Moyamoya disease associated with polycystic kidney disease and eosinophilic granuloma

Moyamoya disease has been associated with renal artery stenosis, cerebral hemorrhage, and multiple cranial traumas. We report a unique case of moyamoya disease associated with polycystic kidney disease and eosinophilic granuloma. Although the etiology of moyamoya disease is unknown, a familial pattern of occurrence has been documented. Of particular importance is its presentation with polycystic kidney disease, an autosomal dominant disease, suggesting a hereditary component to the etiology of this unusual vasculitic disease.     

Uncommon neurological manifestations of hemolytic anemia: a report of two cases

Neurological complications of hemolytic anemias are rather uncommon. We are reporting two cases of hemolytic anemia presenting as chorea and recurrent ischemic stroke. The first one is a case of chorea in a patient with sickle cell trait. Reviewing the literature we could find only one case report of chorea in sickle cell disease disease. The second is a case of recurrent ischemic stroke in hereditary spherocytosis. We could trace two reports on a Medline search, though their association was less certain.     

Moyamoya syndrome with spherocytosis: effect of splenectomy on strokes

A 3-year-old male patient with hereditary spherocytosis who developed moyamoya syndrome, presenting hemiplegia, and slurred speech is reported. Transient ischemic attacks occurred repeatedly with hemolytic crises. Magnetic resonance imaging and angiography revealed bilateral occlusion of the internal carotid and middle cerebral arteries with the formation of moyamoya vessels and multiple infarctions in the basal ganglia. Although splenectomy can increase the risk of stroke, no stroke occurred after splenectomy. On aspirin and dipyridamole therapy the patient has been free of neurologic deficits and progression of the vasculopathy for 5 years. This rare observation suggests that anemic hypoxia more greatly contributes to the progression of moyamoya syndrome than postsplenectomy thrombocytosis or reduced deformability of spherocytes.     

Cerebral manifestations in angioneurotic edema (author's transl)

Two patients with hereditary angioneurotic edema are described. A female patient, born in 1929, showed an infarction in the area of the right posterior cerebral artery, verified by computer tomography. The son of this patient, aged 20 years, suffered from a transitory ischemic attack and a prolonged reversible ischemic neurological deficit, both in the territory of the left middle cerebral artery. Etiology, symptomatology, therapy, and differential diagnosis of cerebral manifestations in angioneurotic edema are discussed in view of previously described cases.     

Monogenic vessel diseases related to ischemic stroke: a clinical approach.

The identification of stroke cases caused by monogenic disorders is important both for therapeutic decisions and genetic counselling, although they represent less than 1% of all stroke patients. The purpose of this review is to summarize genetic, pathological, and clinical features of single-gene disorders related to ischemic stroke. The following monogenic disorders are considered: cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, cerebral autosomal-recessive arteriosclerosis with subcortical infarcts and leukoencephalopathy, hereditary endotheliopathy with retinopathy, nephropathy, and stroke, Fabry disease, pseudoxanthoma elasticum, Neurofibromatosis type 1, familial MoyaMoya disease, Ehlers-Danlos syndrome type IV, Marfan syndrome. For each monogenic disorder, mode of inheritance, pathophysiological aspects, clinical phenotype, and diagnostic tools are carefully described. Furthermore, the classification of monogenetic disorders is presented according to stroke mechanisms, which include small vessel diseases, large artery diseases, and arterial dissections. This review could be useful to identify specific diagnostic pathways for patients with a suspicion of monogenic disease.     

Dementia in hereditary cerebral hemorrhage with amyloidosis-Dutch type is associated with cerebral amyloid angiopathy but is independent of plaques and neurofibrillary tangles.

Cerebral amyloid angiopathy is frequently found in demented and nondemented elderly persons, but its contribution to the causation of dementia is unknown. Therefore, we investigated the relation between the amount of cerebral amyloid angiopathy and the presence of dementia in 19 patients with hereditary cerebral hemorrhage with amyloidosis-Dutch type. The advantage of studying hereditary cerebral hemorrhage in amyloidosis-Dutch type is that patients with this disease consistently have severe cerebral amyloid angiopathy with minimal neurofibrillary pathology. The amount of cerebral amyloid angiopathy, as quantified by computerized morphometry, was strongly associated with the presence of dementia independent of neurofibrillary pathology, plaque density, or age. The number of cortical amyloid beta-laden severely stenotic vessels, vessel-within-vessel configurations, and cerebral amyloid angiopathy-associated microvasculopathies was associated with the amount of cerebral amyloid angiopathy and dementia. A semiquantitative score, based on the number of amyloid beta-laden severely stenotic vessels, completely separated demented from nondemented patients. These results suggest that extensive (more than 15 amyloid beta-laden severely stenotic vessels in five frontal cortical sections) cerebral amyloid angiopathy alone is sufficient to cause dementia in hereditary cerebral hemorrhage with amyloidosis-Dutch type. This may have implications for clinicopathological correlations in Alzheimer's disease and other dementias with cerebral amyloid angiopathy.     

Occipital infarction with hemianopsia from carotid occlusive disease

Extracranial internal carotid artery occlusive disease usually produces stroke in the middle cerebral artery territory or the border zone between the middle and anterior cerebral arteries. It is unusual for occipital infarction in the posterior cerebral artery territory to be caused by internal carotid artery disease despite the fact that the posterior cerebral artery may arise directly from the internal carotid artery as an anatomic variation. We describe a patient with a fetal posterior cerebral artery originating from the internal carotid artery, and the initial manifestation of his extracranial internal carotid artery occlusive disease was hemianopsia from occipital infarction.     

Small artery dementia in Japan: radiological differences between CADASIL, leukoaraiosis and Binswanger's disease

CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a hereditary small artery disease which is phenotypically similar to Binswanger's disease (BD), a nonhereditary form of small artery disease. Recent studies have indicated that lesions in the temporopolar, medial frontopolar areas and external capsule are frequently seen in Caucasian patients with CADASIL. However, it remains unclear whether magnetic resonance (MR) imaging findings are helpful in diagnosing small artery disease outside countries with Caucasian populations, since CADASIL is rare despite the high prevalence of small artery disease in Japan. We examined 58 patients with small artery disease, all of whom were devoid of major vessel occlusion or severe stenosis. These patients included 7 patients from 3 families with CADASIL, 27 nondemented patients with extensive leukoaraiosis (LA) and 24 patients with BD. On T(2)-weighted MR images, hyperintensities in the temporopolar areas were observed in all 7 patients with CADASIL, whereas these lesions were observed in only 1 subject from each of the nondemented LA and BD groups. Hyperintensities in the medial frontopolar areas were seen in 4 of the 7 patients with CADASIL (57%) and in 14 of the 24 patients with BD (58%), and were more frequent than in the nondemented LA group (4 of the 27 patients; 15%). In contrast, hyperintensities in the external capsule were frequently observed in all groups. Therefore, temporopolar lesions can also serve as diagnostic markers for CADASIL in non-Caucasian patients.     

Cerebral infarction associated with protein C deficiency.

BACKGROUND AND PURPOSE: A deficiency of plasma protein C, both the hereditary and acquired types, is one cause of thromboembolic disease. Several antineoplastic agents have been reported to decrease the production of protein C in the liver by impairing either the absorption or metabolism of vitamin K, leading to acquired protein C deficiency. CASE DESCRIPTION: We treated a young woman with protein C deficiency, who had developed a cerebral infarction of the right parietal cortex of sudden onset. On admission, the antigenic level of plasma protein C was 38%. Serial cerebral angiography revealed occlusion of the right middle cerebral artery, which subsequently recanalized completely. This patient had taken fluorouracil derivatives orally for as long as 3 years following a left mastectomy for stage II breast cancer. Tests revealed that the patient's mother had only one-half the normal activity of plasma protein C despite a normal antigenic level. CONCLUSIONS: We speculate that the etiology of the cerebral infarction in this patient might involve an embolic mechanism associated with protein C deficiency induced by an interaction between inherited and acquired factors.     

Cerebral hemodynamics in adult ischemic-type patients with moyamoya disease compared with those of atherothrombotic middle cerebral artery occlusion]

We measured regional cerebral blood flow (rCBF) in adult ischemic-type patients with moyamoya disease and in patients with atherothrombotic middle cerebral artery occlusion (MCAO) to investigate cerebral hemodynamics in adult ischemic-type of moyamoya disease. In this study we measured rCBF and regional cerebrovascular response (rCVR) using acetazolamide by Xenon-enhanced CT. Our subjects consisted of 15 adult ischemic-type patients with moyamoya disease and 27 atherothrombotic stroke patients with proximal occlusion of the middle cerebral artery. The region of interest was conducted in the anterior cerebral artery, middle cerebral artery and posterior cerebral artery territories as well as basal ganglia regions. rCBF was preserved in all regions of patients with moyamoya disease. However, rCVR severely decreased in the anterior circulation territory in patients with moyamoya disease compared with those of MCAO. These results suggest that rCBF in the anterior circulation territory of adult ischemic-type patients with moyamoya disease is preserved by vasodilation of the cerebral arteries, while cerebral hemodynamic reserve capacity is severely reduced. The results indicated that basal moyamoya vessels are dilated. These findings may be one of the reasons why stroke occurs more frequently in adult than child patients with moyamoya disease.     

Progressive dementia, without cerebral hemorrhage, in a patient with hereditary cerebral amyloid angiopathy

A now 58-year-old female patient, carrier of the point-mutation in the β-amyloid gene on chromosome 21 which causes hereditary cerebral hemorrhage with amyloidosis — Dutch type, developed progressive dementia after the age of 55 years. She never suffered from a cerebral hemorrhage. Dementia has been described as a feature of hereditary amyloid angiopathy before, but only in patients who also suffer from strokes. The clinical manifestation of the patient described here underlines the relation between the Dutch type of hereditary amyloid angiopathy and (familial) Alzheimer's disease.     

单基因遗传性脑小血管病：一种累及多系统的遗传性疾病

【摘要】 单基因遗传性脑小血管病是一种临床以脑小血管病表现为共同特征,累及多系统的单基因遗传性疾病。其中单基因遗传性脑小血管病的致病基因、突变形式、基因表型和临床表现是临床诊断的关键,同时对它的了解是进一步研究此类疾病的前提。     

Fetal posterior cerebral artery in pediatric and adult moyamoya disease: A single-center experience of 480 patients

PurposeIn past pediatric and adult cohort studies of moyamoya disease, the fetal posterior cerebral artery has received less attention. Its relationship with the clinical manifestations and collateral circulation of moyamoya disease or ipsilateral cerebral hemispheres remains unclear.MethodWe summarize the clinical features of patients with and without fetal posterior cerebral artery moyamoya disease from consecutive cases.We explored the relationship between fetal posterior cerebral arteries and collateral circulation in the ipsilateral cerebral hemispheres, as well as differences among different subgroups of patients.According to the morphology, the fetal posterior cerebral artery is divided into complete fetal posterior cerebral artery and partial fetal posterior cerebral artery. Clinical features were classified as: infarction,hemorrhage,and non-stroke in unilateral/bilateral cerebral hemispheres. Collateral circulation is divided into extracranial vascular compensation and leptomeningeal collateral circulation. Digital subtraction angiography and CT/MR were used to evaluate the blood flow status and clinical characteristics of patients with moyamoya disease.ResultA total of 960 cerebral hemispheres from 142 pediatric patients and 338 adult patients were included in the study. A total of 273 (56.9%) patients had 399 cerebral hemispheres (41.6%) with fetal posterior cerebral arteries. Adults with fetal posterior cerebral arteries had lower rates of infarction (24.6%vs37.3%, P =0.005) and were less likely to have bilateral stroke (8.4%vs11.5%, P =0.038). Cerebral hemispheres with fetal posterior cerebral artery were more likely to have anterior cerebral artery and middle cerebral artery stenosis and less likely to have occlusion (P =0.002, 0.001), and less likely to involve the posterior circulation (P < 0.001). The cerebral hemispheres of the fetal posterior cerebral artery had higher leptomeningeal collateral circulation scores. There are significant differences in extracranial vascular compensation between cerebral hemispheres with and without fetal posterior cerebral artery. Adult patients with fetal posterior cerebral artery were more advanced in Suzuki stage (P =0.017).ConclusionsOur results suggest that fetal posterior cerebral artery is associated with infarct manifestations in pediatric and adult moyamoya disease. In the cerebral hemispheres, the fetal posterior cerebral artery is associated with ipsilateral hemispheric anterior and posterior circulation artery injury, extracranial vascular compensation, leptomeningeal collateral circulation compensation, and infarction. Adult patients with fetal posterior cerebral artery were more advanced in Suzuki stage.     

Single-gene stroke disorders

Monogenic causes of stroke are rare but should not be missed by the neurologist. The purpose of this review is to aid the reader in the evaluation of a patient with cryptogenic stroke with or without a family history suspicious for an inherited condition. The clinical findings, diagnosis, and management of monogenic causes of stroke and stroke look-alikes are discussed, including cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, Fabry's disease, vascular Ehlers-Danlos, Marfan syndrome, sickle cell disease, the thrombophilias, hereditary hemorrhagic telangiectasia, cerebral cavernous malformations, hereditary cerebral hemorrhage with amyloidosis, and mitochondrial encephalopathy, lactic acidosis, and strokelike episodes. A quick review of systems designed to screen for genetic stroke causes is presented. By correlating stroke subtype with phenotype, this review will familiarize the clinician with indications for focused genetic testing in appropriate patients.     

Spiral computed tomography angiography in the assessment of middle cerebral artery occlusive disease.

There has been no report on the use of spiral computed tomography angiography (CTA) in the investigation of intracranial cerebral artery stenosis. A prospective pilot study was conducted to investigate the feasibility of CTA in the diagnosis of intracranial occlusive disease and its correlation with transcranial Doppler. With transcranial Doppler, 10 patients with acute ischaemic stroke with middle cerebral artery stenosis or occlusion were identified. There were seven middle cerebral artery stenoses and five middle cerebral artery occlusions. The CTA confirmed all diagnoses by transcranial Doppler except in one patient with middle cerebral artery occlusion in whom the embolus had probably propagated. The results showed that CTA is feasible and potentially useful in the diagnosis of middle cerebral artery occlusive disease. Further studies are required to assess its validity, sensitivity, and specificity in the diagnosis of middle cerebral artery occlusive disease.     

Moyamoya disease in fraternal twins

The authors have reported here fraternal twins of moyamoya disease. The one has the onset at the age of two years and six months. Then he had suffered from multiple cerebral infarction and resulting in severe neurological deficits. Now he has right hemiparesis, left homonymous hemianopsia, aphasia and mental retardation. The encephalomyo synangiosis was done to the boy bilaterally at the age of five years. The other one has the onset at the age of five years and five months. He had good physical and neurological development. The Superficial temporal artery-Middle cerebral artery anastomosis and Encephalomyo synangiosis were done bilaterally. Now his development has no problems. The twins and their younger sister all have the same HLA type. The hereditary and environmental factors may be completely related to the pathogenesis of this disease.     

The arterial patterns associated with internal carotid disease and cerebral infarcts

In 20 necropsies with 15 stenosed and 17 thrombotic occluded internal carotid arteries there were 46 cerebral infarcts larger than 1 cm diameter. Using portmortem arteriographic and pathological techniques the patterns of the neck and brain artery systems were correlated with the situation and extent of the brain infarcts. Massive infarcts involving two major cerebral artery territories were associated with distal internal carotid artery occlusion and grossly ineffective cervical and circle of Willis anastomoses. Isolated middle cerebral artery territory infarcts were associated with internal carotid occlusion or stenosis and impairment of the circle of Willis anastomoses, perhaps with middle cerebral artery stenosis. The pattern of adequate size arteries determined if these infarcts were total, deep central, anterior, medium or posterior partial territory infarcts. Boundary zone infarcts were associated with internal carotid artery disease and limitation of anterior or posterior circle of Willis anastomoses. These limitations determined which boundary zones were affected. Isolated anterior cerebral artery territory infarcts were associated with bilateral internal carotid disease and an anterior cerebral artery stenosis or small caliber anterior communicating artery. Isolated posterior cerebral artery territory infarcts were associated with internal carotid disease and a direct impairment of the ipsilateral posterior cerebral artery capability.     

Lymphocyte concanavalin A capping in hereditary cerebral haemorrhage with amyloidosis — Dutch type

Summary Lymphocyte capping with concanavalin A was studied in 11 patients with hereditary cerebral haemorrhage with amyloidosis (Dutch type) and 10 controls. No difference in capping was found between patients and controls. Abnormal lymphocyte concanavalin A capping has been reported in patients with the Icelandic type of cerebral amyloidosis and in patients with Alzheimer's disease, a disease in which cerebral amyloid angiopathy can also be found. The results suggest a difference in pathogenesis between the Dutch type of cerebral amyloidosis and the other amyloid diseases.Members of the Amyloid Research Group, Leiden     

Anterior cerebral artery velocity changes in disease of the middle cerebral artery stem

Transcranial Doppler ultrasonography can map the changes in blood velocity that result from stenosis or occlusion of the middle cerebral artery. To evaluate patterns of collateral blood flow in disease of the middle cerebral artery stem, we used both cerebral angiography and transcranial Doppler ultrasonography to study the systolic blood velocities in both anterior cerebral arteries in 10 consecutive patients with middle cerebral artery stenosis or occlusion. Five patients had no evidence of hemodynamically significant carotid disease and good-quality measurements of systolic velocity in each anterior cerebral artery. Two of the five patients had middle cerebral artery stem stenosis and the other three had occlusion. The ratios of mean blood velocity in the normal compared with the abnormal side for the five patients (mean 1.34 +/- 0.23, range 1.15-1.74) were significantly higher than ratios for 10 controls (mean 1.04 +/- 0.12, range 0.76 +/- 1.19) using an unpaired t test (t = 3.492, 0.0005 less than p less than 0.005). Our results suggest that transcranial Doppler ultrasound measurements of anterior cerebral artery blood velocity may be a useful index of collateral blood flow from the anterior cerebral artery territory into the middle cerebral artery territory. Changes in mean velocity ratio may document the evolution and adequacy of collateral blood flow over the cerebral convexity in middle cerebral artery stem disease. In addition, the changes in anterior cerebral artery blood velocity appear to be an important corroborative finding for middle cerebral artery stem occlusion.     

320排动态容积CT诊断脑血管病的价值

目的探讨320排动态容积cT诊断脑血管病的价值。方法对80例怀疑脑血管病患者行320排动态容积cT检查,经两位有经验的神经影像医师读片,评估其诊断价值。结果80例患者发现颅内血管性病变75例,其中60例为颅内动脉瘤,10例脑动脉硬化,3例脑动静脉畸形,2例烟雾病,5例未发现明确原因。结论320排动态容积CT-次扫描16cm容积数据采集,实现脑血管病cT平扫、脑血管造影及脑灌注一站式检查,具有快速、无创、准确性高等优点,对诊断脑血管疾病具有很高临床价值。