Clinical aspects of progressive supranuclear palsy

Thirteen cases histologically proven as progressive supranuclear palsy (PSP) and 16 clinical cases were evaluated to help understand the clinical spectrum of symptoms, signs and clinical courses, and for differential diagnosis of corticobasal degeneration, Pick's disease and other neurodegenerative diseases. There was no case that was correctly diagnosed at the onset of the illness. Although the clinical courses and symptoms were uniform and typical of ordinary cases, fundamental symptoms such as ophthalmoplegia and nuchal dystonia were not observed in all cases. Some cases revealed a periodic stuporous state, and there was no symptom suggesting cerebral cortical lesions in any of the 29 cases. The clinical characteristics of PSP are discussed, with reference made to recent literatures.     

变异型Guillain-Barre综合征的临床特点

目的探讨变异型Guillain-Barre综合征(GBS)的临床特点。方法回顾性分析14例变异型GBS患者的临床资料。结果本组10例为女性,4例为男性;均为急性或亚急性起病,病前11例有相关诱因;临床表现为多脑神经型、急性运动轴索型、Miller-Fish综合征及全自主神经功能障碍型。12例行腰椎穿刺术,11例脑脊液蛋白增高;11例行肌电图检查,9例提示为周围神经源性损害;经个体化治疗所有患者的症状均有改善。结论变异型GBS类型及临床表现多样,以女性患者多见;脑脊液蛋白-细胞分离及肌电图检查为周围神经源性损害有助于诊断。     

垂体卒中的临床与磁共振特征

目的:探讨垂体卒中的临床和MRI特征。方法:分析13例垂体卒中患者的临床和头MRI资料。结果:76.9%的患者卒中前无垂体瘤表现,84.6%的患者发病前无明显诱因。典型临床表现为头痛、呕吐及视力障碍等。MRI检查发现,瘤内出血8例,表现为T1WI等信号合并高信号,T2WI像为高信号;肿瘤内坏死3例,表现为T1WI低信号,T2WI高信号;出血合并坏死2例,表现为T1WI高低混杂信号,T2WI高信号。结论:垂体卒中临床表现多样,易漏诊误诊。MRI检查结合临床,对诊断和选择治疗方案有重要价值。     

Sporadic acrodystrophic neuropathy

Fourteen cases of sporadic acrodystrophic neuropathy are reported. All patients were males, chronic alcoholics, and had no family history of similar disease. The clinical picture was similar in all cases and the clinical, EMG and pathological examinations suggested a primary peripheral nerve lesion.The differences between the cases reported and those grouped under the name of Thévenard's disease (primary acrodystrophic neuropathy) are stressed. It is suggested that the clinical picture in these patients was produced by an alcoholic polyneuropathy.     

鞍上池血肿31例临床分析

目的 研究鞍上池血肿的临床特征。方法 对31例首次头颅CT所见符合典型鞍上池血肿患者的临床表现、神经影像学、并发症及预后等资料进行分析。结果 本组患者表现头痛30例(96．8％)，呕吐22例(71．0％)，—过性意识障碍3例(9．7％)，昏迷2例(6．5％)，脑膜刺激征阳性26例(83．9％)，有局灶神经障碍3例(9．7％)，28例(90．3％)全脑血管造影为阴性，病程中无内科及神经系统并发症发生，痊愈出院。结论 鞍上池血肿患者临床表现如一般蛛网膜下腔出血的症状和体征，与动脉瘤破裂所致蛛网膜下腔出血有明显区别，病情相对较轻，并发症少，预后良好，恢复期短，全脑血管造影绝大部分阴性。此型病例大多数适合内科保守治疗。     

颅内海绵状血管瘤的临床特征与显微外科治疗

目的 探讨颅内海绵状血管瘤的临床特征、影像学特点和显微外科手术治疗方法.方法总结分析广州医学院第二附属医院神经外科自1998年1月至2008年6月收治的189例颅内海绵状血管瘤患者的临床表现、神经影像学特征及显微外科手术治疗方法等资料. 结果 183例颅内海绵状血管瘤位于脑实质内,以头痛、癫痫及出血为主要临床表现,均全切除病灶;6例位于脑外中颅窝底区,其中全切除病灶5例,病灶活检1例. 结论 显微外科手术治疗颅内海绵状血管瘤是一种安全和有效的方法,其疗效满意.     

颅脑损伤后透明隔囊肿形成及治疗

目的探讨颅脑损伤后透明隔囊肿的形成及其治疗。方法分析20例颅脑损伤后透明隔囊舯的临床表现及治疗。结果根据临床征象及影像学检查，透明隔囊肿分为四种类型，手术治疗12例，保守治疗8例，效果满意。结论颅脑损伤后透明隔囊肿的临床表现与囊肿大小有关；治疗应根据不同类犁采用不同的治疗方法。     

特发性基底节钙化的临床分析

目的探讨特发性基底节钙化的临床特点与头部CT表现,防止漏诊及误诊。方法分析24例特发性基底节钙化的临床特点与头部CT的表现。结果(1)24例病例均为散发;(2)临床表现主要为癫癎发作、锥体外系症状、进行性痴呆、头昏、失眠等,亦可无临床表现,血清钙、磷均正常;(3)头颅CT主要表现为对称性双侧基底节钙化。结论特发性基底节钙化的临床表现无特异性。在排除其它可引起基底节钙化的相关疾病的基础上,头颅CT及实验室检查对本病诊断有重要意义,尤其对无症状者更有意义。     

Difficult decision-making in major depressive disorder: Practical guidance based on clinical research and experience

Objectives

To extend current published guidance regarding the management of major depression in clinical practice, by examining complex cases that reflect real-world patients, and to integrate evidence and experience into recommendations.

Methods

The authors who contributed to recently published clinical practice guidelines were invited to identify important gaps in extant guidance. Drawing on clinical experience and shared knowledge, they then generated four fictional case studies to illustrate the real-world complexities of managing mood disorders. The cases focussed specifically on issues that are not usually addressed in clinical practice guidelines.

Results

The four cases are discussed in detail and each case is summarised using a life chart and accompanying information. The four cases reflect important real-world challenges that clinicians face when managing mood disorders in day-to-day clinical practice. To partly standardise the presentation of each case and for ease of reference we provide a Time Line, History Box and Management Chart, along with a synopsis where relevant. Discussion and formulation of the cases illustrate how to manage the complexities of each case and provide one possible pathway to achieving functional recovery.

Conclusion

These cases draw on the combined clinical experience of the authors and illustrate how to approach diagnostic decision-making when treating major depressive disorder and having to contend with complex presentations. The cases are designed to stimulate discussion and provide a real-world context for the formulation of mood disorders.     

Creutzfeldt-Jakob病的临床和影像学特点

目的探讨Creutzfeldt-Jakob病(CJD)的临床及影像学特征。方法回顾性分析29例CJD患者的临床资料。结果本组有12例CJD患者以快速进展性痴呆起病;典型的临床表现为进行性痴呆(100%)、共济失调(93.1%)、肌阵挛(89.6%)。EEG均异常,出现典型三相波17例、不典型三相波8例。头颅MRI表现双侧皮质高信号或基底节区T2WI对称性高信号15例,单侧皮质高信号6例,单侧基底节区高信号4例;20例行MR弥散加权成像(DWI)扫描,双侧皮质或基底节区出现高信号14例,一侧皮质或基底节区高信号各3例。14例双侧DWI高信号的患者均出现EEG典型三相波。3例行脑脊液14-3-3蛋白检查,2例阳性。结论 CJD患者多以快速进展性认知功能障碍起病,典型的临床表现为痴呆、共济失调、肌阵挛;EEG、DWI、CSF 14-3-3检测是诊断CJD的重要检查手段;DWI双侧皮质及基底节高信号可能与EEG出现三相波有关。     

Symptoms and their pattern of progression in childhood moyamoya disease

In the series of 81 childhood moyamoya patients, the common pattern of clinical progression seen in 77 patients was revealed to be no more than four. The characteristics of each type of clinical progression were presented for a better understanding of the disease and for an initiation of early treatment of this rather rare and insidiously progressive disease. Type I (21 cases) and type II (15 cases) are cases without infarction, even in those types there are cases with poor IQ. Type III (17 cases) and type IV (24 cases) are cases with infarction and an early operation is mandatory. Types I and II are also good candidates for early operation, for IQ deterioration insidiously progress in these types and there is no way of knowing them from type III before infarctions occur. We now have effective surgical measures to improve the ischemic conditions of this disease.     

间质性肌炎的临床和病理特征

目的　总结间质性肌炎 ( interstitial myositis,IM)临床特点及病理特征 ,探讨 IM的诊断、治疗效果和预后。方法　综合分析作者医院 2 3例 IM的临床资料 ,并与 93例多发性肌炎、3 4例皮肌炎进行比较。结果　 IM临床表现以肌无力、肌肉疼痛、血清酶谱增高、肌电图及病理学异常为特征 ,治疗以激素为主。结论　病理学检查对 IM诊断及疗效判断有重要价值。     

Congenital fibre type disproportion with unusual clinico-pathologic manifestations.

Two cases with congenital fibre type disproportion are presented. The cases are unusual in that there were significant dysmorphic features in case 1, and both cases showed electromyographic abnormalities suggestive of denervation. A third case, the father of the second patient, showed clinical features of congenital fibre type disproportion in early life but later developed the rigid spine syndrome. The spinal cord of case 3 showed atrophy and degeneration of medial neuronal group in the lumbosacral segments. The clinical and pathological features in these cases further extend the view that congenital fibre type disproportion may be seen in a variety of patients.     

颅内静脉窦血栓形成的诊治(附9例报告)

目的探讨颅内静脉窦血栓形成(CVST)临床表现、诊断及治疗。方法回顾性分析9例经影像学诊断为CVST的患者,行抗凝及血管内介入溶栓治疗。结果9例患者均有颅内压增高表现;3例癫痫发作;2例颅内出血;2例出现意识障碍;1例偏瘫。头部CT、MRI、MRV、DSA为诊断提供依据。8例应用低分子肝素治疗,1例进行血管内介入尿激酶溶栓治疗,同时进行肝素抗凝治疗。治疗后9例患者中7例症状完全缓解,2例症状明显好转。随访6例患者半年至2年,疗效稳定,无1例复发。结论CVST患者多有颅内压增高表现,及时行MRI、MRV及DSA检查,以明确诊断。抗凝治疗为首选治疗方法,血管内介入溶栓治疗协同抗凝治疗可提高疗效。     

肾上腺脑白质营养不良的临床特点

目的探讨肾上腺脑白质营养不良(ALD)的临床特点。方法回顾性分析14例ALD患者的临床资料。结果本组14例ALD患者均为男童,起病年龄1～13岁,缓慢起病,临床上均有不同程度的智力障碍和肢体活动障碍,其中9例视力下降,6例听力下降,13例言语不清,5例有抽搐发作,6例皮肤色素沉着;5例血浆极长链脂肪酸(VLCFA)不同程度增高,2例头颅CT、12例头颅MRI显示双侧脑室三角区周围白质对称分布的蝶形病灶,3例增强扫描示部分病灶周围花边样强化条带。结论ALD临床特点为进行性智力及肢体运动障碍、视力及听力下降、肾上腺皮质功能减低、血浆VLCFA水平增高及特征性的头颅影像学改变。     

Vascular complications in dementia with Lewy bodies: A postmortem study

The effects of cerebrovascular lesions on DLB are not yet fully understood, whereas the development of Alzheimer’s disease (AD) is known to be associated with cerebrovascular lesions. In this study, we investigated the frequency of concomitant cerebrovascular pathologies in autopsy‐proven DLB cases (n = 25) in comparison with AD cases (n = 63). We also investigated the correlation between cerebrovascular pathologies and the clinical features of DLB cases. On gross inspection, five cases of DLB and seven cases of AD were complicated by cerebral hemorrhages and the difference was significant; most of the lesions in DLB were subdural hemorrhages, possibly related to trauma. Nine cases of DLB and 25 cases of AD had grossly identified infarctions, but no significant difference was observed. Three cases of DLB and four cases of AD had concomitant hemorrhages, while 10 cases of DLB and 43 cases of AD had infarcts on microscopic inspection. There was a significant difference in the frequency of microscopic infarcts between DLB and AD, whereas no significant difference was noted in the frequency of microscopic hemorrhages. In DLB cases without vascular complications, memory disturbance was common as the initial symptom, while parkinsonism was more common in those with vascular complications. However, no significant difference was observed between DLB cases with and without vascular complications with respect to the frequency of individual clinical symptoms over the whole clinical course. These findings suggest that grossly identified hemorrhages are more common in DLB because of trauma, while microinfarcts are less common in DLB than AD, although the reason remains unclear. Such vascular complications might affect the clinical manifestations, in particular, the initial symptom, of DLB.     

误诊为单纯疱疹病毒性脑炎的MELAS综合征8例临床分析

目的分析误诊为单纯疱疹病毒性脑炎(HSE)的8例线粒体脑肌病伴乳酸血症和卒中样发作(MELAS)综合征的临床特征。方法回顾性分析8例误诊为HSE的MELAS综合征患者的临床资料。结果患者主要表现为反复发热,逐渐进展的智能低下、抽搐发作、头痛、视力下降、听力下降、肢体无力等,其中发热为8例患者的共同临床表现;乳酸运动耐量试验均为阳性;影像学检查可见各脑叶及基底节区受累,表现为典型的层状坏死,部分病例可见脑萎缩;脑电图检查主要表现为弥漫性慢波;肌电图检查除1例为肌源性损害外均为正常;肌肉活检均见破碎红纤维(RRF),异常线粒体增多。结论MELAS综合征和HSE有着相似的临床表现,但脑电图和影像学表现与HSE有明显不同;确诊需要乳酸运动耐量试验及肌肉活检。     

Neuronal ceroid lipofuscinosis: clinical and histochemical observations in 2 cases

Two cases of neuronal ceroid lipofuscinosis are presented with detailed accounts of the clinical, histopathological and histochemical changes in the brain. In one of them, neurochemical analysis of the brain was found to be essentially normal. Despite the pathological and histochemical similarity in these two cases, the clinical forms were quite distinct. The clinical patterns are attributed to differences in the topography of neuronal involvement. The pathogenesis of this extremely rare form of neurolipidosis is discussed with reference to recent literature.     

脑灰质异位症的MRI诊断

目的探讨脑灰质异位症影像学特征及与临床症状的关系。方法分析了36例经三名以上神经影像学医师诊断为脑灰质异位症病例。其中男性16例,女性20例,年龄在8个月～43岁,平均年龄中位值14.2±0.5岁。主要临床症状表现为癫疒间、智力低下、运动障碍。结果我们把灰质异位症分为5型:①室管膜下型(15例);②局灶性皮层下型(10例);③弥漫型(4例);④脑裂畸形型5例;⑤混合型(2例)。灰质异位症还常可并发其它的一些颅脑畸形。结论灰质异位症的诊断主要依据临床表现和影像学征象。不同类型的灰质异位症具有不同的临床表现。在诊断时应与其它病变进行鉴别。