EV71型手足口病中枢神经系统并发症急性期影像表现分析

目的分析EV71型手足口病中枢神经系统(CNS)并发症急性期MR表现,探讨其影像学特点及诊断价值。资料与方法回顾分析经实验室检测确诊为EV71型手足口病,临床诊断其伴CNS并发症的62例患儿的临床资料和影像资料,所有患儿均行头颅和/或脊髓MRI平扫及增强。结果 11例临床诊断脑膜炎者MRI均阴性;10例临床诊断为脑炎者仅1例MRI阳性,主要表现为右顶叶皮质下长T1长T2信号,伴轻度强化。41例脑干脑炎有30例MRI阳性,主要为脑桥延髓交界处长T1长T2信号;11例轻-中度强化,其中5例平扫阴性。17例脊髓炎者11例MRI阳性,9例为脊髓中央灰质长T1长T2信号、未见明显强化,(颈、胸和腰分别为4、3、2例),另2例表现为颈髓横贯性脊髓炎,均同时合并脑干。结论 EV71型手足口病CNS并发症MRI检查阳性主要是脑干脑炎,表现为稍长T1和稍长T2信号,增强MRI可发现平扫为阴性病灶,脑干脑炎可同时累及多个部位,合并颈髓横贯性脊髓炎是病情危重的征象。     

急性横贯性脊髓炎的MRI诊断

目的：研究急性横贯性脊同须炎的MRI表现特征。方法：对临床及MRI确诊的11例患者资料进行总结,分析其MRIT1WI、T2WI及GD-DTPA增强扫描后的具体表现。结果：11例患者中1例位于颈延髓,7例位于胸髓及颈髓下端,2例累及颈胸腰髓,1例位于脊髓圆锥。T2WI脊髓中央呈长T2高信号,平均长度为5个脊髓节段,占据脊髓2/3以上横断面积。T1WI相脊髓轻度增粗,增强后脊髓呈间断性条状及斑片状强化,且表面强化为主,无占位效应。结论：MRI是检查该病的最佳影像学检查方法。     

EFNS guidelines on diagnosis and management of neuromyelitis optica

Background and purpose: Neuromyelitis optica (NMO) or Devic′s disease is a rare inflammatory and demyelinating autoimmune disorder of the central nervous system (CNS) characterized by recurrent attacks of optic neuritis (ON) and longitudinally extensive transverse myelitis (LETM), which is distinct from multiple sclerosis (MS). The guidelines are designed to provide guidance for best clinical practice based on the current state of clinical and scientific knowledge. Search strategy: Evidence for this guideline was collected by searches for original articles, case reports and meta‐analyses in the MEDLINE and Cochrane databases. In addition, clinical practice guidelines of professional neurological and rheumatological organizations were studied. Results: Different diagnostic criteria for NMO diagnosis [Wingerchuk et al. Revised NMO criteria, 2006 and Miller et al. National Multiple Sclerosis Society (NMSS) task force criteria, 2008] and features potentially indicative of NMO facilitate the diagnosis. In addition, guidance for the work‐up and diagnosis of spatially limited NMO spectrum disorders is provided by the task force. Due to lack of studies fulfilling requirement for the highest levels of evidence, the task force suggests concepts for treatment of acute exacerbations and attack prevention based on expert opinion. Conclusions: Studies on diagnosis and management of NMO fulfilling requirements for the highest levels of evidence (class I–III rating) are limited, and diagnostic and therapeutic concepts based on expert opinion and consensus of the task force members were assembled for this guideline.     

Dubin-Johnson综合征临床及遗传学特征（附3例报告）

目的　分析Dubin-Johnson综合征（DJS）临床特点及实验室检查并进行相关文献复习，以提高对该类遗传性疾病的认识，减少误诊。方法　2012年10月至2017年10月就诊于广州市妇女儿童医疗中心感染科3例临床疑诊DJS患儿，采用安捷伦外显子芯片捕获+高通量测序的方法对其及父母进行全基因医学外显子测序，分析总结其临床特点及实验室检查并进行相关文献复习。结果　3例患儿均为男性，婴儿期起病，一般情况良好，其中1例合并Bartter综合征，表现为反复低钾、无力；3例肝功能均提示总胆红素升高，直接胆红素升高为主，其余酶学指标均正常。基因学检测提示ABCC2上发现基因突变（共5处），均为未见报道的新发突变。结论　DJS临床表现轻微无特异性，仅表现为结合胆红素增高，由于缺乏血清学标记物，诊断较为困难。基因学检测可精确诊断，并可进行家系分析及验证，新发突变丰富了ABCC2基因突变谱。     

嗅鞘细胞移植治疗脊髓炎后遗证的初步报告

目的：采用嗅鞘细胞移植的方法治疗脊髓炎后遗证，探讨其对损伤神经功能是否有恢复的作用。方法：取4个月以上胚胎嗅球，消化成单个嗅鞘细胞，培养7—12天，然后将其移植到损伤脊髓的上下方。共治疗12例0．5．7年的脊髓炎后遗证患者，患者此前均经过各种方法的治疗。结果：嗅鞘细胞移植后2周-2个月随访，12例患者的神经功能均有改善，且呈持续改善的趋势。结论：嗅鞘细胞移植能够有助于脊髓炎后遗证患者的神经功能恢复。     

Residual bladder dysfunction 2 to 10 years after acute transverse myelitis

OBJECTIVE: Acute transverse myelitis (ATM) is a relatively rare condition in children. The recovery rate is reported to be generally complete. In the current study, the long-term urological outcome of children with ATM was assessed. METHODOLOGY: The medical records of children with ATM admitted to Queen Mary Hospital, Hong Kong, over the last 15 years, were reviewed. RESULTS: The median age of the five children with ATM at the time of onset was 6 years (range = 2-12 years). The median length of follow up was 5 years (2-10 years). Four children recovered completely from paraparesis; two had no urinary symptoms with normal micturition. However, video-urodynamic studies 3 years after the acute onset revealed that four out of the five children, including one without any urinary symptom, suffered from residual bladder dysfunction - two from contractile neurogenic bladder and two from intermediate type of neurogenic bladder. CONCLUSION: Residual bladder dysfunction is common in children suffering from ATM despite improvement of paraparesis and apparent lack of urological symptoms. Long-term follow up of urological function in these patients is recommended.     

Carcinoma of the nasopharynx an optimization of radiotherapeutic management for tumor control and spinal cord injury

A series of 131 patients with carcinoma of the nasopharynx were seen at the University of Chicago between 1949 and 1977. Within this series a subset of 96 patients received initial radiation treatment with curative intent at our institution, and comprises the basis of this report. Treatment doses to both the primary tumor site and the cervical spinal cord were converted to nominal standard doses (NSD). The patients were categorized into NSD intervals from 1200 to greater than 2 100 ret with corresponding incidence of complication: radiation induced cervical cord myelitis and recurrence at the primary site. Paired dose-response curves are presented that show tumor ablation and cervical myelitis as a complication of treatment versus NSD. The 5 % and 10 % incidence levels of radiation induced cervical myelitis are 1450 and 1750 ret, respectively. The therapeutic operating characteristic (TOC) curve of probability of tumor ablation versus the probability of cervical myelitis is developed and shown. A 10 % complication rate resulted from tumor control rates of 53% and 33% for T1, T2 and T3, T4 primary lesions, respectively. An additional 5% increase in cervical myelitis resulted from a 15 % gain in tumor ablation within all levels of primary tumor extension. Because of the higher tolerance of the cervical spinal cord and the poor prognosis for those patients who developed a recurrence at the primary site, the more aggressive treatment approach to all stages of nasopharyngeal carcinoma is proposed.     

Acute flaccid paralysis in Australian children

OBJECTIVES: To describe the epidemiology and causes of acute flaccid paralysis (AFP) in Australian children, and the clinical features of the two most common causes of AFP, Guillain-Barré syndrome and transverse myelitis. METHODS: Monthly active surveillance for AFP was carried out through the Australian Paediatric Surveillance Unit, with AFP defined as 'acute onset of flaccid paralysis in one or more limbs or of bulbar paralysis in any child less than 15 years of age'. RESULTS: Between March 1995 and December 1999, 143 cases of AFP were reported (approximately 0.8 per 100000 children < 15 years of age per annum). The age range was 2 months-14 years and 59% were boys. Out of these children, 137 (96%) were hospitalized and 47 required intensive care. No case of wild or vaccine-associated poliomyelitis was identified. The most common causes of AFP were Guillain-Barré syndrome in 67 (47%) and transverse myelitis in 27 (19%). Other diagnoses included acute disseminated encephalomyelitis, trauma, tick-bite paralysis and infantile botulism. CONCLUSION: The participation of paediatricians in AFP surveillance contributed to the accreditation of Australia (along with the other 36 countries of the western Pacific region) as 'polio free' by the World Health Organization in October 2000. The surveillance also provided data on the frequency of AFP and identified Guillain-Barré syndrome and transverse myelitis as the most common diagnoses. In this large national series, many other conditions that may present as non-polio AFP were identified.     

Plasma exchange for severe attacks of inflammatory demyelinating diseases of the central nervous system

Plasma exchange has not been widely accepted as a treatment for multiple sclerosis. However, several uncontrolled studies have suggested that patients with severe attacks of MS and other inflammatory demyelinating disease may improve rapidly after plasma exchange treatment. We recently completed a randomized, sham-controlled, crossover clinical trial of plasma exchange in 22 patients with idiopathic inflammatory demyelinating diseases of the central nervous system. Twelve had MS and ten had other inflammatory demyelinating disease syndromes. Forty-two percent of patients experienced moderate or greater recovery over 2 weeks of active treatment administered every other day while only 6% of patients experienced similar improvement while receiving sham treatment. Three patients who failed the sham treatment subsequently improved rapidly after crossover to active treatment; no patient who failed active treatment improved after crossover to sham. This study illustrates the importance of designing randomized clinical trials based on the treatment regimen and patient population studied in the uncontrolled reports that suggested treatment efficacy. Plasma exchange should be considered for patients with idiopathic inflammatory demyelinating disease syndromes when they have failed corticosteroid therapy.     

Acute transverse myelitis and Guillain-Barré overlap syndrome with serological evidence for mumps viraemia

Both acute transverse myelitis (ATM) and Guillain-Barré syndrome (GBS) occur as rare associations with mumps viraemia but to our knowledge, concurrent ATM and GBS related to mumps has only been reported once previously. We describe the case of a young woman presenting with confusion and collapse 2 weeks after a flu-like illness. An initial diagnosis of transverse myelitis was made on the basis of the clinical findings and radiological evidence of a swollen spinal cord with uniform high signal change on T2 weighted MRI. The patient was treated with intravenous methylprednisolone without significant recovery. The diagnosis was later revised to include GBS on the basis of worsening facial diplegia in the setting of a flaccid tetraparesis, and neurophysiological evidence of a sensorimotor axonal polyradiculoneuropathy. Acute mumps viraemia was confirmed on serological grounds. The patient made an improvement in ventilatory capacity with intravenous immunoglobulin treatment.