Moyamoya disease in children

Moyamoya disease is an uncommon cerebrovascular disease characterized by progressive steno-occlusive changes in the terminal internal carotid arteries (ICA) and their main branches, associated with the development of moyamoya vessels. The incidence of the disease is high in east Asia, especially in Japan and Korea. The familial form accounts for 10-15%. Moyamoya disease has two age distribution peaks at around 5 and 40 years. Most pediatric patients exhibit transient ischemic attacks or infarction. Headache and involuntary movements are serious symptoms associated with pediatric moyamoya disease. MRI and MR angiography (MRA) are useful and non-invasive methods for diagnosing or monitoring moyamoya disease. Cerebral angiography is still the gold standard for a diagnosis, however, it is not mandatory when MRI and MRA show typical findings of moyamoya disease; steno-occlusive changes at the ends of ICA and an abnormal vascular network in the basal ganglia. Other MRI findings have been reported, including T2 shortening in the white matter, the ivy sign on fluid-attenuated inversion recovery (FLAIR) images, and medullary streaks on FLAIR or enhanced T1-weighted images.     

Moyamoya Syndrome: A Window of Moyamoya Disease

Moyamoya-like vasculopathy develops in association with various systemic diseases and conditions, which is termed moyamoya syndrome. Relatively common diseases and conditions are related to moyamoya syndrome, including neurofibromatosis type 1, Down syndrome, thyroid disease, and cranial irradiation. Moyamoya syndrome shares phenotypical characteristics with idiopathic moyamoya disease. However, they differ in other details, including clinical presentations, natural history, and treatment considerations. The study of moyamoya syndrome can provide clinicians and researchers with valuable knowledge and insight. Although it is infrequently encountered in clinical practice, moyamoya-like vasculopathy can severely complicate outcomes for patients with various underlying diseases when the clinician fails to expect or diagnose moyamoya syndrome development. Furthermore, moyamoya syndrome could be used as a doorway to more enigmatic moyamoya disease in research. More comprehensive survey and investigation are required to uncover the secrets of all the moyamoya-like phenomena.     

Moyamoya-like vasculopathy (moyamoya syndrome) in children

Introduction A large variety of inherited or acquired childhood disorders and conditions may present in conjunction with progressive bilateral stenosis and/or occlusion of the terminal segments of the internal carotid artery. In addition, the development of pathological collateral vessels can be observed in the vicinity of the steno-occlusive changes in these patients. This condition is known as moyamoya-like (MML) vasculopathy. The natural history, the angiographic appearance, and the pathology of MML vasculopathy probably differ from those of definite moyamoya disease. Adequate cerebral vascular imaging should be considered in all pediatric patients with inherited or acquired systemic disorders and symptoms attributable to cerebral ischemia. Cases and discussion We present four pediatric cases of MML vasculopathy, and outline the etiology, the current classification, and the therapeutic approaches for this heterogeneous disease entity.     

Primary cerebellopontine angle craniopharyngioma in a patient with Gardner syndrome

Craniopharyngiomas usually involve the sella and suprasellar space. Ectopic craniopharyngiomas have rarely been reported at the cerebellopontine angle (CPA). We report a rare primary craniopharyngioma of the CPA without extension into the sellar region. The lesion was initially detected by MRI during investigation of multiple scalp fibromas. Multiple osteomas of the skull and face were detected 2 years later, and colonic adenomatous polyposis was detected 4 years later; typical features of Gardner syndrome. This is the third report of a primary CPA craniopharyngioma in a patient with Gardner syndrome.     

甲状腺功能亢进与moyamoya综合征的研究进展

与moyamoya病相比,moyamoya综合征尚未形成典型的异常血管网,moyamoya综合征中颅内 动脉狭窄可能是moyamoya病的一个亚型或早期表现,且与moyamoya病存在相同的病理生理学机制。甲 状腺功能亢进相关的moyamoya综合征的病理生理学机制包括自身免疫性破坏、血流动力学异常、动脉 粥样硬化及交感神经兴奋性增加等,诊断和治疗上,应密切关注甲状腺素水平的变化。本文对甲状腺 功能亢进相关的moyamoya综合征的病理生理学机制及临床诊断治疗中应注意的问题做一综述。     

Complications in paediatric craniopharyngioma treatment

Forty-eight consecutive children treated for craniopharyngioma at the Juan P. Garrahan National Paediatric Hospital (Buenos Aires, Argentina) from 1988 to 1994 are described. Complications of patients undergoing total resection alone and those undergoing subtotal or partial resection plus radiotherapy were compared. Survival time and quality of life proved more satisfactory in the former group, as there were no recurrences. In contrast, among the latter patients, 53% suffered relapses. Endocrinological complications were similar in the two groups. Postsurgical subdural haematomas were quite frequent and eight patients required treatment for intracranial hypertension. Vascular complications, though less common, led to high morbidity and mortality. There was a considerable incidence of shunt malfunction (80%), arguing against placement of a preoperative shunt, which tended besides to foster postsurgical subdural haematomas.     

Moyamoya syndrome associated with sickle cell trait in a child

Moyamoya syndrome is a chronic, progressive occlussion of cerebrovascular arteries that leads to the development of characteristic collateral vessels. It is usually accompanied with sickle cell disease and other hemoglobinopathies. We report a 7-year-old boy, who admitted to our clinic with headache, diagnosed as moyamoya syndrome associated with sickle cell trait. To date, two such cases have been reported in the literature. As far as we know, this patient is the first child reported.     

Radiation-induced moyamoya disease after childhood astrocytoma

Adjunctive radiation treatment of childhood intracranial neoplasms of grade II or higher creates a risk of subsequent vasculopathy. A 28-year-old male presented with a Glasgow Coma Scale 12 after acute collapse and hemiparesis with an intraparenchymal haematoma. Emergent craniotomy, histopathology and subsequent imaging confirmed the cause as radiation-induced moyamoya disease, subsequent to treatment for a grade 2 astrocytoma 24 years previously. He had been lost to follow-up after normal serial imaging performed up to 10 years after his initial diagnosis. Long term surveillance imaging may be of benefit in identifying treatable vascular anomalies.     

Long-term results of treatment for craniopharyngioma in children

Results of the treatment of 27 children with craniopharyngioma are reported. A subfrontal pterional approach was used in 55.6% of cases, a transsphenoidal and a transcallosal or transcortical approach in 25.9% and 18.5% of cases, respectively. Radical removal was the goal of surgery and was achieved in 70.8% of cases treated as primary surgery. The operative mortality was 3.7% and was due to hypothalamic failure. Most (81.4%) patients were followed up, for a mean of 7 years. Patients were evaluated according to a functional evaluation scale and outcome categories proposed by us. The scale takes account of tumor (recurrences and their eventual evolution); visual functions; endocrine functions (mainly hypothalamic), attainment of endocrine balance and drug regimen; headache; and psychosocial function. Recurrences were observed in 17.6% of patients treated with radical surgery and in 42.8% of those treated with limited surgery plus radiotherapy. A progressive amelioration of visual, endocrine and neuropsychosocial functions from the intervention to follow-up was observed in the majority of patients. Complete tumor excision was associated in 85% of cases with a low score on the functional scale, reflecting a high functional performance. Adequate substitution therapy maintained endocrine balance in 81% of patients. Since the intervention a progressive decrease in the number and dosages of medications has been observed. The majority of patients were again able to lead a normal social life. Small stature, obesity, headache, and emotional and sexual disturbances were frequent cause of long-term disability even despite adequate drug regimens. The functional evaluation scale we propose is a simple and effective tool that can be easily used during routine evaluation of patients with craniopharyngioma. Received: 26 February 1997     

Individualized treatment of craniopharyngioma in children: ways and means

Background Medium- and long-term prognosis of craniopharyngioma is overwhelmed by the risks of hypothalamic and visual impairment. This problem has been underestimated for a long time because the major concern for the neurosurgeon was the risk of recurrences, their best prevention being thought to be complete tumour resection. Today, we know that radical surgery not only is not an absolute guarantee against recurrences but also can cause hypothalamic and visual complications.Methods The authors suggest that instead of complete removal, the first choice treatment should be, when possible, a less aggressive, multistaged and personalized treatment. In this perspective they focus on other therapeutic methods: endocavity treatment of cysts with rhenium-186, triconformational radiotherapy, radiosurgery, and widespread use of the trans-sphenoidal approach.Conclusions These simple methods should reduce the risks of visual aggravation and metabolic syndrome.     

Moyamoya syndrome after cranial irradiation for bone marrow transplantation in a patient with acute leukemia

It is well known that radiation-induced vasculopathy and arteritis are two of the complications of whole brain radiation therapy. Moyamoya syndromes after cranial irradiation among patients with brain tumors were previously reported. However, we could find only three cases of prophylactic cranial irradiation for hematological disorders and no case of cranial irradiation before bone marrow transplantation in patients with acute leukemia. We recently treated a boy who developed moyamoya vessels 1.5 years after cranial irradiation for bone marrow transplantation for acute leukemia. This is the first report of moyamoya syndrome after cranial irradiation for bone marrow transplantation. The mechanism and incidence of vasculopathy after cranial irradiation are unclear. It would be useful to accumulate data and reveal the etiology of moyamoya vessels formation after cranial irradiation.     

Arterio-embolic ischemic stroke in children with moyamoya disease

Introduction Moyamoya (MM) disease is a rare steno-occlusive cerebrovascular disease known to occur in children and adults. The most serious complications in children are developmental delay and mental retardation due to recurrent hemodynamic stroke. Cases We report two pediatric patients without coagulopathy who suffered from severe arterio-embolic ischemic complications despite antiplatelet medication. Discussion These observations underline the potential impact of cerebral thromboembolism on the pathophysiology of the stroke and thus on the treatment of children with MM disease.     

甲状腺功能亢进症合并烟雾综合征

目的 分析和探讨经颅多普勒超声（TCD）筛查的甲状腺功能亢进症（甲亢）合并烟雾综合征的临床和 血管病变特征。 方法 总结北京协和医院和解放军307医院2000～2007年经TCD筛查诊断烟雾综合征患者13例，8例经 磁共振血管成像（MRA）、5例经数字减影血管造影（DSA）明确诊断；所有患者经协和医院内分泌科确 诊为甲亢，且甲状腺球蛋白抗体（TGAb）和髓过氧化物酶抗体（TPOAb）高，除外血管狭窄的其他常见 原因。 结果 13例患者中，男1例，女12例；11例表现为缺血性卒中（2例合并不自主运动），1例仅表现为不自 主运动，1例以头晕为临床主诉，后2例经TCD筛查发现血管狭窄。血管病变分布：11例为典型的颈内动脉 终末端（TICA）、大脑中动脉（MCA）、大脑前动脉（ACA）狭窄或闭塞，1例为颈内动脉虹吸段狭窄，1例 为双侧颈内动脉起始严重狭窄或闭塞。2例患者同时合并大脑后动脉（PCA）狭窄。随访发现，1例患者因 甲亢控制不佳复查TCD血管病变加重；而1例甲状腺功能稳定，缺血临床症状明显改善。4例患者行颞浅 动脉－大脑中动脉（MCA）血管融通术，术后缺血发作减少。 结论 TCD的临床应用使越来越多的甲亢合并烟雾综合征得以诊断；烟雾综合征患者常规行甲状腺 功能筛查十分必要；血管成形术可能是预防缺血性卒中的有效方法之一。     

Results of the management of craniopharyngioma in children

The treatment results of 21 (1972–1982) patients with craniopharyngioma are reported who were treated either by surgery alone or by surgery and radiation therapy. The authors reviewed 14 patients (67%) who were less than 18 years of age at the time of surgery. The eradication was thought to be total in 7 children and subtotal in 7. Radiation was given as part of the initial therapy to 5 children after total excision and to 3 after subtotal removal. There were 2 postoperative deaths. All of the children suffered postoperative hormonal deficiencies. The results of this study indicate that total and subtotal removal followed by RT is an acceptable treatment for craniopharyngioma. Endocrine-deficient children, if treated properly, do well in terms of survival.     

Ⅰ型神经纤维瘤病合并烟雾综合征的临床表现及治疗预后

【摘要】
目的 初步探讨Ⅰ型神经纤维瘤病（neurofibromatosis type Ⅰ,NFⅠ）合并烟雾综合征（moyamoya syndrome,MMS）患者的临床表现、影像学特征及治疗预后。
方法 连续收集中国人民解放军第307医院神经外科2003年1月～2012年3月收治的NFⅠ-MMS患者,对其首发症状、首发年龄,血管病变的铃木分期等影像学特征、治疗方式,随访期内症状进展情况等进行分析。
结果 共收集4例患者,男女性别比为1∶3,症状首发年龄3例在18岁以下,1例为23岁。首发症状中,2例表现为短暂性脑缺血发作（transient ischemic attack,TIA）,1例表现为头痛,1例表现为脑梗死。4例患者的6侧病变铃木分期分别为,1期2侧,2期1侧,4期2侧,6期1侧。3例患者行血管重建手术,1例未行手术治疗,随访时间最短为10个月,最长为72个月,随访期内3例手术患者症状改善明显。
结论 NFⅠ-MMS大多好发于儿童时期,首发症状以脑缺血症状为主,血管病变程度可表现为铃木分期的各个阶段,血管重建手术可能对改善临床症状有帮助,有助于改善患者预后。     

Efficacy of Direct Revascularization Surgery for Hemorrhagic Moyamoya Syndrome As a Late Complication of Cranial Irradiation for Childhood Craniopharyngioma

Moyamoya syndrome (MMS) is an uncommon late complication after cranial irradiation. Its hemorrhagic presentation from the associated pseudo-aneurysm is extremely rare, and the optimal management strategy is undetermined. We herein report a 36-year-old man who developed intraventricular hemorrhage from a pseudo-aneurysm at the extended left anterior choroidal artery as an abnormal collateral of MMS 30 years after surgical removal and cranial irradiation for childhood craniopharyngioma. Catheter angiography confirmed the diagnosis of MMS, and multiple pseudo-aneurysms were evident at the ipsilateral abnormal choroidal collateral, one of which was considered to be a source of bleeding. The patient underwent left superficial temporal artery (STA)-middle cerebral artery (MCA) anastomosis with indirect pial synangiosis based on the observation that the development of choroidal collateral may be associated with a high rebleeding risk in hemorrhagic moyamoya disease. The patient was discharged without neurological deficit, and postoperative magnetic resonance angiography confirmed the STA-MCA bypass to be patent. Catheter angiography 1 year after revascularization surgery revealed the complete disappearance of the pseudoaneurysms with the apparently patent STA-MCA bypass. The patient did not exhibit any cerebrovascular events during the follow-up period of 16 months. In conclusion, hemorrhagic MMS with choroidal collateral as a dangerous anastomosis was effectively managed by STA-MCA anastomosis. Although long-term follow-up is necessary to evaluate our strategy, the favorable disappearance of pseudoaneurysms after revascularization surgery in the present case strongly suggests that STA-MCA anastomosis has a potential role for preventing rebleeding in MMS after cranial irradiation.     

An adult HIV patient with unilateral Moyamoya syndrome

Moyamoya disease is a rare idiopathic neurological disorder due to occlusion of the circle of Willis. “Moyamoya syndrome”, a radiographic picture resembling Moyamoya disease, is associated with systemic diseases. Only two cases of moyamoya syndrome in adults with advanced HIV disease and a single case in a child have been reported until now. We describe a case of unilateral Moyamoya syndrome in a patient with well-controlled HIV infection.     

儿童颅咽管瘤围手术期内分泌和水电解质紊乱的临床研究

目的探讨儿童颅咽管瘤手术前后内分泌和水电解质代谢紊乱的变化规律和处理要点。方法对手术前后同时存在内分泌和水钠失衡的17例儿童颅咽管瘤进行显微手术治疗。手术前后每日监测血电解质、尿量和24h尿钠；入院时和术后3d检测生长激素（GH）、甲状腺激素（T3、T4）、性激素、皮质醇及抗利尿激素，对手术前后的变化进行对比分析并作针对性治疗。结果手术前后均易发生生长激素、皮质醇和性激素缺乏，以及尿崩症和低钠血症，但二者之间无必然联系；术后内分泌障碍发生几率较术前少，而水电解质代谢紊乱较术前重；手术前后生长激素、甲状腺激素、性激素、皮质醇和24h尿钠的测定结果比较差异无统计学意义（P〉0．05）；而手术前后血浆抗利尿激素（ADH）水平和血浆渗透压比较差异有统计学意义（P〈0．05）。内分泌和水电解质代谢紊乱的类型和程度与肿瘤侵犯的部位、脑积水和手术损伤下丘脑-垂体柄等有关。术后高钠血症和尿崩症各死亡1例。结论内分泌和水电解质代谢紊乱是儿童颅咽管瘤围手术期常见并发症，对其正确诊断及积极治疗能提高手术疗效。