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Moyamoya Disease
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Moyamoya is a Japanese word for a cloud of smoke or haze ; it has been used in recent years to refer to an extensive basal cerebral rete mirabile a network of small anastomotic vessels at the base of the brain around and distal to the circle of Willis, seen in carotid arteriograms, along with segmental stenosis or occlusion of the terminal parts of both internal carotid arteries Nishimoto and Takeuchi have reported on 111 cases that were selected on the basis of these two radiologic criteria The condition was observed mainly in infants, children, and adolescents (more than half the patients were less than 10 years of age, and only 4 of the 111 were above age 40) All of the patients were Japanese; both males and females were affected, and 8 were siblings The symptom that led to medical examination was usually a sudden weakness of an arm, leg, or both on one side The weakness tended to clear rapidly but recurred in some instances Headache, convulsions, impaired mental clarity, visual disturbance, and nystagmus occurred less frequently In older patients, subarachnoid hemorrhage was the most common initial manifestation Other symptoms and signs were speech disturbance, sensory impairment, involuntary movements, and unsteady gait Only 6 of the entire series became worse after the initial illness, and 4 died Characteristics noted by others include prolonged TIAs (this accords with our experience), characteristically induced by hyperventilation or hyperthermia, parenchymal rather than subarachnoid hemorrhages (most are situated in the basal ganglia or thalamus), and an unusual rebuildup EEG phenomenon in which high-voltage slow waves reappear 5 min after the end of hyperventilation Postmortem examination of these cases has yielded a reason-
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ably clear picture of the distal carotid lesion The adventitia, media, and internal elastic laminae of the stenotic or occluded arteries were normal, but the intima was greatly thickened by brous tissue No in ammatory cells or atheromata were seen In a few cases, hypoplasia of the vessel with absent muscularis has been described The rete mirabile consists of a ne network of vessels over the basal surface (in the pia-arachnoid), which, according to Yamashita and coworkers, reveal microaneurysm formation due to weakness of the internal elastic lamina and thinness of the vessel wall The latter lesion is the source of subarachnoid hemorrhage Thus one part of the symptomatology is traced to the distal carotid stenosis and another to the rupture of the vascular network This form of cerebrovascular disease is not limited to the Japanese The authors have periodically observed such patients, as have others, in the United States, western Europe, and Australia Opinion is divided as to whether the basal rete mirabile represents a congenital vascular malformation (ie, a persistence of the embryonal network) or a rich collateral vascularization secondary to a congenital hypoplasia, acquired stenosis, or occlusion of the internal carotid arteries early in life The association between moyamoya, Down syndrome, and certain HLA types favors a hereditary basis (Kitahara et al) Treatment The treatment of moyamoya is far from satisfactory Certain surgical measures have been employed, including transplantation of a vascular muscle ap, omentum, or pedicle containing the super cial temporal artery to the pial surface of the frontal lobe, with the idea of creating neovascularization of the cortical convexity These measures have reportedly reduced the number of ischemic attacks, but whether they alter the natural history of the illness cannot be stated Anticoagulation has been considered risky in view of the possibility of cerebral hemorrhage, but there are no systematic studies
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but the vessels in these regions have never been adequately studied (by serial sections) Yet another problem, as mentioned, is to distinguish such a state from de cits produced by the cumulative effect of numerous larger lacunes, which have for a century been known to cause the aforementioned syndromes of dementia, gait disturbance, and a pseudobulbar syndrome From time to time, imaging studies of the brain disclose large regions of white matter change or the occurrence of multiple infarctions in the absence of hypertension, and it is not clear how such cases should be classi ed Some prove to be areas of demyelination or metabolic dysmyelination, others are mitochondrial disorders, and perhaps some are related to the familial syndrome discussed below Fabry disease also enters into the differential diagnosis of multiple small infarctions in the cerebrum that may coalesce into areas of white matter damage (page 839) Readers should consult the reviews by Babikian and Ropper, by Caplan, and by Mohr and Mast
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Familial Subcortical Infarction (CADASIL)
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A process similar to Binswanger leukoencephalopathy, but without hypertension, has been identi ed as an autosomal dominant familial trait linked in several families to a mutation on chromosome 19 It had been described previously under a number of names, including hereditary multi-infarct dementia The acronym CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is now applied In these patients, recurrent small strokes, often beginning in early adulthood, culminate in a subcortical dementia Migraine headaches, often with neurologic accompaniments, may precede the strokes by several years, as may numerous and varied TIAs that are attributed, probably incorrectly, to the migraine Some individuals display few clinical changes; others are demented or have strokes that simulate lacunes We are unable to comment on the encephalopathy and coma, in some cases accompanied by fever, described by Schon and colleagues It seems to represent another very rare condition The familial nature of the process may not be appreciated because genetic penetrance is not complete until after 60 years of age On MRI scans, clinically unaffected family members may show substantial changes in the white matter well before strokes or dementia arises In some cases, particularly in Japan, early alopecia and lumbar spondylosis have been associated with CADASIL The MRI and CT appearance of multiple con uent white matter lesions of various sizes, many quite small and concentrated around the basal ganglia and periventricular areas, is similar to that in Binswanger disease When these are asymmetrical and periventricular, they are dif cult to distinguish from the lesions of multiple sclerosis In the autopsy cases studied by Jung and colleagues, numerous partially cavitated infarctions were found in the white matter and basal ganglia In the regions of these infarctions were small vessels, 100 to 200 mm diameter, in which the media contained basophilic granular deposits with degeneration of the smooth muscle bers Attribution of the white matter degeneration to these vascular changes presents the same problems as in Binswanger disease, particularly in view of patency of most of the many small vessels in the material Again, the relation of the vascular changes to lesions in the brain has not been studied in serial sections Nevertheless, CADASIL is probably the main cause of sporadic instances of what otherwise passes for Binswanger disease but without the obligate hypertension of the latter Also, migraine headaches are not a component of Binswanger disease
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