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.     

Terminal hemimyelocystocele associated with Chiari II malformation

Terminal myelocystocele (TMC) results from failure of embryonic CSF to drain outside the neural tube creating CSF reservoir within a dorsal meningocele. Association of Chiari II malformation with diastematomyelia and myelocystocele is extremely rare. Myelocystoceles do not have neural tissue so they have good prognosis after treatment, however when associated with hydromelia and Chiari malformation they present with neurological deficits. We present details of a 2 year old female who presented to us with this rare anomaly.     

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.     

Surgery for spinal cord lipomas

Objectives To analyze the results after surgery for spinal cord lipomas. Methods The authors report their results of management of 63 non consecutive random children with spinal cord lipomas treated over a period from 2001 to 2005, at the All India Institute of Medical Sciences, New Delhi, India, a tertiary care neurosurgical centre. Results There were 63 cases consisting of 32 (52%) conus lipomas, 14 (22%) filum lipomas, 14 (22%) lipomeningomyelocele (lipoMMC), 2 (2.5%) cases of lipomyelocystocele and one (1.5%) case of mixed lipoma. None of the patients who were asymptomatic before surgery deteriorated neurologically, irrespective of the type of lipoma till the last follow up. In those patients with preexisting neurological deficits, the improvement in motor, sensory and bladder abnormalities was only to an extent of 15%, 16% and 21% respectively. None of the children with preexisting neurological deficit regained overall normal function. Nevertheless, the improvement in symptoms after surgery made the patients lead a better social life. Only 6% of patients developed deterioration in neurological function after surgery, all of them occurring in patients already having pre-operative deficits. Conclusions The authors recommend prophylactic surgery which is safe and effective in preventing neurological deficits, irrespective of the type of lipoma. Most of the patients benefit only to some extent even after surgery, once they develop neurological dysfunction. A close long term follow up is recommended in order to detect neurological deterioration even in children operated prophylactically.     

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.     

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.     

神经性膀胱的评价和治疗

目的评价不同严重程度神经性膀胱患儿的治疗方法和结果。方法 2013年4月至2014年1月我们收治神经性膀胱患儿15例,男7例,女8例,年龄1~13岁,均有脊膜膨出修补术病史。全部患儿行尿动力学检查、泌尿系超声和排泄性膀胱尿道造影。尿动力学检查显示9例合并逼尿肌压升高,12例合并膀胱容量减少,7例合并逼尿肌过度活动;泌尿系超声和排泄性膀胱尿道造影显示8例合并肾积水和输尿管扩张,7例合并输尿管反流。5例行手术治疗,其中1例行小肠膀胱扩大及输尿管抗反流术,2例行逼尿肌部分切除膀胱扩大术及输尿管抗反流术,1例行小肠膀胱扩大术,1例行输尿管抗反流术,术后配合清洁间歇导尿。其余10例行清洁间歇导尿,4例同时口服索利那新。结果2例小肠膀胱扩大术后膀胱容量明显增加,逼尿肌压明显下降,输尿管反流消失;2例逼尿肌部分切除膀胱扩大术者膀胱容量略有增加,逼尿肌压略有下降,仍存在输尿管反流。1例输尿管抗反流者反流消失。保守治疗患儿中,膀胱容量在正常容量的2/3以上且逼尿肌压较低的6例患儿中,2例尿失禁消失,2例失禁较前明显减轻,2例无改善;膀胱容量不足正常1/2,逼尿肌压较高的4例患儿中,尿失禁及输尿管反流无明显减轻;4例应用索立那新后逼尿肌过度活动明显减轻。结论尿动力学检查泌尿系超声和排泄性膀胱尿道造影是评价神经性膀胱的重要手段,神经性膀胱患儿要根据其评价结果采取个性化的治疗方案。     

小儿脊髓纵裂畸形合并脊髓栓系综合征的螺旋CT诊断价值

目的 探讨螺旋CT（Spiral CT、SCT）在小儿脊髓纵裂畸形（Split cord malformation，SCM）合并脊髓栓系综合征（Tethered cord syndrome，TCS）中的影像学特点及诊断价值。方法回顾性分析近10年经手术确诊的脊髓纵裂合并脊髓栓系综合征患儿35例，对其术前SCT平扫及多平面重建（Multiplannner reformation，MPR）的影像学特点与X线、MRI、临床表现进行对照分析。结果35例患儿术前SCT显示脊髓纵裂者33例，其中Ⅰ型纵裂23例，与手术所见100％符合；Ⅱ型纵裂10例，符合率83．3％；2例显示不够清楚。结论SCT／MPR诊断脊髓纵裂可获得较满意的图像，是诊断脊髓纵裂的又一重要方法。     

Insights into the Characteristics of Mammalian Cardiomyocyte Terminal Differentiation Shown Through the Study of Mice with a Dysfunctional c-Kit

Mammalian cardiomyocytes withdraw from the cell cycle soon after birth. This process is called terminal differentiation. The c-kit, a receptor tyrosine kinase, is expressed on cardiomyocytes immediately after birth but for only a few days. In mice with genetic c-kit dysfunction, adult cardiomyocytes are phenotypically indistinguishable from those of wild type mice, except that they are capable of proliferation in vivo after acute pressure overload. This review explores the idea that postnatal cardiomyocyte differentiation and cell cycle withdrawal are distinct processes and that terminal differentiation may not simply be due to altered expression of genes that regulate the cell cycle but could involve c-kit induced epigenetic change.     

Predictors of urinary continence following tethered cord release in children with occult spinal dysraphism

ObjectiveChildren with occult spinal dysraphism represent a wide spectrum of patients. Previous studies assessing urologic outcomes have in part been deficient due to the inability to appropriately categorize these patients and gather long-term follow-up data. In this study, a uniform set of patients that had occult spinal dysraphism with magnetic resonance imaging findings of a fatty filum terminale (FF) and/or low-lying cord (LLC) was identified. Utilizing long-term follow-up data, predictors for achieving urinary continence following tethered cord release (TCR) were determined.MethodsA retrospective chart review of pediatric patients with a diagnosis of tethered cord who underwent TCR from 1995 to 2005 was performed. Analysis was limited to patients who had primary TCR by one of two neurosurgeons within our multidisciplinary spina bifida clinic, who had greater than 1-year follow-up, and who were old enough to have continence status assessed (age > 6 years unless definitively toilet trained earlier). Patients with other associated forms of spinal dysraphism (lipomyelomeningeocele, spinal lipomas, sacral agenesis), anorectal malformations, and genitourinary anomalies were excluded. Pre- and post-TCR urodynamics, radiographic studies, functional orthopedic status, and urologic outcomes were assessed. Urodynamic results were categorized by three blinded urologists into one of three urodynamic patterns: (1) normal, (2) indeterminate, and (3) high risk.ResultsA total of 147 patients with FF and/or LLC that underwent TCR were reviewed. 51 patients were excluded because of another associated spinal dysraphism (15/51 patients) or an anorectal/genitourinary anomaly (36/51 patients). Fifty-nine of the remaining 96 patients had adequate long-term follow-up data to be included in the study. 20 patients were asymptomatic at the time of TCR while 39 presented with orthopedic and/or urologic symptoms. The average age at surgery was 59.3 months (range 2–277 months) with an average follow-up of 7.0 years (range 1–16 years). At latest follow-up, 47 (80%) patients were continent while 12 (20%) were either incontinent or utilizing clean intermittent catheterization (CIC). Statistical analysis revealed that age of untethering, type of cutaneous lesion, level of conus, presence of hydronephrosis, and high-grade vesicoureteral reflux (VUR) were not independent predictors of continence. In patients with a cutaneous lesion who were asymptomatic, 19/20 obtained continence post-TCR (*p = 0.036). In patients who were old enough to assess continence pre-TCR, 14/25 patients were continent pre-TCR and 11/25 were incontinent. Of the 14 who were continent pre-TCR, all remained continent post-TCR (*p = 0.002). Of the 11 who were incontinent pre-TCR, five (45%) eventually became continent post-TCR. Assessment of urodynamic data revealed that neither pre- nor post-TCR urodynamics predicted continence status.ConclusionIsolated cutaneous lesions and preoperative continence status are positive predictors for post-TCR continence. While pre- and post-TCR urodynamics do not predict continence status, their utility in preoperative work-up, monitoring for retethering, and long-term urologic follow-up requires further examination.     

Occult neurovesical dysfunction with anorectal malformations

Objective To evaluate for the occurance of occult NVD in children with anorectal malformatons (ARM) using urodynamic evaluation. Methods This prospective study was carried out on children with ARM prior to and following definitive procedure. Urodynamic studies were performed on the Phoenix Griffon machine (Albyn Medical) using Phonix plus software. Result Nineteen children in the age range of 3 months to 156 months (mean=19.2) were included in this study. Among these 19 children 13 underwent re-evaluation after definitive surgery for ARM. There were 11(57.9%) males and 8(42.1%) females. Of the 19 children 14 (73.7%) were cases of high anorectal malformation (HARM) and 5 (26.3%) were cases of low anorectal malformation (LARM). Baseline evaluation done in 19 children revealed seven urodnamci patterns: Normal capacity, compliant without uninhibited contractions (UIC) (21.1%); Normal capacity, compliant with UIC (5.3%); Normal capactity, poorly compliant without UIC (5.3%); Normal capacity, poorly compliant with UIC (10.5%); small capacity, compliant with UIC (5.3%); Small capactity, poorly compliant with UIC (26.3%) and large capacity, complaint with UIC (26.3%). Thirteen patients were evaluated post operativey also and in only 23% (3 of 13) no change in urodynamic pattern were observed. In the remaining 76.9% (10 of 13) some changes in urodynamics pattern were observed. The deleterious changes observed were appearance of UIC in 30.8% (4 of 13), decrease in the bladder capacity in 23% (3 of 13) and decrease in bladder compliance in 15.4% (2 of 13). Conclusion Only 9 of of the 19 patients had normal urodynamics pre-operatively and post-operatively 3 more patients worsened. Incidence of occult NVD is high in patients with ARM even in the absence of clinical and radiological evidence of vertebral or lower uinary tract abnormalities. Though there seems to be a high incidence of changes in the neurovesical functions of these patients following definitive corrective surgery for ARM only time will show whether this has any deleterious effect on the upper tracts.     

CT localization of occult secretory tumors in children

Three seemingly occult secretory tumors in children (pheochromocytoma, ganglioneuroblastoma and islet cell carcinoma) were localized within the abdomen by computed tomography after other diagnostic imaging procedures had failed. The superb density resolution and tomographic formating of CT images make CT uniquely suited for the demonstration of small abdominal lesions. CT is recommended as a primary imaging modality for secretory tumors in children.     

Factors predicting occult bacteremia in young children

A febrile child without a definite localizing sign of infection may be in initial phase of bacteremia which unless treated would result in systemic complication. These instances are referred to as “Occult bacteremia”. The common pathogens isolated in these children areStreptococcus pneumoniae, Hemophilus influenzae andNeisseria meningitidis. A hundred consecutive children in the age group of 3–36 months attending pediatric outpatient department and casualty were clinically evaluated using AIOS (acute illness observation scale) score and were subjected to complete blood counts, smear for malarial parasites, ESR and blood culture. In the 19-month study period, 4 instances of occult bacteremia were identified.Streptococcus pneumoniae was cultured in 3 cases andH. influenzae in one. A febrile and toxic child in the age group of 3–36 months has a high risk of occult bacteremia. High fever of temperature ≥ 102°F, ESR ≥ 15 mm/hour, and total leukocyte count ≥ 15,000 / mm³, in a child with AIOS score of ≥ 10 may be considered for more detailed investigations and early intervention with antimicrobial therapy.     

Faecal occult blood in children with coeliac disease

It has recently been suggested that in adults with coeliac disease, faecal blood loss may play a role in the development of iron deficiency. A group of 45 children diagnosed with coeliac disease during 1996 and 1997 were therefore prospectively evaluated for the presence of gluten in their diet, iron deficiency anaemia, and faecal occult blood. Sixty children admitted for elective surgery or asthma served as controls. Faecal occult blood was found in four iron deficient children on normal diet, of whom three were newly diagnosed. Occult blood loss disappeared in three of the four children when gluten was removed from their diet. Faecal occult blood was found in 26.7% of children on gluten-containing diet, but not in children on gluten-free diet (P=0.01), or in control children (P=0.001). Conclusion Our data suggest that the incidence of occult blood loss in coeliac disease occurs mainly in newly diagnosed cases and responds to a gluten-free diet. Occult blood testing may not be warranted in the absence of iron deficiency anaemia nor in children with iron deficiency anaemia who are on a gluten-free diet. Received: 23 September 1999 and in revised form: 3 April 2000 and 5 May 2000 / Accepted: 7 May 2000     

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.     

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。