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Guidelines for Diagnosis and Treatment of Moyamoya Disease (Spontaneous Occlusion of the Circle of Willis)

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Guidelines for Diagnosis and Treatment of Moyamoya Disease (Spontaneous Occlusion of the Circle of Willis) Neurol Med Chir (Tokyo) 52, 245¿266, 2012 Guidelines for Diagnosis and Treatment of Moyamoya Disease (Spontaneous Occlusion of the Circle of Willis) Research Committee on the Pathology and Treatment of Spontaneous Occlusion of the Circle of Willis; Health Labour Sciences Research Grant for Research on Measures for Intractable Diseases CHAPTER I: CONCEPTS OF THE DISEASE Concepts of the Disease (ii) Abnormal vascular networks in the vicinity of the occlusive or stenotic lesions in the ar- The characteristics of moyamoya disease (spontane- terial phase. ous occlusion of the circle of Willis, cerebrovascular (iii) Bilaterality of findings (i) and (ii). ``moyamoya'' disease) on cerebral angiography were (2) However, when magnetic resonance imaging reported for the first time in 1957,8) and the concept (MRI) and magnetic resonance angiographic of moyamoya disease as a separate disease entity (MRA) findings meet all of the following criteria, was established in the 1960s.1–3,6,7) Pathologically, cerebral angiography can be omitted. See the moyamoya disease is characterized by chronic ``Guidelines for Diagnostic Imaging by MRI and progressive stenosis of the terminal portion of the MRA.'' bilateral internal carotid arteries, which leads to the (i) MRA shows stenosis or occlusion of the ter- formation of an abnormal vascular network com- minal portion of the intracranial internal posed of collateral pathways at the base of the brain carotid artery or proximal portions of the (moyamoya vessels at the base of the brain) anterior and/or the middle cerebral artery. (`moyamoya' is the Japanese term for a ``puff of (ii) MRA shows abnormal vascular networks in smoke,'' which has been used to describe the appear- the basal ganglia. ance of these collateral vessels on cerebral angio- Note: When 2 or more visible flow voids are grams6)). Eventually, with bilateral internal carotid present in the basal ganglia on MRI, at least artery occlusion, the moyamoya vessels at the base unilaterally, they can be deemed as repre- of the brain derived from the internal carotid arte- senting an abnormal vascular network. ries disappear, and the entire brain is perfused by (iii) Bilaterality of findings (i) and (ii). the external carotid artery system and the ver- (3) Moyamoya disease is an illness of unknown eti- tebrobasilar artery system.1–3,5–7) This disease is in- ology. The differential diagnosis of this disease cluded in the list of diseases for Research on Meas- includes similar cerebrovascular lesions associ- ures for Intractable Diseases and the Specified Dis- ated with the following underlying diseases, ease Treatment Research Program specified by the which should, therefore, be excluded: (i) atheros- Ministry of Health, Labour and Welfare. Currently, clerosis, (ii) autoimmune disease, (iii) meningitis, the diagnostic criteria for moyamoya disease (spon- (iv) brain tumors, (v) Down's syndrome, (vi) von taneous occlusion of the circle of Willis) laid down Recklinghausen's disease, (vii) head injury, (viii) by the research committee are as follows.4) cerebrovascular lesions after head irradiation, and (ix) others. Diagnostic Criteria3) (4) Pathological findings that can be used as refer- ences for the diagnosis (1) Cerebral angiography is considered essential for (i) Thickening of the arterial intima, mainly in the diagnosis, and must show at least the follow- the terminal portion of the internal carotid ing findings: arteries, and narrowing or blockage of the (i) Stenosis or occlusion of the terminal portion lumen caused by this change, usually bilater- of the intracranial internal carotid artery or al. Occasionally, lipid deposits are also proximal portions of the anterior and/or the present in the thickened intima. middle cerebral artery. (ii) Arteries such as the anterior, middle, and 245 246 Guidelines for Diagnosis and Treatment of Moyamoya Disease posterior cerebral arteries forming the circle References of Willis occasionally show varying degrees 1) Kudo T: [Occlusion of the internal carotid artery and of stenosis or occlusion associated with the type of recovery of cerebral blood circulation]. Rin- fibrocellular thickening of the intima, wavi- sho Shinkeigaku 1: 199–200, 1960 (Japanese) ness of the internal elastic lamina, and thin- 2) Kudo T: Spontaneous occlusion of the circle of Willis. ning of the media. A disease apparently confined to Japanese. Neurology 18: 485–496, 1968 (iii) Numerous small vascular channels (per- 3) Nishimoto A, Takeuchi S: Abnormal cerebrovascular forating and anastomotic branches) can be network related to the internal carotid arteries. JNeu- seen around the circle of Willis. rosurg 29: 255–260, 1968 (iv) Pia mater may also show reticular con- 4) Research Committee on Spontaneous Occlusion of the glomerates of small vessels. Circle of Willis (Moyamoya Disease): [Research on Spe- cified Diseases of the Ministry of Health, Labour and Diagnostic Assessment Welfare 1998 Research Report: Latest Diagnostic and Treatment Guidelines]. 1998 (Japanese) Moyamoya disease should be classified as definitive 5) Suzuki J, Kodama N: Cerebrovascular ``Moyamoya'' or probable based on the above-mentioned items (1) disease. 2. Collateral routes to forebrain via ethmoid to (4). When autopsy is performed in the absence of sinus and superior nasal meatus. Angiology 2: cerebral angiography, the condition should be diag- 223–236, 1971 6) Suzuki J, Takaku A: Cerebrovascular ``moyamoya'' nosed based on the criteria in item (4). disease. Disease showing abnormal net-like vessels in Definitive moyamoya disease: All criteria listed in base of brain. Arch Neurol 20: 288–299, 1969 (1) or (2) and in (3) should be met. In children, 7) Suzuki J, Takaku A, Asahi M, Kowada M: [Examina- however, the criteria in item (1) or (2) (i) and (ii) on tion of disease groups showing abnormal reticular vas- one side, and visible stenosis around the terminal cular images at the base of the brain that frequently oc- portion of the internal carotid arteries on the other cur in Japanese people]. No To Shinkei 17: 767–776, side are sufficient for a definitive diagnosis. 1965 (Japanese) Probable moyamoya disease: All criteria are ful- 8) Takeuchi K, Shimizu K: [Hypogenesis of bilateral in- filled except item (1) (iii) and/or item (2) (iii) among ternal carotid arteries]. No To Shinkei 9: 37–43, 1957 the criteria of (1) or (2) and (3). (Japanese) CHAPTER II: EPIDEMIOLOGY Moyamoya disease (spontaneous occlusion of the large-scale national epidemiological surveys were circle of Willis) is a disease that occurs frequently in conducted in 1984, 1990, and 1994. Asian countries, including Japan, but is rare in Western countries. Epidemiological data reported Number of Patients and from Japan are extremely valuable worldwide. Male-to-Female Ratio Early epidemiological surveys in Japan include an evaluation in 376 patients performed by Kudo5) in In a national epidemiological survey conducted by the early 1970s and an evaluation in 518 patients Wakai et al.8) in 1994, approximately 3,900 people conducted by Mizukawa et al.6) Thereafter, a were estimated to be suffering from moyamoya dis- research committee on spontaneous occlusion of the ease(Tobemoreprecise,thiswasthenumberof circle of Willis was established in 1977. Since 1983, patients examined). Moyamoya disease affects 3.16 case registration and follow-up investigation have people per 100,000 persons, and occurs at an inci- been carried out each year at medical institutions to dence of 0.35 people per 100,000 population. Ac- which the committee members belong and their cording to the ``number of patients having a certifi- related facilities throughout Japan. As of 2006, there cate for medical care for specified (intractable) dis- were a total of 962 patients, including 785 with a ease: Occlusive disease in circle of Willis,'' the num- definitive diagnosis of moyamoya disease, 60 with a ber of patients with moyamoya disease markedly in- probable diagnosis, and 62 with quasi-moyamoya creased from 5,227 patients in 1994 to 10,812 disease, registered in the database of this research patients in 2005. If a national survey were conduct- committee on spontaneous occlusion of the circle of ed again now, it is expected that the number of Willis.7) patients would have grown further from that in In addition to accumulation of cases in the data- 1994. This may be attributable to the spreading base at the committee members' institutions, three awareness of and familiarity with the concepts of Neurol Med Chir (Tokyo) 52, May, 2012 Guidelines for Diagnosis and Treatment of Moyamoya Disease 247 Fig. 1 Age of onset by sex.7) moyamoya disease, as well as the establishment of the ``Guidelines for Diagnostic Imaging by MRI and MRA'' in 1995, which enabled the diagnosis of moyamoya disease based on only the MRA findings. Fig. 2 Age of onset by disease type of the initial attack.7) TIA: transient ischemic attack. The male:female ratio reported from various stu- dies is nearly consistent,7,8) 1:1.8 to 1.9. The disease is more common in women. In addition, a positive family history has been reported in about 10.0% of the patients.8) Age of Onset The 1994 national survey8) and 2006 database evalu- ation7) showed a similar trend in relation to the age at onset of moyamoya disease: a bimodal peak con- sisting of a major peak in the first decade of life and amoderatepeakinthelate20sto30s(Fig.1). However, a recent report has indicated a higher age as compared with that mentioned above as the peak age at onset.1) The various disease types by which the initial at- Fig. 3 Age of onset of ischemic-type and hemorrhagic- tack can manifest are presented in detail in Chapter type moyamoya disease (n ＝ 1127). IV: Symptoms. The 2006 database evaluation7) has reported a unimodal peak age at onset in the late 20s for initial attacks of the hemorrhagic type, but a bi- crease in the number of people undergoing medical modal peak for initial attacks of other disease types checkup procedures for the brain.
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