20例儿童可逆性胼胝体压部病变综合征临床分析

目的探讨儿童轻微脑炎/脑病伴可逆性胼胝体压部病变综合征的病因及发病机制。方法回顾性分析2014-06—2016-06收治的20例轻微脑炎/脑病伴可逆性胼胝体压部病变综合征患儿的临床资料并进行总结分析。结果 20例患儿中男12例,女8例,主要病因为病毒感染及惊厥发作,头颅磁共振(MRI)显示胼胝体压部椭圆形病灶,临床表现无特异性,多轻微,预后好。结论儿童轻微脑炎/脑病伴可逆性胼胝体压部病变综合征临床症状轻微,头颅MRI表现具有特征性及可逆性,病因虽多,临床预后良好。     

原发性肌张力障碍相关基因的研究现状

<正>原发性肌张力障碍是一组病因不明的运动障碍性疾病,主要表现为主动肌和拮抗肌不协调收缩或过度收缩及扭转性的姿势和动作异常。1911年由德国神经学家Oppenheim命名了肌张力障碍,1997年Ozelius等[1]发现了肌张力障碍的第一个致病基因。目前大多认为该病是与很多神经退行性变和神经递质代谢紊乱相关的症状群。根据病因可分为原发性肌张力障碍、肌张力障碍叠加综合征、遗传性肌张力障碍及继发性     

Garcin综合征30例临床分析

目的 探讨Garcin综合征的病因、临床表现及诊断，提高对本病综合征病因的认识。方法 对30例本综合征患者的临床表现、头颅CT、MRI和病理资料进行分析。结果 发现鼻咽癌20例、听神经瘤6例、三叉神经瘤2例、转移瘤2例。颅神经以三叉神经损害最早出现，继依次为Ⅵ、Ⅷ、Ⅶ、Ⅸ、Ⅹ、Ⅺ，颅神经害均在一侧，为不完全型（部分颅神经损害）。曾误诊为血管性头痛、三叉神经痛、美尼矣病等。CT和MRI显示咽隐窝变浅或消失，局部软组织肿物，并侵犯咽旁间隙、翼内肌，均有不同程度颅底骨质破坏。结论 Garcin综合征多半由肿瘤等较严重疾病引起。早期易误诊为其他疾病，故早期确诊至关重要，对一侧颅神经损害者应高度警惕，排除此病的可能，头颅CT和MRI对其病因诊断具有独特的优势。     

基底动脉尖综合征17例诊治体会

目的探讨基底动脉尖综合征（TOBS）的发病机制、高危因素、临床特征、头颅磁共振表现,旨在提高对此病的认识。方法对我院2007-01—2011-12收治的17例基底动脉尖综合征的临床表现、头颅磁共振结果进行回顾性分析。结果 TOBS病人临床表现多样,症状重,神经系统定位广泛,病灶主要分布在双侧枕叶、双侧丘脑、双侧中脑、双侧小脑、双侧颞叶等部位,致残、致死率极高。高危因素有高血压、糖尿病、高血脂症、心房纤颤、吸烟、饮酒等。结论 TOBS起病急,进展快,症状重,预后差,病死率高,溶栓治疗时间窗可适当放宽,头颅MRI及MRA为主要检查手段。     

原发性脑室出血的诊断、病因及预后(附20例病例报告)

目的 :探讨原发性脑室出血 (PIVH)的诊断、病因和预后。方法 :回顾性分析 2 0例 PIVH患者的临床资料、辅助检查、治疗结果。结果 :2 0例中 19例经头颅 CT、 1例经 MRI检查证实为 PIVH,8例行脑血管造影检查 ,病因为脑动静脉畸形者 5例 (2 5 % ) ,脑动静脉畸形伴动脉瘤者 1例 (5 % ) ,Moyamoya病 1例 (5 % ) ,高血压者 5例 (5 5 % ) ,病因不明者 2例 (10 % )。 5例全脑室出血者全部存活 ,15例部分脑室出血者 3例发生再出血 ,其中 2例死亡。结论 :头颅CT可以确诊 PIVH,脑血管造影对于明确出血的病因很有帮助 ,PIVH的病死率与出血量之间关系不大 ,而与再出血之间关系密切     

伴黑质超声异常的副肿瘤性僵人综合征1例报道

目的探究僵人综合征发病临床表现、免疫学检查、神经电生理(肌电图、黑质超声)特点及治疗方法。方法分析1例僵人综合征患者,并整理其临床资料,同时对临床特点、辅助检查(腹部增强CT、肺部CT、肌电图、黑质超声、血清免疫学检查、血清副肿瘤性神经综合征11项)及治疗经过进行详细梳理。结果本病例临床表现为左下肢肌肉抽搐伴僵硬、疼痛感,肌肉僵直抽搐后伴无力感,共跌倒5~6次,同时伴颈脊旁肌、束脊肌、腹肌肌肉僵直,随之出现肌肉痛性痉挛,免疫学检查超敏C反应蛋白6.4 mg/L(0.1~5.0 mg/L),抗链球菌溶血素“O”36.7 IU/mL(0~200.0 IU/mL),红细胞沉降率40.0 mm/h(0~20.0 mm/h);血清副肿瘤性神经综合征11项:抗GAD65+;多肿瘤标志物11项:甲胎蛋白(AFP)>500 ng/mL(0~10.0 ng/mL)。超声提示黑质区回声Ⅱ级。肌电图:针电极提示静息状态下可见正常运动电位单元,被动运动后可见大量运动单位电位,给予地西泮注射后呈静息状态下运动单位电位发放减弱,给予劳拉西泮及巴氯芬治疗后临床症状改善。结论僵人综合征是中枢神经系统自身免疫性疾病引起的一种以下肢肌肉过度收缩和发作性躯干肌、颈脊旁肌、束脊肌及腹部肌肉强直伴疼痛,肌肉僵硬时明显影响患者主动运动为主要特征的临床罕见病。血清GAD65抗体阳性、肌电图显示肌强直,治疗首选药物为苯二氮类药物,还需联用GABA受体激动剂巴氯芬,效果最佳。合并副肿瘤综合征者需加用免疫抑制剂。     

轴性肌病的研究进展

轴性肌病是一组累及中轴肌的肌病总称, 主要指一组椎旁肌单独或显著受累的骨骼肌病, 伴或不伴有全身骨骼肌受累。中轴肌无力在临床上常被忽视, 目前文献对中轴肌受累的评价, 主要是针对椎旁肌(即竖脊肌)的评估, 椎旁肌无力临床表现为垂头综合征和躯干前屈征。体格检查和骨骼肌磁共振成像, 尤其是全身肌肉磁共振成像扫描对中轴肌的评估至关重要。重视轴性肌病的诊断与鉴别有助于避免遗漏可治疗疾病, 并可加强对相关肌病的理解和早期识别, 具有重要临床意义。     

MRI/~1H-MRS在MELAS综合征与卒中鉴别诊断中的应用研究

目的探讨线粒体脑肌病伴高乳酸血症及卒中样发作(MELAS)综合征头颅磁共振(MRI)及头颅磁共振波谱(~1H-MRS)特点与其早期诊断价值。方法对8例诊断为MELAS综合征患者的MRI及MRS结果进行分析。结果 8例MELAS综合征患者的头颅MRI结果示病变累及多个脑叶,主要包括额叶、颞叶、顶叶、枕叶皮质及双侧基底核、放射冠区,其中4例患者可见不同程度的脑萎缩;头颅磁共振血管造影(MRA)检测均未见颅内动脉异常,且病灶区域与主要供血动脉分布无明显相关性;4例患者头颅~1H-MRS可见病变区域显著Lac峰,以及病灶区NAA峰显著降低。结论头颅~1H-MRS能够为MELAS综合征患者提供无创性检查,分析脑组织能量代谢变化,对MELAS综合征的早期诊断具有重要价值。     

胸段脊旁肌肌电图在肌萎缩侧索硬化诊断中的作用

目的 研究胸段脊旁肌自发电位在诊断肌萎缩侧索硬化(amyotrophic lateral sclerosis，ALS)中的价值。方法 50例确诊的ALS患者分别行胸段脊旁肌自发电位、胸锁乳突肌运动单位，部分患者行舌肌自发电位检测；同时，将性别、年龄相匹配的30例根性损害的患者和30名健康人作为对照，行胸段脊旁肌自发电位检测。结果 50例ALS患者中，41例(82％)胸段脊旁肌肌电图可见大量纤颤电位和正锐波；胸锁乳突肌肌电图无一例见自发电位，但有48例(96%)运动单位时限增宽，波幅增高，符合慢性神经源性损害改变；6例患者行舌肌自发电位检测，3例可见自发电位。30例根性病变的患者中，2例(7％)可见胸段脊旁肌有少量自发电位；健康对照组未见胸段脊旁肌自发电位。结论 胸段脊旁肌大量自发电位对诊断ALS具有一定的敏感性。     

Isaacs综合征3例

Isaacs综合征又称持续性肌纤维兴奋综合征(syndyome of continuous muscle fibreactivity)或神经性肌强直(neruomyotonia)，是一种非常罕见的病因尚未明确的综合征。现将本院遇到的3例报告如下。     

Axial myopathy – an unrecognised entity

Axial myopathy (AM) is a rare neuromuscular disorder characterised by selective involvement of the spinal muscles with a bent spine and/or drooping head as leading clinical features. We here report the results of clinical, histopathological, MRI, molecular genetics and electrophysiological investigations carried out on six patients affected by pure axial myopathy. Symptoms appeared within an age range of 35 to 56 years. The first symptoms were difficulty in keeping the trunk and head in an upright position. Both bent spine and dropped head were reduced in a supine position. The disease was slowly progressive. Muscle strength examination and muscle imaging revealed involvement of the spinal and neck extensor muscles only. Serum CK was normal to slightly increased. EMG and muscle biopsy specimens obtained from spinal muscles showed an advanced chronic myopathic pattern. We conclude that axial myopathy may be much more common than previously thought, because gradual progression of cervical kyphosis may often be explained as a feature of normal ageing or as an associated sign of several neurological disorders and vertebral degeneration diseases. Received: 24 June 2001, Received in revised form: 2 November 2001, Accepted: 6 November 2001     

The dropped head plus syndrome: quantitation of response to corticosteroids

Severe neck extensor weakness causes the dropped head syndrome and is a disabling symptom of many specific disorders. When a diagnosis cannot be established, it has been considered a manifestation of a restricted noninflammatory myopathy. A 44‐year‐old man presenting with dropped head and subsequent severe limb weakness did not respond to a first trial of corticosteroids but responded well to a subsequent prolonged trial of azathioprine followed by prednisone. The decision to persist with the second trial of treatment was prompted by documented sequential increases in lean body and muscle mass, and an improvement in the quantitative myometry score which preceded clinically obvious improvement. While mechanical damage to overstretched cervical paraspinal muscles is thought to preclude a response to treatment, cases of unexplained dropped head syndrome may merit consideration of prolonged immunosuppressant treatment. © 1999 John Wiley & Sons, Inc. Muscle Nerve 22: 115–118, 1999     

Response of the dropped head/bent spine syndrome to treatment with intravenous immunoglobulin

Weakness of neck extension causing a dropped head may result from many neuromuscular disorders. One etiology is isolated neck extensor myopathy. A similar focal myopathy of the lower axial muscles may cause the bent spine syndrome, which manifests as flexion of the trunk and inability to stand upright. Combination of both dropped head and bent spine myopathies is uncommon. Inflammation is usually not pronounced in these conditions and response to immunosuppressive treatment is rare. We present an 81-year-old man who developed progressive weakness of neck and trunk extension over several months, with a prominent inflammatory process in the thoracic paraspinal muscles, which responded dramatically to treatment with intravenous immunoglobulin (IVIg). This case, together with other rare reports, suggests that the presence of inflammation in the biopsy of an affected muscle may predict treatment response.     

Adult-onset nemaline myopathy: Another cause of dropped head.

A 59-year-old man with severe neck extensor weakness had findings diagnostic of nemaline myopathy on muscle biopsy. Review of the literature shows that dropped head occurs in nearly half of the patients with adult-onset nemaline myopathy. Other leading causes of dropped head syndrome are amyotrophic lateral sclerosis, myasthenia gravis, and isolated neck extensor myopathy.     

Steroid-Responsive Encephalopathy,Dropped Head Syndrome,and Hypertension in a Toddler: Is There a Clue?

BackgroundParaneoplastic manifestations may provide an early clue to underlying malignancies in children.MethodsWe describe a 3-year-old girl with an unusual neurological paraneoplastic syndrome of steroid-responsive encephalopathy and dropped head syndrome associated with paraspinal neuroblastoma.ResultsCranial neuroimaging, metabolic screen, and thyroid functions were normal. Abdominal imaging identified a paraspinal neuroblastoma. Encephalopathy and neck extensor weakness responded to pulse corticosteroids followed by tumor resection.ConclusionsThis is a unique child with paraneoplastic steroid-responsive encephalopathy and dropped head syndrome in association with neuroblastoma.     

“Dropped head syndrome” caused by Lambert–Eaton myasthenic syndrome

A 67‐year‐old man was admitted with a 2‐year history of dropped head. Neurological examination revealed ptosis, dysarthria, neck weakness, hyporeflexia of all limbs, and autonomic failure. Electrophysiologic study showed a 400% increment response to high‐rate repetitive nerve stimulation. Serum anti‐P/Q‐voltage‐gated calcium channel antibody was positive, confirming the diagnosis of Lambert–Eaton myasthenic syndrome (LEMS). His symptoms and electrophysiological abnormalities improved with oral prednisolone following plasmapheresis. This is the first report of LEMS as a cause of dropped head syndrome. Muscle Nerve 40: 134–136, 2009     

Muscle restricted vasculitis causing dropped head syndrome: a case report and review of the literature

A 52-year-old man presented with a severe head drop and proximal extremity weakness. Magnetic resonance imaging of the cervical spine showed T2 hyperintensity in cervical paraspinal muscles. Electrodiagnostic studies revealed an axial myopathy isolated to paraspinal muscles. A splenius capitis muscle biopsy confirmed an acute myopathy associated with nonsystemic vasculitis. The patient improved on steroids, intravenous immunoglobulin, and monthly pulse doses of cyclophosphamide. Our case emphasizes that a subgroup of patients with dropped head syndrome have treatable conditions.     

Parkinsonism and neck extensor myopathy: a new syndrome or coincidental findings?

BACKGROUND: Dropped head in parkinsonism has been attributed to dystonia or unbalanced muscle rigidity. To our knowledge, isolated neck extensor myopathy with parkinsonism has been described in only one patient. OBJECTIVES: To assess the occurrence of neck extension weakness resulting in dropped head in patients with parkinsonism and to explore whether the head drop might be the consequence of neck extensor myopathy. PATIENTS AND METHODS: All patients who were evaluated because of parkinsonism in the Department of Neurology in our hospital between January 1, 1997, and December 31, 1999, and were found to have both parkinsonism and neck extension weakness resulting in head drop were studied. The patients underwent clinical examination, blood tests including the levels of creatine kinase and myoglobin and neurophysiological evaluation with needle electromyography and autonomic tests. Open biopsy on a neck muscle was performed in the patients who could cooperate. RESULTS: Of 459 patients evaluated because of parkinsonism, 7 were found to have neck extensor weakness resulting in head drop. Needle electromyography revealed myopathic changes in all 7 patients. Muscle biopsy, which was performed in 5 patients, disclosed myopathic changes in all 5 patients. Electron microscopy revealed mitochondrial abnormalities in 2 of these 7 patients. Three of the patients had concomitant neck rigidity that could contribute to the neck position. All 7 patients had autonomic dysfunction and 6 responded poorly to levodopa therapy, making a diagnosis of multiple system atrophy probable. CONCLUSION: Parkinsonism may be associated with isolated neck extensor myopathy resulting in dropped head, and this condition should be suggestive of multiple system atrophy.     

A patient with myopathy due to preclinical Cushing syndrome]

A 57 year-old man with a history of diabetes mellitus was admitted to our hospital for the complaint of slowly progressive muscle weakness involving proximal limbs and head dropping. His serum CK level was within normal range, and muscle biopsy showed no inflammatory changes. To rule out myasthenia gravis, computerized tomography was done for the detection of thymoma, and detected an adrenal tumor in stead. He was not over-weighted, and his morning plasma levels of ACTH and cortisol were within normal ranges. Additional hormonal examinations revealed daily autonomous hypersecretion of cortisol. He received diagnosis of preclinical Cushing syndrome. After resection of the tumor, muscle weakness improved and his diabetes mellitus was controlled better. The muscle symptoms seem to be related with steroid myopathy. Preclinical Cushing syndrome should be included as a differential diagnosis for myopathy of unknown etiology.     

Sporadic inclusion body myositis presenting with severe camptocormia

Sporadic inclusion body myositis (sIBM) is a slowly progressive idiopathic inflammatory myopathy. The characteristic early quadriceps and finger flexor muscle weakness often leads to the diagnosis of sIBM, especially when all canonical pathological features of sIBM are not present on muscle biopsy. Weakness of the paraspinal muscles, resulting in head drop and/or camptocormia, is a rare clinical finding along the course of sIBM, and even more rare as the presenting feature. We describe two patients with sIBM manifesting with camptocormia as the sole clinical manifestation for several years prior to the diagnosis by muscle biopsy. This observation emphasizes the role of sIBM in the etiology of camptocormia and the need to consider this common myopathy as a cause of weakness, despite the lack of classic quadriceps and finger flexor muscle weakness years after the onset of the paraspinal muscle weakness.