Myelomeningocele

脊髓膜膨出
  • 文章类型: Journal Article
    背景:脑膜膨出(MMC)是最常见的神经管缺损,但在早产儿中很少见。大多数中心主张在出生后24小时内关闭MMC。然而,这并不总是可能在严重的早产儿。鉴于这些患者的稀有性,我们的目的是分享我们的机构经验和严重早产儿MMC的结局.
    方法:我们进行了回顾性研究,通过我们的多学科脊柱裂诊所(1995-2021年)和手术日志确定的早产儿(≤32周胎龄)的观察性回顾.对该样本进行描述性统计,包括MMC闭合时间和败血症等不良事件的发生率。脑脊液分流,脑膜炎,和死亡。
    结果:8例患者(50%为男性)患有MMC,胎龄≤32周。该人群的平均胎龄为27.3周(SD3.5)。MMC闭合的中位时间为1.5天(IQR=1-80.8)。5例患者在出生后48小时内接受手术治疗;2例患者明显延迟闭合(107天和139天);1例患者的上皮缺损未经手术干预。8例患者中有6例需要永久性脑脊液(CSF)分流(2例患者接受了脑室腹膜分流(VPS)治疗,3例接受内镜下第三脑室造瘘术(ETV)和脉络丛烧灼术(CPC)治疗,1例接受ETV治疗;出生后平均3年,从1天到16年不等)。两名患者需要一个以上的永久性CSF转移程序。两名患者发展为脓毒症(定义为满足至少2/4SIRS标准)。在这两种脓毒症病例中,患者在出生后72小时以上出现体征和症状。值得注意的是,这两种脓毒症的发生与手术干预无关,因为它们发生在永久性MMC闭合前.两名患者患有脑室内出血(均为III级)。在MMC关闭之前,没有患者发生脑膜炎(定义为阳性CSF培养物)。中位随访时间为9.7年。在这个时代,3名患者死亡:2名患者在2岁之前死亡,原因与手术干预无关。两名III级IVH患者中的一名在MMC闭合后24小时内死亡。
    结论:在我们对患有MMC的早产儿的机构经验中,一些患者接受了延迟的MMC封堵术.脑膜炎的总发病率,脓毒症,患有MMC的早产儿的死亡率与足月出生的MMC患者相似。
    BACKGROUND: Myelomeningocele (MMC) is the most common neural tube defect, but rarely seen in premature infants. Most centers advocate for closure of MMC within 24 h of birth. However, this is not always possible in severely premature infants. Given the rarity of this patient population, we aimed to share our institutional experience and outcomes of severely premature infants with MMC.
    METHODS: We performed a retrospective, observational review of premature infants (≤ 32 weeks gestational age) identified through our multidisciplinary spina bifida clinic (1995-2021) and surgical logs. Descriptive statistics were compiled about this sample including timing of MMC closure and incidence of adverse events such as sepsis, CSF diversion, meningitis, and death.
    RESULTS: Eight patients were identified (50% male) with MMC who were born ≤ 32 weeks gestational age. Mean gestational age of the population was 27.3 weeks (SD 3.5). Median time to MMC closure was 1.5 days (IQR = 1-80.8). Five patients were taken for surgery within the recommended 48 h of birth; 2 patients underwent significantly delayed closure (107 and 139 days); and one patient\'s defect epithelized without surgical intervention. Six of eight patients required permanent cerebrospinal fluid (CSF) diversion (2 patients were treated with ventriculoperitoneal shunting (VPS), three were treated with endoscopic third ventriculostomy (ETV) with choroid plexus cauterization (CPC) and 1 patient treated with ETV; mean of 3 years after birth, ranging from 1 day to 16 years). Two patients required more than one permanent CSF diversion procedure. Two patients developed sepsis (defined as meeting at least 2/4 SIRS criteria). In both cases of sepsis, patients developed signs and symptoms more than 72 h after birth. Notably, both instances of sepsis occurred unrelated to operative intervention as they occurred before permanent MMC closure. Two patients had intraventricular hemorrhage (both grade III). No patients developed meningitis (defined as positive CSF cultures) prior to MMC closure. Median follow up duration was 9.7 years. During this time epoch, 3 patients died: Two before 2 years of age of causes unrelated to surgical intervention. One of the two patients with grade III IVH died within 24 h of MMC closure.
    CONCLUSIONS: In our institutional experience with premature infants with MMC, some patients underwent delayed MMC closure. The overall rate of meningitis, sepsis, and mortality for preterm children with MMC was similar to MMC patients born at term.
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  • 文章类型: Case Reports
    这个案例研究评估了使用法拉第和神经肌肉电刺激的组合来改善诊断为脊柱裂伴脊髓脊膜膨出的小儿患者膀胱/肠的感觉和运动功能的有效性。所有5例患者均为儿科病例,年龄为4-15岁(平均年龄8.4±4.3岁),膀胱和肠功能完全失禁,并自行转诊至Qatif的Leyaqa物理治疗中心,沙特阿拉伯。所有患者的臀部感觉都减弱,并接受了24次电刺激。膀胱和肠道控制分别改善了40%和20%,分别。所有参与者的膀胱感觉都得到了改善,80%的患者肠道感觉得到改善。所有参与者报告便秘改善。在所有参与者中,排空膀胱或肠的冲动或感觉得到了显着改善。根据所研究的一系列病例,可以为刺激电疗的这种组合提供益处。
    This case study evaluated the effectiveness of using a combination of faradic and neuromuscular electrical stimulation to improve the sensory and motor function of the bladder/bowel in pediatric patients diagnosed with spina bifida with myelomeningocele. All five patients were pediatric cases aged 4-15 years (mean age 8.4 ± 4.3 years) with complete incontinence in both bladder and bowel functions and self-referred to the Leyaqa Physical Therapy Center in Qatif, Saudi Arabia. All patients had diminished sensation from the hips down and underwent 24 electrical stimulation sessions. Bladder and bowel control were improved by 40% and 20%, respectively. All participants had improved bladder sensation, and 80% had improved bowel sensation. All participants reported improvement in constipation. Feeling the urge or sensation of emptying the bladder or bowel was dramatically improved in all participants. This combination of stimulation electrotherapy can be offered with benefits according to the series of cases studied.
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  • 文章类型: Journal Article
    目的:研究经颅直流电刺激(tDCS)是否可以优化轮椅篮球运动员在精确任务上的表现。
    方法:一名患有脊髓膜膨出(腰椎水平较低)的右手轮椅篮球运动员(1.5分功能类)参加了该案例研究。tDCS神经调节方案在20分钟的10次干预中应用,电流强度为2mA,同时进行体育专项训练,每周3次,共4周。在右小脑半球(CB2)进行阳极刺激,在左背外侧前额叶皮层进行阴极刺激。对照参与者在同一时期接受假tDCS刺激方案。在干预前以及第5次和第10次干预后,使用“通过准确性”评估功能表现,\"\"罚球射击,\"和\"点射\"测试。使用干预前之间的百分比差异来比较结果指标,中间干预,和干预后价值观。
    结果:在所有测试中,运动员的总分和平均分逐渐增加,基线和最终评估之间总体改善了78%,而对照参与者的总体改善为6.5%。
    结论:tDCS协议可有效提高轮椅篮球运动员的精准活动表现。
    OBJECTIVE: To investigate whether transcranial direct-current stimulation (tDCS) optimizes the performance of a wheelchair basketball player on precision tasks.
    METHODS: A right-handed wheelchair basketball player (1.5 points functional class) with myelomeningocele (low lumbar level) participated in this case study. The tDCS neuromodulation protocol was applied throughout 10 interventions of 20 minutes with a current intensity of 2 mA, simultaneously with sport-specific training, 3 times a week for 4 weeks. Anodic stimulation was performed on the right cerebellar hemisphere (CB2) and cathodic stimulation in the left dorsolateral prefrontal cortex. A control participant was submitted to a sham-tDCS stimulation protocol for the same period. Functional performance was assessed before the intervention and after the 5th and 10th interventions using \"pass accuracy,\" \"free-throw shooting,\" and \"spot shot\" tests. Outcome measures were compared using percentage differences between preintervention, intermediate intervention, and postintervention values.
    RESULTS: There was a gradual increase in the athlete\'s total and average scores in all tests performed, with an overall improvement of 78% between the baseline and final assessments, while the control participant had an overall improvement of 6.5%.
    CONCLUSIONS: The tDCS protocol was effective in improving performance in precision activities in a wheelchair basketball player.
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  • 文章类型: Journal Article
    背景:脊髓膜膨出(MMC)是最严重的脊柱裂形式,神经管发育的先天性缺陷。极低出生体重患者的缺陷闭合存在独特的挑战和风险;较低的出生体重与多器官系统问题有关。稳态是困难的,局部组织不发达。就作者所知,本病例是出生后MMC修复新生儿的最低体重(490g).
    方法:一名早产男性,产前诊断为腰骶部MMC,并伴有Chiari畸形II型,出生23周1天,母亲29岁,孕次6平偶4。患者在生命第5天进行医学稳定并进行MMC闭合。修复时他的体重是490克,他没有任何手术并发症。16个月大的时候,他接受了内镜下第三脑室造瘘术和脉络丛烧灼术;自30个月大的最后一次随访以来,他不需要任何进一步的脑积水治疗。
    结论:据作者所知,该病例是文献中报道的子宫外出生体重最低的MMC封堵术.早产和大小的挑战需要适当的术前稳定,小心止血和体温调节,细致的手术技术。
    BACKGROUND: Myelomeningocele (MMC) is the most serious form of spina bifida, a congenital defect in neural tube development. Defect closure in a patient with an extremely low birth weight presents unique challenges and risks; lower birth weight is associated with multiple organ system concerns, homeostasis is difficult, and local tissue is underdeveloped. To the authors\' knowledge, the present case is the lowest reported weight (490 g) for a neonate with postnatal MMC repair.
    METHODS: A preterm male with a prenatally diagnosed lumbosacral MMC and associated Chiari malformation type II was born at 23 weeks 1 day to a 29-year-old mother, gravidity 6 parity 4. The patient was medically stabilized and underwent MMC closure on day of life 5. His weight was 490 g at the time of this repair, and he did not have any surgical complications. At age 16 months, he underwent endoscopic third ventriculostomy with choroid plexus cauterization; he has not required any further hydrocephalus treatments since the last follow-up at 30 months of age.
    CONCLUSIONS: To the authors\' knowledge, this case is the lowest birth weight ex utero MMC closure reported in the literature. Challenges of prematurity and size required appropriate preoperative stabilization, careful hemostasis and temperature regulation, and meticulous surgical technique.
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  • 文章类型: Journal Article
    背景:颈胸前脊髓脊膜膨出是一种罕见的病理。在报告的案件中,治疗包括分流,孤立的切除和修复,没有畸形矫正,或无脑膜膨出修复的孤立性畸形矫正。作者描述了一位患有颈胸前脊髓脊膜膨出的儿科患者,表现为进行性神经系统衰退。他们同时接受了脊髓膜膨出的治疗,以束缚脊髓并实现对脊柱侧凸畸形的重大矫正。
    方法:一名15岁女孩出生时患有C7-T1-T2半椎体和C7-T1颈脊髓脊膜前膨出。她出现了进行性颈胸脊柱侧凸,最初的左偏瘫,和额外的右偏瘫最终。她通过C7,T1和T2皮质切除术进行了手术修复,并进行了脊髓硬膜内脱离。脊柱侧凸采用C7-T2Ponte截骨术和C2-T5后路固定术治疗,然后用钛笼和前钢板从C6到T3进行前路重建。脊髓膜膨出得到了充分的治疗,并对患者的畸形进行了良好的矫正。术后影像学显示,患者的力量和坚固的关节固定术得到了改善。
    结论:作者描述了儿童前颈胸脊髓膜膨出和相关脊柱侧凸的成功治疗方法。这是实现畸形矫正和脊髓脱离的组合策略的独特报告。
    BACKGROUND: Anterior cervicothoracic myelomeningoceles are a rare pathology. In reported cases, treatment has included shunting, isolated resection and repair without deformity correction, or isolated deformity correction without meningocele repair. The authors describe a pediatric patient with an anterior cervicothoracic myelomeningocele presenting with progressive neurological decline, who underwent simultaneous treatment of the myelomeningocele to detether the spinal cord and achieve major correction of the scoliotic deformity.
    METHODS: A 15-year-old girl was born with C7-T1-T2 hemivertebrae and anterior cervical myelomeningocele at C7-T1. She developed progressive cervical thoracic scoliosis, left hemiparesis initially, and additional right hemiparesis eventually. She underwent surgical repair via C7, T1, and T2 corpectomies with intradural detethering of the spinal cord. The scoliosis was treated with C7-T2 Ponte osteotomies and C2-T5 posterior fixation, followed by anterior reconstruction with a titanium cage and anterior plate from C6 to T3. The myelomeningocele was adequately treated with good correction of the patient\'s deformity. The patient had postoperative improvement in her strength and solid arthrodesis on postoperative imaging.
    CONCLUSIONS: The authors describe the successful treatment of an anterior cervicothoracic myelomeningocele and associated scoliosis in a child. This is a unique report of a combined strategy to achieve both deformity correction and detethering of the spinal cord.
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  • 文章类型: Case Reports
    Chiari畸形是小脑的结构缺陷,其特征是一个或两个小脑扁桃体通过大孔向下移位。介绍了一例具有ChiariII畸形临床特征的女性新生儿的病例报告。这种情况的诊断是通过结合临床和放射学特征进行的。在这种情况下,通过脑部非对比计算机断层扫描(CT)扫描和多平面脑磁共振成像(MRI)证实了诊断.
    Chiari malformations are structural defects in the cerebellum that are characterized by the downward displacement of one or both cerebellar tonsils through the foramen magnum. A case report of a female neonate with clinical features of Chiari II malformation is presented. The diagnosis of this condition was made through a combination of clinical and radiological features. In this case, the diagnosis was confirmed by a noncontrast computed tomography (CT) scan of the brain and multiplanar brain magnetic resonance imaging (MRI).
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  • 文章类型: Case Reports
    胸前脊髓膜膨出是一种非常罕见的疾病。诊断可在出生前或出生后进行。与脊柱生理曲率丧失的关联是常见的。我们报告了一个8岁男孩患有先天性背侧脊柱侧凸的病例,这被认为是非特异性的,物理治疗后略有改善。8岁时发生尿失禁和大便失禁,导致父母咨询泌尿科医生。脊髓的MRI显示胸前异质囊性病变从第三至第八背侧椎骨延伸。异质囊性肿块在所有序列上都包含坚实的脊髓样结构。无异常增大,马尾或小脑杏仁核没有扭转。后颅窝无畸形。CT扫描显示第三胸椎(T3)右侧椎弓根发育伴胸椎侧凸。相关的胸前脊髓膜膨出是最终诊断,促使患者转移到专门的神经外科中心。
    Anterior Thoracic Myelomeningocele is a very rare condition. The diagnosis may be made before or after birth. Association with loss of physiologic curvature of the spine is common. We report the case of an 8-year-old boy with congenital dorsal sinistro-convex scoliosis, which was considered nonspecific and improved slightly after physical therapy. The onset of urinary and fecal incontinence at the age of 8 years led the parents to consult a urologist. MRI of the spinal cord revealed an anterior thoracic heterogeneous cystic lesion extending from the third to the eighth dorsal vertebrae. The heterogeneous cystic mass contained a solid spinal cord-like structure on all sequences. No abnormal enlargement, no torsion of the cauda equina or cerebellar amygdala. No malformation of the posterior fossa. CT scan showed aplasia of the right pedicle of the third thoracic vertebrae (T3) with thoracic scoliosis. The associated anterior thoracic myelomeningocele was the final diagnosis that motivated the transfer of the patient to a specialized neurosurgical center.
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  • 文章类型: Case Reports
    本文报道一例40岁女性,有脊髓膜膨出和神经源性尿失禁病史,18岁时放置人工尿道括约肌(AUS)后出现糜烂和瘘管形成。该患者有长期的尿失禁病史,对先前的脑膜脊髓膨出手术无反应。她报告说阴道中的粪便物质丢失,但直到40岁才寻求进一步的医学评估。临床检查显示耻骨上区域有突出的管子。通过两个管之一的造影剂的给药导致肠loop的可视化,通过尿道给予造影剂证实了直肠之间的联系,膀胱,还有阴道.由于缺乏可靠的手术史,并且没有腹部不适,最初进行双侧肾造口术是为了防止进一步的尿粪物质损失.患者表现出明显的改善,决定不寻求进一步的评估和手术治疗,并在20年的随访期内保持社会融合。此病例强调了AUS放置在患有神经源性尿失禁的年轻女性中的严重后果,并强调了在存在潜在神经系统疾病的情况下正确选择和管理患者的重要性。
    This article reports a case of a 40-year-old woman with a history of myelomeningocele and neurogenic urinary incontinence who developed erosion and fistula formation following the placement of an artificial urinary sphincter (AUS) when she was 18 years old. The patient had a long-standing history of urinary incontinence that was unresponsive to prior surgeries for meningomyelocele. She reported the loss of uro-fecal material from the vagina but did not seek further medical evaluation until the age of 40. Clinical examination revealed protruding tubes from the suprapubic region. The administration of a contrast agent through one of the two tubes led to the visualization of intestinal loops, and the administration of a contrast agent through the urethra confirmed the connection between the rectum, urinary bladder, and vagina. Due to the absence of reliable surgical history and in the absence of abdominal discomfort, bilateral nephrostomies were initially performed to prevent further uro-fecal material loss. The patient showed significant improvement, decided to not seek further evaluation and surgical treatment, and remained socially integrated during the follow-up period of 20 years. This case highlights the severe consequences of AUS placement in a young woman with neurogenic urinary incontinence and emphasizes the importance of proper patient selection and management in the presence of underlying neurological disorders.
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  • 文章类型: Case Reports
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  • 文章类型: Case Reports
    背景:脊髓膜膨出(MMC)是由于胚胎发育过程中神经管无法闭合而导致的畸形,大多数神经管缺陷(NTDs)的病例普遍为沿脊柱的单部位病变,然而,多发性神经管缺陷(MNTDs)是一种非常罕见的疾病。文献中仅发现少数MNTDs病例。
    方法:我们报告一例2个月大的男性婴儿产前诊断为MMC,表现为两个未连接的腰椎和腰骶骨表皮,软,圆顶状肿胀位于中线两侧(椎旁),覆盖完整的皮肤。MRI显示L4-L5水平的双脊髓膜膨出,伴有脊神经根。通过更换鞘囊内的脊髓及其神经根,并在神经结构周围重建覆盖层以类似鞘囊,对患者进行了缺损的手术修复。结果是有利的,术后头部CT扫描未显示任何并发症。
    结论:我们的病例报告被认为是阿尔及利亚第一个报告病情的病例,第一个报告在同一脊柱区域发生双重病变的病例。MMC可能与神经功能缺损或其他先天性异常有关,因此,有必要彻底检查此类患者。然而,在我们的病例中没有产前叶酸缺乏,鉴于怀孕期间缺乏叶酸被认为是该疾病普遍存在的危险因素,因此我们建议在产前进行适当的叶酸补充。MMC病例的最佳手术时机为8±5天。产前宫内修复的条件提供了良好的结果,但具有较高的胎儿和母亲的风险。手术修复应包括囊切除,胎盘的重建和上覆脑膜的闭合。通过对此类病例的早期诊断和适当修复,MMC预后良好,预后良好。
    BACKGROUND: Myelomeningocele (MMC) is a malformation resulting from the neural tube\'s failure to close during embryonic development, and the majority of the cases of neural tube defects (NTDs) were prevalent as single location lesions along the spine; however, multiple NTDs (MNTDs) are a very rare condition. Only a few cases of MNTDs were found in the literature.
    METHODS: We report the case of a 2-month-old male infant prenatally diagnosed with MMC, presented with two unconnected lumbar and lumbosacral epidermal, soft, dome-shaped swellings located on both sides of the midline (paravertebral) covered by intact skin. MRI revealed double MMC at the level of L4-L5, with spinal nerve roots. The patient underwent surgical repair of the defects by replacing the spinal cord and its nerve roots inside the thecal sac and recreating a covering layer around the neural structures to resemble thecal sac. The outcome was favorable, and postoperative head CT scan did not show any complication.
    CONCLUSIONS: Our case report is considered the first from Algeria to report the condition and the first to report the occurrence of double lesions in the same spine region. MMC can be associated with neurological deficits or other congenital anomalies, thus it is necessary to thoroughly examine such patients. However, there was no antenatal folic acid deficiency in our case. We recommend antenatal care with adequate folic acid supplementation given that its deficiency during pregnancy is considered a ubiquitous risk factor for the condition. The optimal timing for surgery of MMC cases is 8 ± 5 days. Prenatal intrauterine repair of the condition provides favorable outcomes but carries high fetal and maternal risks. Surgical repair should include the sac removal, the reconstruction of the placode, and the closure of the overlying meninges. With early diagnosis and proper repair of such cases, MMC has good prognosis and favorable outcomes.
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