Congenital spinal lipomas — Tumor versus hamartoma

Congenital spinal lipomas as a form of dysraphism are frequently reported in literature. A few studies have highlighted their histologic features and found them different from lipomas in other parts of the body. In a review of eight cases of spinal lipomas, we found heterotopic tissue in seven. Neural tissue, muscle, bone and cartilage were frequently encountered. The presence of meningothelial cells in one case was an unusual finding. These findings support the concept of their hamartomatous origin. Malignancy, occurring later in life in one of the heterotopic elements is known, though uncommon, and is one of the reasons, besides neurologic deficit, for long term follow-up.     

脊柱侧弯合并脊髓纵裂136例的临床特征及骨嵴形态学分析

目的 探讨先天性脊柱侧弯合并脊髓纵裂骨嵴在椎管内的形态、节段、位置等形态学特点,提出新的纵裂分型方法,以期指导临床工作.方法 回顾性分析136例先天性脊柱侧弯合并脊髓纵裂患儿的临床资料以及CT、MRI等影像学检查结果.结果 Ⅰ型及Ⅱ型脊髓纵裂在胸腰段的发生率最高,腰段及胸段次之,颈段较少;Ⅰ型脊髓纵裂中椎管内骨嵴的发生节段以腰段最多,其次为胸腰段及胸段,颈段罕见.骨嵴以贯通型多见,存在腹侧型及背侧型,但数量较少.结论 先天性脊柱侧弯患者常合并脊髓纵裂畸形,完善术前CT及MRI等影像学检查有助于更好地了解脊髓纵裂及骨嵴的形态特点,根据骨嵴在椎管内背侧、腹侧或是否贯通进行分类,对脊髓纵裂的病情评估及手术方法 的选择有一定的指导意义.     

小儿颈椎及颈脊髓损伤

目的 总结小儿颈椎及颈脊髓损伤的诊断治疗经验。方法 回顾分析４７例小儿颈椎及颈脊髓损伤。男３１例,女１６例,年龄６－１４岁,平均１１．６岁。新鲜损伤１９例,陈旧性损伤２８例。其中上颈椎损伤３３例,下颈椎损伤１０例,多节段间隔性颈椎损伤１例。无Ｘ线异常的脊椎损伤３例,非手术治疗２７例,手术治疗１９例,未治１例。结果 早期死亡１例。４５例获１－１２年随访,恢复正常或接近正常者３４例,明显改善者６例,５     

Nontraumatic acute and subacute enhancing spinal epidural hematoma mimicking a tumor in a child

We describe a 10-year-old boy who presented with acute onset of neck pain and neurologic symptoms caused by a spinal epidural hematoma. An enhancing mass, which mimicked a tumor, was seen on MR imaging of the cervical spine. The uptake of gadolinium in the mass and the associated mass effect suggested a tumor etiology. Such spinal epidural hematomas are extremely rare in the pediatric population. Additionally, it is even more uncommon for spinal epidural hematomas to resemble tumors. It is important to consider this entity when an enhancing epidural mass is found on MRI in the setting of an acute presentation.     

Acute flaccid paralysis in a patient with sacral dimple

Sacral dimples are the most common cutaneous anomaly detected during neonatal spinal examination. Congenital dermal sinus tract, a rare type of spinal dysraphism, occurs along the midline neuraxis from occiput down to the sacral region. It is often diagnosed in the presence of a sacral dimple together with skin signs, local infection, meningitis, abscess, or abnormal neurological examination. We report a case of acute flaccid paralysis with sensory level in a 4 mo old female infant with sacral dimple, diagnosed by magnetic resonance imaging to be a paraspinal subdural abscess. Surgical exploration revealed a congenital dermal sinus tract extending from the subdural abscess down to the sacral dimple and open to the exterior with a minute opening.     

Apofix器械矫正经后路切除的半椎体畸形

目的介绍经脊柱后路Ⅰ期切除半椎体及椎板夹凸侧加压治疗完全分节型半椎体畸形的方法.方法经C臂机精确定位后,先切除半椎体的棘突、椎板等后半部分,打开肋横关节,从横突外侧剪断肋骨,逐渐挖除椎体松质骨,作椎体间的植骨融合.将具有伸缩性可加长的"["型Apofix 内固定器植入椎板下,逐渐压缩"["型装置,进行清醒试验并沿着器械区域作凸侧椎板植骨融合.结果 7例患儿8个单纯性半椎体,患儿平均年龄7岁,半椎体位置包括下胸椎(T10)到下腰椎(L3),术前Cobb角22°～60°,平均39.3°,术后矫正至3°～30°,平均18.8°,矫正率为52.0%.随访时间7～19个月,平均12个月,最终随访的Cobb角5°～33°,平均17 8°.结论从脊柱后方入路不仅能Ⅰ期完整地切除半椎体,而且免除了前路手术创伤,又避免了因体位变动所造成的神经损伤.     

Spinal muscular atrophy of the scapulo-peroneal-type

A case report is given on a non-familial muscular atrophy with scapuloperoneal distribution in an 8 year old boy. A muscle biopsy and electromyographic studies indicated a neurogenic lesion. Spinal muscular atrophy appears to be the most probable diagnosis. Similar cases cited in the literature are compared with the present case. The differences to spinal muscular atrophy of the Kugelberg-Welander type are pointed out.

---

Zusammenfassung Es wird über einen Fall von spinaler Muskelatrophie mit scapulo-peronealer Verteilung bei einem 8jährigen Jungen berichtet. In der sehr gründlich erhobenen Familienanamnese fand sich kein Hinweis auf eine ähnliche Erkrankung bei den Vorfahren, so daß es sich ähnlich wie eine von Emery beschriebene Beobachtung um einen Einzelfall handelt.Die Diagnose wurde auf Grund der neurologisch-klinischen Befunde sowie den Ergebnissen von Muskelbiopsie und EMG gestellt. Differentialdiagnostisch läßt sich die spinale Muskelatrophie vom scapulo-peronealen Typ gegen die von Kugelberg u. Welander beschriebene Amyotrophie abgrenzen.

     

Spinal tuberculosis in a 14-year-old immigrant in the Netherlands

We present a case of Pott’s disease, where the patient presented with neurological impairment due to vertebral granulomatous necrosis, needing immediate decompression and later stabilizing and reconstructive orthopaedic surgery, in order to create awareness for TB in general, especially this forgotten form of spinal tuberculosis. The authors did not have any financial support or conflict of interest regarding this case report.     

脊髓栓系综合征的诊断和治疗

目的 探讨脊髓栓系综合征(TCS)的诊断和治疗。方法回顾分析我院96例脊髓栓系综合征的临床资料，全部患儿均行脊髓栓系松解术。结果96例中获随访83例，平均随访2年，症状好转者9例，无明显变化的62例，症状加重者12例。结论脊髓栓系综合征患儿需作出正确的诊断和及时的治疗，对大多数脊髓栓系综合征患儿，脊髓栓系松解术仅能够控制疾病的发展速度，术后应定期随访。     

小儿脊髓纵裂诊疗分析

目的探讨小儿脊髓纵裂的临床特点及治疗方法。方法回顾性分析2001年1月至2011年5月作者收治的9例脊髓纵裂患儿临床资料,年龄2个月至6岁,平均年龄17个月。出现症状时间平均7个月。临床表现有背侧中线皮肤病损7例,脊柱畸形4例,下肢功能障碍及畸形4例,排尿障碍6例,排便障碍5例,下肢疼痛1例。6例术前经CT或MRI检查确诊,3例为术中发现。Pang分型：Ⅰ型6例,Ⅱ型3例。所有病例均合并终丝栓系,合并其它脊髓畸形6例,包括脊髓脊膜膨出2例,脊髓脂肪瘤3例,皮样囊肿1例。所有病例均行手术治疗,切除脊髓分隔,同时解除合并的其它脊髓栓系畸形。结果9例患儿中,5例痊愈,所有神经症状消失,3例显著改善,1例好转,无症状加重及无效病例。结论小儿脊髓纵裂多合并其它脊髓畸形,临床表现不典型。早期诊断、早期治疗是提高疗效的关键。     

儿童脊髓内肿瘤的显微外科治疗

目的总结儿童髓内肿瘤的病理特点、显微手术和治疗效果，并进行探讨。方法81例儿童脊髓内肿瘤均经手术切除和病理证实，对手术治疗的效果进行回顾性分析。结果儿童髓内肿瘤以星形细胞瘤24例（29．6％）、室管膜瘤13例（16．0％）和表皮样囊肿11例（13．6％）为多见，不同的病理类型的肿瘤，切除率不同。放疗用于高度恶性的肿瘤。椎板复位术可以有效地减少脊柱畸形的发生率。结论大多数的髓内肿瘤组织学上为低级别星形细胞瘤（Ⅰ～Ⅱ级）、室管膜瘤和胚胎残余组织肿瘤，积极手术切除能够获得满意的疗效。     

中国人群神经管缺陷VANGL1基因突变的筛查及关联研究

目的 探讨VANGL1基因突变和单核苷酸多态性（SNPs）与中国人群神经管缺陷（Neural Tube Defects,NTDs）的相关性.方法 应用聚合酶链反应结合DNA测序技术,对100例NTDs患并及240例对照组的VANGL1基因进行突变筛查,并分析SNP位点是否与NTDs有关.结果 在VANGL1基因的全部8个外显子中,NTDs组及对照组均发现有错义突变c.640C〉T（P.R214W）和c.1127A〉G（P.Q376R）存在,但两组比较差异无统计学意义（P＞0.05）.在VANGL1基因的5＇和3＇端共发现4个SNPs位点存在,分别是-5046C/G、-5048A/C、54740A/G和54932A/G.-5046C/G和-5048A/C的基因型频率在两组间比较,无统计学意义（P〉0.05）;而54740A/G和54932A/G的基因型频率在两组间比较,差异有统计学意义（P〈0.05）.结论 中国人群NTDs患者的VANGL1基因中未发现有单独的基因突变存在,其转录调控区SNPs位点（54740A/G和54932A/G）与NTDs存在相关性.     

Spinal lipomatous malformations

Spinal lipomatous malformations (SLM) include all the closed neural tube defects (NTD) with excessive lipomatous tissue in the spinal cord or filum terminale. We evaluated 65 cases of SLM seen & operated at our department in the last 7 years. Of these only 9 were asymptomatic and 8 were below 2 years of age. There were more males than females. In addition to subcutaneous lipoma many patients also had hypertrichiosis and dermal sinus as cutaneous makes. Twenty patients had foot deformity and 5 had unilateral limb shortening. Sixty-two patients had MRI and 3 had CT myelogram for evaluation. These revealed 7 patients with Chiari malformations, 10 with focal syrinx and 2 patients underwent VP shunt for hydrocephalus. Sacral agenesis was seen in 5 patients. Clinical features were similar to other cases of spinal dysraphism except that sensory loss and trophic ulcer were more frequent. Intradural lipoma and tethering was seen in 18 cases whereas intramedullary lipoma & conus lipoma was seen in 40 & 7 cases respectively. Additional tethering lesion was seen in 1/3 cases and was treated simultaneously. Preoperative deficits improved in 28 cases and stabilized in 33 cases. Three patients developed fresh deficits after surgery. We observed 8 CSF leaks and 4 wound infections in postoperative period. It is very clear from our data that a patient has about 95% chances that his neurological status may improve or stabilize following surgery and the risk of developing fresh deficits is about 5%. We, therefore, suggest that all patients of SLM should be treated with aggressive surgical management for best results.     

Terminal myelocystocele

Terminal myelocystocele is an unusual form of occult spinal dysraphism. It consists of a cystic dilatation of a low-lying terminal cord hemiated posteriorly through a skin covered lumbosacral spina bifida. This condition is often associated with OEIS complex i.e. opmphalocele, exstrophy of the bladder, imperforate anus and spinal abnormality. We studied 4 cases of terminal myelocystocele. They revealed no preoperative neurological deficit. None of these had associated OEIS complex. One of the cyst was unique due to presence of copious amount of pus in its cavity. All four cases underwent successful repair and surgery remained uneventful in all of them. No child showed neurological deterioration during the follow-up.     

Terminal myelocystocele

Terminal myelocystocele is an unusual form of occult spinal dysraphism. It consists of a cystic dilatation of a low-lying terminal cord herniated posteriorly through a skin covered lumbosacral spina bifida. This condition is often associated with OEIS complex i.e. opmphalocele, exstrophy of the bladder, imperforate anus and spinal abnormality. We studied 4 cases of terminal myelocystocele. They revealed no preoperative neurological deficit. None of these had associated OEIS complex. One of the cyst was unique due to presence of copious amount of pus in its cavity. All four cases underwent successful repair and surgery remained uneventful in all of them. No child showed neurological deterioration during the follow-up.     

先天显性脊柱裂胎鼠羊水蛋白谱差异性分析

目的 采用2-D/质谱电泳方法,比较孕17d正常组胎鼠和全反式维甲酸诱导的显性脊柱裂胎鼠羊水蛋白表达谱的变化,筛查先天性显性脊柱裂相关羊水标记物.方法 孕10d大鼠,采用全反式维甲酸胃管灌饲的方法建立先天显性脊柱裂动物模型24只(脊柱裂组),正常对照组9只(正常组).孕17d晨,麻醉孕鼠,显微镜下获取每个胎囊的羊水及胎鼠,并检查胎鼠畸形情况.提取羊水蛋白质,merck试剂盒去除高丰度白蛋白和IgG,行2-D、胶体染色、图像扫描分析及质谱检测,Western-blot进一步验证2-D结果.结果 鉴定出6种蛋白质(其中1种蛋白质可能对应多个蛋白点):甲胎蛋白(AFP)、转铁蛋白(transferrin,TF)、信号识别颗粒受体B亚基(srprb)55kDa、srprb 77kD、α-1抗蛋白酶及载脂蛋白A4(Apo A4).其中,Apo A4和Srprb 77 kDa在脊柱裂组表达下调,而TF、Srprb 55 kDa和a-1抗蛋白酶在脊柱裂组表达上调.46个蛋白质点被鉴定为AFP及其片段,11个AFP蛋白点在脊柱裂组表达降低,35个蛋白点在脊柱裂组表达升高.通过Western-blot共发现69 kDa、52 kDa、36 kDa、24 kDa和14 kDa 5种分子量的AFP片段,其中69 kDa的AFP在脊柱裂组和正常组含量均为最高.脊柱裂组与正常组比较,AFP上调42％,而Apo A4下调44％,组间差异有统计学意义(P＜0.05).结论 本研究发现羊水中6种蛋白质与显性脊柱裂畸形发生有关,进一步研究这些差异表达蛋白,可以为了解脊柱裂的发病机制和产前诊断提供实验依据.     

Pre-operative respiratory assessment for children with spinal deformity

Pre-operative respiratory assessment of children with spinal deformity requires an understanding of the deformity, the proposed surgery and most importantly the children themselves. The assessment and the tailoring of investigations will differ according to the age, developmental level and co-morbidities of the child.This review uses a mixture of evidence and case-based practice in order to set out a suggested framework for pre-operative spinal assessment, and suggested recommendations that may be provided to best support children undergoing surgery for spinal deformity.     

Klinik und Differentialdiagnose der cranialen Migrationshemmung des Rückenmarks

Zusammenfassung Nach einer Literatur-und pathomorphologischen Übersicht wird an Hand von 23 Fällen einer spinalen Malformation unterschiedlicher Genese das klinische Bild der cranialen Migrationshemmung herausgearbeitet. Für die Diagnose ist neben Hautveränderungen über der dorsalen Mittellinie, wie sie für den dysrhaphischen Formenkreis typisch sind, die neurologische Symptomatik der unteren Extremitäten richtungweisen. Der Beweis einer Aszensionshemmung kann nur durch die Myelographie erbracht werden. Die Bedeutung frühzeitiger operativer Maßnahmen zur Verhinderung progredienter Ausfälle wird besonders herausgestellt.

---

Clinical features and differential diagnosis of the restricted cranial migration of the spinal cord

After a review of the literature on, and the pathology of spinal malformations the clinical features of a restricted ascent of the spinal cord are described with reference to 23 cases of spinal dysrhaphism of varying genesis. The suppression of cranial migration is caused either by a diastematomyelia, a lipoma, or a dermoid sinus with direct connection to the spinal cord, or else by myelomeningoceles and cicatrices after arachnitis.The symptoms occur particularly during the early years of life and in the age group of between 20 and 30.The manifestations of the disease are changes over the dorsal midline which are typical for spinal dysraphism, neurological defects of the lower limbs, and abnormalities in the function of bladder and rectum. Deformations of the feet and trophic disturbances have been encountered.Important for the diagnosis is a radiographic investigation of the spine since a restriction of the cranial migration can only be proved by myelography. Operation with view of a release of the spinal cord is the method of choice. The importance of early operative measures for the prevention of progredient deficiencies is particularly stressed.

     

RGD修饰的仿生骨膜及纳米化诱导骨促进兔脊柱融合的实验研究

目的 分析联用RGD修饰的仿生骨膜及纳米化诱导骨促进兔脊柱融合的可行性,探讨其应用潜力.方法 成骨诱导化培养兔脂肪基质细胞、制备释放rhBMP-2的壳聚糖/胶原蛋白/β磷酸三钙膜材及生物衍生型复合基质,联合生物凝胶+动态种植,构建RGD修饰的仿生骨膜与纳米化诱导骨;建立兔腰5～6横突间融合模型,移植5组: A组RGD修饰的仿生骨膜及纳米化诱导骨; B组纳米化诱导骨; C组RGD修饰的仿生骨膜、D组空白支架(nCs-PCL-β-TCP),E组自体髂骨行组织学、免疫组织化学、双能X线吸收法、手动触检及生物力学检查.结果 A组骨性融合能力最强,骨矿物含量(BMC)、骨密度值(BMD)、融合率及力学指标均高于其他组,差异具有统计学意义(P＜0.05);E、C组次之,B组融合相对延缓.D组未融合.结论 RGD修饰的仿生骨膜及纳米化诱导骨能强化骨再生,通过协同诱导、引导、传导效应,促进脊柱融合.