延髓梗死继发Ondine's curse综合征2例报道及文献复习

延髓血供丰富,侧支循环较多,临床上延髓梗死患者少见,仅占脑干梗死的7%左右.但延髓梗死临床表现复杂多变,尤其是弥散加权成像(diffusion weighted imaging,DWI)阴性者,临床很难鉴别.此外,延髓梗死后继发Ondine's curse综合征,死亡率高,预后差.因此,对延髓梗死后易继发中枢性睡眠呼吸暂停的患者早期识别、诊断及防治尤为重要.现报告两例延髓梗死后继发Ondine's curse综合征如下,以期能为该病的临床诊断及治疗提供帮助.     

Crossed cheiro-oral syndrome: A warning sign for medullary involvement and neurological deterioration

Crossed cheiro-oral syndrome (CCOS) is characterized by crossed sensory disturbance confined to the unilateral perioral area and contralateral hand/finger(s). Although a few classical crossed sensory syndromes accurately predict brainstem or spinal involvement, the clinical significance of CCOS remains unclear. In this study, we analyzed the etiology, localization and outcome of CCOS patients. The results showed that ischemic stroke is the exclusive cause of CCOS. The location of responsible stroke is pertinent to the middle or upper level of the lateral medulla oblongata medial to the lateral sulcus. The vascular supply is from the vertebral artery or the posterior inferior cerebellar artery. Half of the CCOS patients progressed to Wallenberg’s syndrome and complicated with disabled daily living. However, no patient died during the follow-up period. A larger size and dorsal extension of the infarction correlated with neurological deterioration. Therefore, CCOS is an independent clinical sign of medullary involvement. It strongly predicts involvement at the lateral medulla oblongata, especially the ischemic stroke, and neurological deterioration. A rapid evaluation of the infarction location and vascular status is suggested in cases of CCOS.     

Spectrum of medial medullary infarction: clinical and magnetic resonance imaging findings

Among 4200 consecutive patients admitted to three hospitals with acute ischemic stroke, we found only 11 patients in whom magnetic resonance imaging (MRI) had proved that they had medial medullary infarction (MMI). In our centers, patients with MMI were less than 1 % of those with vertebrobasilar stroke. The infarcts documented by MRI were unilateral in 10 patients and bilateral in one. On clinico-topographical analysis there were four clinical patterns: (1) Classical Dejerine's syndrome was the most frequent, consisting of contralateral hemiparesis, lemniscal sensory loss and ipsilateral lingual palsy in 7 of the eleven patients. (2) Pure hemiparesis was present in 2 patients; (3) Sensorimotor stroke was present in 1 patient with contralateral hemiparesis, hypesthesia and mild decrease in pain sensation without lingual palsy; (4) Bilateral MMI syndrome in 1 patient, accompanied by tetraparesis, bilateral loss of deep sensation, dysphagia, dysphonia and anarthria. Presumed causes of MMI were intrinsic branch penetrator artery disease with concomitant vertebral artery stenosis in 6 of the 11 patients, vertebral artery occlusion in 2, dolichoectatic vertebrobasilar arteries in 2, a source of cardiac embolism in 1. Prognosis at 3 months was favorable in 8 patients, but the patient with bilateral MMI syndrome had persisting motor deficit causing limitation of daily activities, and 2 died from systemic causes. The classical triad of acute MMI facilitates the diagnosis, although the recognition of this syndrome in patients with incomplete manifestations can be difficult and occurs more frequently than commonly thought. Moreover, vertebral artery atherosclerosis and branch atheromatous disease of the penetrating arteries are the main causes of medullary infarction. Received: 21 February 2001, Received in revised form: 22 February 2001, Accepted: 17 May 2001     

延髓背外侧梗死的感觉障碍特点及解剖学机制研究(附2例报告)

目的探讨延髓背外侧梗死(LMI)的感觉障碍特点及内在解剖学机制。方法总结2例伴不典型偏身感觉异常的LMI患者的临床及影像学资料,并复习相关文献。结果 2例LMI患者的临床表现均不典型,主要表现为头晕、偏身感觉异常。例1表现为病灶同侧面部及同侧肢体感觉异常(ISSL),主观描述为麻木、发紧,例2表现为病灶对侧肢体痛温觉减退、同侧肢体无力,还合并对侧肢体迟发性感觉异常(先表现为发凉,后出现上肢近端烧灼感)。2例患者DWI上梗死灶分别位于延髓背外侧、外侧。病因考虑为动脉粥样硬化,且合并椎动脉或其分支动脉发育异常。结论 LMI的感觉障碍复杂多样,不典型的有面部感觉异常、ISSL、对侧肢体迟发性感觉异常等,考虑与三叉丘系、内侧丘系、脊髓丘系受累有关。     

以反复脑梗死为首发症状的POEMS综合征1例报告并文献复习

目的探讨POEMS综合征伴发脑梗死的临床特点。方法报道1例合并反复脑梗死的POEMS综合征病例,结合国内外文献对POEMS综合征合并脑梗死的临床表现、发病机制及治疗予以分析总结。结果 POEMS综合征伴发的脑梗死好发于中年人群,常在周围神经病变起病20 m后发生。以偏瘫为最常见的首发表现,梗死灶以大脑中动脉支配区为主,50%的患者存在颅内血管异常。骨髓浆细胞增殖与血小板增多可能参与脑梗死的发生,积极治疗原发病可降低脑梗死的复发率。结论 POEMS综合征是脑梗死的少见病因,原发病的治疗是预防脑梗死复发的重要手段。     

Hemihydranencephaly syndrome: Case report and review

Background: Hemihydranencephaly (HHDNC) is a rare disorder with complete or almost complete unilateral absence of cerebral cortex.

Methods: This study describes a 27 months-old girl presenting with developmental delay and generalized weakness more on the left side. Bilateral blindness was noted since the age of 6 months.

Results: Her fundus examination revealed bilateral optic atrophy, dilated tortuous retinal veins with increased intra-ocular tension. She had polyuria and recurrent attacks of dehydration due to neurogenic diabetes insipidus. Her blood protein S was deficient. Her magnetic resonance imaging (MRI) demonstrated HHDNC with nearly complete absence of the right cerebral hemisphere. Her MR-Arteriography demonstrated total occlusion of right middle and anterior cerebral arteries and attenuated and beaded right posterior cerebral artery. Diffusion tensor MR imaging revealed complete absence of right cortico-spinal and optic tracts with deficient left sided tracts.

Conclusion: In contrast to the good outcome of the few reported cases of HHDNC, this case had severe global disabilities.     

急性脑桥梗死继发不宁腿综合征4例报道并文献复习

目的 探讨急性脑桥梗死继发不宁腿综合征(RLS)的临床表现、发病机制、诊断及治疗。方法 回顾性分析4例脑桥梗死继发RLS患者的临床资料,分析临床表现和治疗过程,总结临床特征并进行文献复习。结果 4例患者均急性起病,有神经功能缺损的体征,明确诊断为急性脑桥梗死,在脑桥梗死后0～3 d出现单侧或双侧肢体不适感,需活动肢体以减轻不适,其中3例予吡贝地尔缓释片口服后肢体不适症状消失。结论 脑桥梗死是继发性RLS的非常见病因,易漏诊,其发病机制有待于进一步研究,钙通道α2δ配体和多巴胺受体激动剂是一线治疗方案,该病早期诊治预后良好。     

急性心肌梗塞继发脑梗塞——(附5例尸检报告)

报告经尸检证实的急性心肌梗塞(AMI)继发脑梗塞(CI)5例。CI灶位于大脑中动脉区4例(左3、右1),前动脉区1例;新鲜与陈旧心梗并存4例,心脏动脉瘤、左室内附壁血栓(MT)、二尖辨狭窄各2例;心主动脉、脑基底动脉及大脑中动脉粥样硬化Ⅲ～Ⅳ度5例。与同期AMI尸检无CI13例心脑病理临床资料作比较,认为CI发生除心源性脑栓塞外,低血压、脑动脉粥样硬化也是重要因素,提出AMI早期应用抗凝治疗、及时纠正心衰和低血压,避免MT的形成与脱落是防治CI发生的重要措施。     

Solitary fibrous tumour with intramedullary component: Case report and review of the literature

Solitary fibrous tumours (SFTs) are rare WHO grade I mesenchymal neoplasms that were first described in the visceral pleura. A wide variety of locations of SFT have been reported but only twelve cases of intramedullary solitary fibrous tumour. We report a case of thoracic spinal cord SFT.A 49-year-old woman presented with clinical signs of dorsal myelopathy. Magnetic resonance imaging revealed an intradural mass at level T9–T10 which showed imaging features consistent both for an intra- and an extramedullary location of a solid tumour. Imaging findings were confirmed during surgery which was successful in resecting the extramedullary component. The intramedullary component could only be partially resected.Solitary fibrous tumour is a rare pathological entity in the central nervous system. The course of intramedullary SFT is unknown and careful long-term follow-up is recommended.     

Lipoastrocytoma: A rare case report and review of literature

Lipoastrocytoma is an extremely rare tumor, with only a few cases described. We report a case of a low‐grade astrocytoma occupying the right cortical lobe in the parafalcine location. The patient was admitted with headache, vomiting and altered sensorium for duration of 1 year. MRI revealed a large heterogeneous enhancing mass in the right fronto‐parieto‐temporal lobe with intratumoral fat along with cystic changes and calcification (correlated with CT) showing mass effect in the third ventricle. A gross total excision of the tumor was performed. Histologically, the tumor showed glial cells that contained lipid droplets coalescing into a single large droplet, similar in appeareance to adipocytes. Immunohistocemically, tumor cells strongly expressed GFAP and S‐100 protein. Ki‐67 labelling index was low. The patient remained in good neurological condition at 3 months follow‐up. This case represents a rare variant of low‐grade astrocytoma that is designated as lipoastrocytoma.     

Wallenberg's lateral medullary syndrome with loss of pain and temperature sensation on the contralateral face: clinical,MRI and electrophysiological studies

Thirteen patients with Wallenberg's lateral medullary syndrome (WLMS) were studied. Clinical and magnetic resonance imaging (MRI) evidence demonstrated infarction in the dorsolateral medulla which produced loss of pain and temperature sensation on one side of the face ipsilateral to the lesion in seven patients. However, in another six patients, the infarction in a similar location produced the same sensory loss on the contralateral face. This is the first report of an analysis comparing these two conditions in WLMS patients, confirmed by MRI. The finding of normal blink reflex and somatosensory evoked potentials (stimulation on median nerve) in the two groups of patients may indicate that the impulses travel along the central pathways of touch, vibration and joint position sensation instead of the pathways for pain and temperature, because the patients had normal sensation of touch, vibration and joint position but impairment of pain and temperature sensation. In addition, it is suggested that the pathways of late blink reflex (R2) pass through the medial lemniscus in the ventromedial medulla instead of the spinal trigeminal tract in the dorsolateral medulla. Further, the observation of the much longer lantencies (about 29 ms) of the normal R2 raises the possibility that the impulses may travel along the longer pathways through the opposite medial lemniscus and up to the thalamus or cortex where they project to bilateral motoneurons of the orbicularis oculi muscles. Although the alternative of R2 travelling only by the shorter pathways through the brain stem is not excluded, this is not supported by current data.     

Insular infarction in subdural hematoma: A case series and pathophysiologic review

Subdural hematoma (SDH) is among the most common conditions managed by neurologists and neurosurgeons. As SDH incidence rates increase, a wider spectrum of SDH related complications have become evident. We prospectively identified a series of three patients with similar patterns of ipsilateral insular diffusion weighted imaging (DWI) hyperintensity associated with subdural hematoma. Detailed chart review was performed, and cases are described in relation to anatomy and proposed pathophysiology of venous hypertension and arterial vasospasm. The DWI changes were evident in all cases where clinical deficits following SDH evacuation were out of proportion to computed tomography findings. Therefore SDH-associated insular infarction may be a marker of greater disease severity, and further study of management and outcomes is needed.     

Andersen-Tawil 综合征1例报告并文献复习

目的探讨Andersen-Tawil综合征(ATS)的发病机制及临床特点。方法回顾性分析1例ATS患者的临床表型。结果本例患者男,17岁,表现为低位耳,反复发作运动、饱食或无明显诱因下非对称性肌无力,入院期间肌无力发作时伴血钾降低;动态ECG提示频发室性期前收缩;EMG检查显示复合肌肉动作电位波幅在运动诱发试验运动后即刻上升6%,30 min下降17%,60min下降25%,90min下降35%;头颅MRI Flair示左侧额顶叶交界区脑白质内点状高信号影;基因检测(NGS)提示染色体17q24的KCNJ2基因出现错义突变:c.224C>T(p.Thr75Met),诊断为ATS。予补钾治疗后患者肌力恢复正常,出院后继续服用醋钾唑胺片,随访发现患者周期性麻痹的发作频率、严重程度及持续时间明显改善。结论 ATS作为一个多系统累积的离子通道病,其临床表现高度变异,临床上要更加关注患者临床表型,从而有利于表型及机制的完善。     

Lipid myopathy: Case report and review

The past decade has seen an increasing number of reports of patients suffering from disorders of lipid with major abnormalities of the neuromuscular system. On the basis of these reports it has been suggested that carnitine deficiency can be subdivided into a myopathic form where the deficiency is confined to muscle and a systemic form where there is more wide-spread carnitine depletion. Recent evidence based on clinical and experimental material casts doubt on this rigid subdivision. It is suggested that patients with carnitine deficiency should not be rigorously subdivided until further clarification of the underlying biochemical abnormalities have been undertaken.     

Multimodality MRI and MRA for Decision Making in Minor Stroke: A Case with Internal Carotid and Distal Middle Cerebral Artery Occlusion

We report the case of a 65‐year‐old man who presented with mild, rapidly improving stroke symptoms. Acute magnetic resonance imaging disclosed no diffusion abnormalities but a tandem internal carotid artery/distal middle cerebral artery occlusion associated with a large corresponding deficit on perfusion imaging. In addition, there was a cross‐flow to the middle cerebral artery via the anterior communicating artery. Therefore, intravenous thrombolysis was initiated that led to rapid reopening of the middle cerebral artery and left the patient free of symptoms. Our observation highlights the possible benefit of systemic thrombolytic treatment even in the setting of an internal carotid artery occlusion and the substantial contribution of multimodal magnetic resonance imaging for a risk‐benefit estimate.