) Fukui M, Kono S, Sueishi K, Ikezaki K. Moyamoya disease. Neuropathology 2000; 20:61-64.

(10.) Mineharu Y, Takenaka K, Yamakawa H, et al. Inheritance pattern of familial moyamoya disease: autosomal dominant mode and genomic imprinting. J Neurol Neurosurg Psychiatry 2006;77:1025-1029.

(11.) Mineharu Y, Liu W, Inoue K, et al. Autosomal dominant moyamoya disease maps to chromosome 17q25.3. Neurology 2008;70:2357-2363.

(12.) Fukui M, Members of the Research Committee on Spontaneous Occlusion of the Circle of Willis (Moyamoya Disease) of the Ministry of Health and Welfare. Guidelines for the diagnosis and treatment of spontaneous occlusion of the circle of Willis ('Moyamoya disease). Clin Neurol Neurosurg 1997;99:S238-S40.

Blake Busey, DO *; Cristobal S. Berry-Caban, PhD ([dagger]); Kyle Hoedebecke, MD ([double dagger]); Rachel N. Barts, BSCR ([section])

* Soldier Family Medical Center, Primary Care and Soldier Readiness, Fort Bliss, TX, USA; ([dagger]) Department of Clinical Investigation, Womack Army Medical Center, Fort Bragg, NC, USA; ([double dagger]) 82nd Combat Aviation Brigade, Fort Bragg, NC, USA; ([section]) Department of Clinical Investigation, Womack Army Medical Center, Fort Bragg, NC, USA

The authors have no conflicts of interest to disclose.

Address correspondence to: Cristobal S. Berry-Caban, PhD, Department of Clinical Investigation, Womack Army Medical Center, 2817 Reilly Road, Fort Bragg, NC 28310. Email:

Table 1. Criteria for the diagnosis of moyamoya disease in the
absence of other underlying etiologies *

Angiography                  Magnetic Resonance Angiography

Stenosis or occlusion at     Stenosis or occlusion at the terminal
the terminal internal        internal carotid artery and/or proximal
carotid artery and/or        anterior cerebral artery or middle
proximal anterior cerebral   cerebral artery on magnetic resonance
artery or middle cerebral    angiography

Abnormal vascular network    Abnormal vascular network in the basal
in the vicinity of the       ganglia on magnetic resonance
lesion in the arterial       angiography

Both seen BILATERALLY        Both seen BILATERALLY

* From: Fukui M, et al. Guidelines for the diagnosis and treatment of
spontaneous occlusion of the circle of Willis ('Moyamoya' disease).
Clin Neurol Neurosurg 1997;99:S238-S240.
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Title Annotation:CASE REPORTS
Author:Busey, Blake; Berry-Caban, Cristobal S.; Hoedebecke, Kyle; Barts, Rachel N.
Publication:Puerto Rico Health Sciences Journal
Date:Dec 1, 2014
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