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Advances and Technical Standards in... 2024Tethered cord syndrome is a condition in which the spinal cord is tethered by pathological structures such as a tight filum terminale, intradural lipomas with or without...
Tethered cord syndrome is a condition in which the spinal cord is tethered by pathological structures such as a tight filum terminale, intradural lipomas with or without a connecting extradural component, intradural fibrous adhesions, diastematomyelia, and neural placode adhesions following closure of a myelomeningocele.It usually occurs in childhood and adolescence as the spine grows in length, but it can also develop in adulthood. Symptoms of tethered cord syndrome are slowly progressive and varied. Incorrect diagnosis and inappropriate treatment may be provided if the physician lacks knowledge and understanding of this disease.This chapter aims to describe the pathophysiology, syndromes, diagnostic imaging, surgical treatment, and prognosis of tethered cord syndrome to enhance the understanding of this condition.
Topics: Humans; Neural Tube Defects; Neurosurgical Procedures
PubMed: 38700679
DOI: 10.1007/978-3-031-42398-7_3 -
Pediatric Nephrology (Berlin, Germany) Mar 2024The average worldwide prevalence of neural tube defects (NTDs) is 1.0 per 1000 births. Its development is multifactorial due to genetic and non-genetic factors. Spina... (Review)
Review
The average worldwide prevalence of neural tube defects (NTDs) is 1.0 per 1000 births. Its development is multifactorial due to genetic and non-genetic factors. Spina bifida (SB) is one of main representatives of NTD. The spinal cord lesion level is the main determinant of the level of paralysis, numbness, and difficulties with bladder/bowel functions. Myelomeningocele prenatal repair reduces hydrocephalus and hindbrain herniation and improves motor function. The severity of hydrocephalus is associated with poorer neurodevelopmental outcomes whether operated on prenatally or after birth. People with SB tend to have a lower IQ and cognitive difficulties. Early diagnosis, proactivity, and lifelong multidisciplinary follow-up are key protective issues. Invasive urological interventions should be considered in selected patients after failure of conservative treatment. Transition to adult care should be well planned as it is challenging. Health literacy is directly associated with success at transition. Sexuality and fertility should be addressed before/during puberty. Overall, the rates of fecal and urinary continence and skin breakdown increase with age, whereas the ability to ambulate declines with age. Bowel and urinary incontinence are independent predictors of lower health-related quality of life (HRQoL) in adults with SB. Bowel incontinence has negative impact on HRQoL regardless of frequency or amount. Long-term caregiver support should be offered at diagnosis. Survival at a mean of 50 years is poor, at 32%, due to central nervous system deaths, cancer, urological disease, and sepsis. Challenges to implementation of recommended practices exist, especially in low and middle-income countries.
Topics: Adult; Pregnancy; Female; Humans; Longevity; Quality of Life; Spinal Dysraphism; Urinary Incontinence; Hydrocephalus
PubMed: 37501019
DOI: 10.1007/s00467-023-06067-w -
Neurosurgery Oct 2023Chiari I malformation (CIM) is characterized by descent of the cerebellar tonsils through the foramen magnum, potentially causing symptoms from compression or...
BACKGROUND
Chiari I malformation (CIM) is characterized by descent of the cerebellar tonsils through the foramen magnum, potentially causing symptoms from compression or obstruction of the flow of cerebrospinal fluid. Diagnosis and treatment of CIM is varied, and guidelines produced through systematic review may be helpful for clinicians.
OBJECTIVE
To perform a systematic review of the medical literature to answer specific questions on the diagnosis and treatment of CIM.
METHODS
PubMed and Embase were queried between 1946 and January 23, 2021, using the search strategies provided in Appendix I of the full guidelines.
RESULTS
The literature search yielded 430 abstracts, of which 79 were selected for full-text review, 44 were then rejected for not meeting the inclusion criteria or for being off-topic, and 35 were included in this systematic review.
CONCLUSION
Four Grade C recommendations were made based on Class III evidence, and 1 question had insufficient evidence. The full guidelines can be seen online at https://www.cns.org/guidelines/browse-guidelines-detail/2-symptoms .
Topics: Humans; Neurosurgeons; Arnold-Chiari Malformation; Patients; Evidence Gaps; Foramen Magnum
PubMed: 37646519
DOI: 10.1227/neu.0000000000002634 -
Lancet (London, England) Jul 2023
Topics: Humans; Anencephaly
PubMed: 37393913
DOI: 10.1016/S0140-6736(23)01318-1 -
European Spine Journal : Official... Dec 2023Lumbar kyphosis occurs in approximately 8-20% of patients with myelomeningocele (MMC). The purpose of this article is to analyze the risks and benefits of vertebrectomy...
PURPOSE
Lumbar kyphosis occurs in approximately 8-20% of patients with myelomeningocele (MMC). The purpose of this article is to analyze the risks and benefits of vertebrectomy and spinal stabilization in MMC children with severe lumbar kyphosis and to establish treatment guidelines.
METHODS
This is an IRB-approved retrospective analysis of 59 patients with MMC who underwent kyphectomy and posterior instrumentation in three centers. Average age at surgery was 7.9 years (2 weeks-17 years). Sitting trunk position, skin status, kyphosis angle, and thoracic lordosis were analyzed preoperatively, postoperatively, and at an average follow-up of 8.2 years (range 2.5-16). The correction was maintained by applying a short posterior instrumentation in 6 patients, and extending to the pelvis in 53 cases. Pelvic fixation was achieved using the Warner and Fackler technique in 24 patients, the Dunn-McCarthy in 8, Luque-Galveston in 8, sacral screws in 2, and ilio-sacral screws in 11.
RESULTS
Sitting position improved postoperatively in 47 of the 53 patients who underwent pelvic fixation and only in one patient with short instrumentation. All 6 patients with long instrumentation and poor postoperative sitting balance were in the Dunn-McCarthy fixation group. Skin sores at the apex of the deformity disappeared postoperatively in all patients but recurred in two patients with short instrumentations. Kyphosis angle improved from 109° (45°-170°) preoperatively to 10° (0°-45°) postoperatively and 21° (0°-55°) at last follow-up. The best results were seen in cases where a cross-k-wire fixation of the kyphectomy site was used, augmented with a long thoraco-pelvic instrumentation consisting of Luque sublaminar wires in the thoracic region and a Warner-Fackler type of pelvic fixation. Good results were also found with the bipolar technique and ilio-sacral screw fixation. Six over 24 patients with the Warner and Fackler technique showed gradual dislodgment or hardware failure, with subsequent nonunion of the kyphectomy site in four. Infection, with or without wound dehiscence and/or hardware exposure, occurred in 17 cases, necessitating hardware removal in 9 patients.
CONCLUSION
Lumbar kyphosis in MMC children is best managed by resection of enough vertebrae from the apex to produce a flat lumbar spine, with perfect bone-to-bone contact and long thoraco-pelvic instrumentation using the Warner and Fackler technique through the S1 foramina or the bipolar technique with ilio-sacral screw fixation. Additional local fixation of the osteotomy site using cross-wires with or without cerclage increases the stability of the construct. The majority of complications occurred in patients with short instrumentations or where residual kyphosis persisted postoperatively regardless of the type of pelvic fixation or hardware density. The Dunn-McCarthy technique for pelvic fixation following kyphectomy in MMC was less successful in producing stable pelvic fixation and should not be considered in this patient category.
Topics: Child; Humans; Meningomyelocele; Retrospective Studies; Treatment Outcome; Kyphosis; Scoliosis; Lumbar Vertebrae; Risk Factors; Spinal Fusion
PubMed: 37698696
DOI: 10.1007/s00586-023-07924-w -
Development (Cambridge, England) Oct 2023Closed spinal dysraphisms are poorly understood malformations classified as neural tube (NT) defects. Several, including terminal myelocystocele, affect the distal...
Closed spinal dysraphisms are poorly understood malformations classified as neural tube (NT) defects. Several, including terminal myelocystocele, affect the distal spine. We have previously identified a NT closure-initiating point, Closure 5, in the distal spine of mice. Here, we document equivalent morphology of the caudal-most closing posterior neuropore (PNP) in mice and humans. Closure 5 forms in a region of active FGF signalling, and pharmacological FGF receptor blockade impairs its formation in cultured mouse embryos. Conditional genetic deletion of Fgfr1 in caudal embryonic tissues with Cdx2Cre diminishes neuroepithelial proliferation, impairs Closure 5 formation and delays PNP closure. After closure, the distal NT of Fgfr1-disrupted embryos dilates to form a fluid-filled sac overlying ventrally flattened spinal cord. This phenotype resembles terminal myelocystocele. Histological analysis reveals regional and progressive loss of SHH- and FOXA2-positive ventral NT domains, resulting in OLIG2 labelling of the ventral-most NT. The OLIG2 domain is also subsequently lost, eventually producing a NT that is entirely positive for the dorsal marker PAX3. Thus, a terminal myelocystocele-like phenotype can arise after completion of NT closure with localised spinal mis-patterning caused by disruption of FGFR1 signalling.
Topics: Animals; Humans; Mice; Neural Tube Defects; Phenotype; Spinal Cord; Spinal Dysraphism; Spine; Receptor, Fibroblast Growth Factor, Type 1
PubMed: 37756583
DOI: 10.1242/dev.202139 -
Child's Nervous System : ChNS :... Nov 2023Open spina bifida (OSB) is a common neural tube defect. Medical and surgical care involves addressing the baseline orthopedic, urologic, and neurological dysfunction as... (Review)
Review
Open spina bifida (OSB) is a common neural tube defect. Medical and surgical care involves addressing the baseline orthopedic, urologic, and neurological dysfunction as well as the changes or declines that may occur as the patient ages. Given the complexity of this disease, coordinated, multidisciplinary care involving specialists in neurosurgery, orthopedics, urology, rehabilitation and physical medicine, pediatrics, and psychology is necessary to establish and optimize baseline function. Traditionally in the US, pediatric multispecialty spina bifida clinics have provided the patient with a coordinated medical support system. Unfortunately, this coordinated, medical home has been difficult to establish during the transition from pediatric to adult care. Medical professionals must have a strong understanding of OSB to properly manage the disease and detect and prevent associated complications. In this manuscript, we (1) describe the changing needs and challenges of people living with OSB over a lifespan, (2) delineate current practices in the transition of care for people with OSB from childhood to adulthood, and (3) provide recommendations for best practices in navigating the transition process for clinicians who provide care for those afflicted with this most complex congenital abnormality of the nervous system compatible with long term survival.
Topics: Adult; Humans; Adolescent; Child; Young Adult; Folic Acid; Transition to Adult Care; Anencephaly; Food, Fortified; Spinal Dysraphism; Spina Bifida Cystica
PubMed: 37099139
DOI: 10.1007/s00381-023-05955-8 -
World Neurosurgery Jul 2023The purpose of the present study was to evaluate the influence of high nerve tension on lumbar disc degeneration and sagittal morphologies.
OBJECTIVE
The purpose of the present study was to evaluate the influence of high nerve tension on lumbar disc degeneration and sagittal morphologies.
MATERIALS AND METHODS
A total of 50 young and middle-aged patients (mean age 32.1 ± 7.4 years, 22 men and 28 women) who suffered from tethered cord syndrome (TCS) were retrospectively assessed by two observers. Demographic and radiological data were recorded, including lumbar disc degeneration, disc height index and lumbar spine angle, and were compared with 50 patients (mean age 29.7 ± 5.4 years, 22 men and 28 women) without spinal cord abnormalities. Statistical associations were assessed by student's t-test and chi-square test.
RESULTS
Our results showed patients with TCS had a significantly higher rate of lumbar disc degeneration in L1/2, L2/3, L4/5 and L5/S1 than in those without TCS (P < 0.05). Moreover, the rates of multilevel disc degeneration and severe disc degeneration in TCS group were significantly higher than those in control group (P < 0.01). The mean disc height index of L3/4 and L4/5 in TCS group was significantly lower than that in control group (P < 0.05). The mean lumbosacral angle of TCS patients was significantly higher than that of patients without TCS (38.4 ± 3.5°vs. 33.7 ± 5.9°, P < 0.01).
CONCLUSIONS
We found a certain correlation between TCS and lumbar disc degeneration and lumbosacral angle enlargement, suggesting that the spine reduces the high tension of the spinal cord through disc degeneration. Therefore, it is speculated that there is a "compromised regulation" mechanism in the body under the condition of neurological abnormalities.
Topics: Middle Aged; Male; Adult; Humans; Female; Young Adult; Intervertebral Disc Degeneration; Retrospective Studies; Lumbar Vertebrae; Radiography; Neural Tube Defects; Intervertebral Disc
PubMed: 37028480
DOI: 10.1016/j.wneu.2023.03.134 -
JAMA Internal Medicine Mar 2024Use of buprenorphine or methadone to treat opioid use disorder is recommended in pregnancy; however, their teratogenic potential is largely unknown.
IMPORTANCE
Use of buprenorphine or methadone to treat opioid use disorder is recommended in pregnancy; however, their teratogenic potential is largely unknown.
OBJECTIVE
To compare the risk of congenital malformations following in utero exposure to buprenorphine vs methadone.
DESIGN, SETTING, AND PARTICIPANTS
This population-based cohort study used health care utilization data from publicly insured Medicaid beneficiaries in the US from 2000 to 2018. A total of 13 360 pregnancies with enrollment from 90 days prior to pregnancy start through 1 month after delivery and first trimester use of buprenorphine or methadone were included and linked to infants. Data were analyzed from July to December 2022.
EXPOSURE
A pharmacy dispensing of buprenorphine or a code for administration of methadone in the first trimester.
MAIN OUTCOMES AND MEASURES
Primary outcomes included major malformations overall and malformations previously associated with opioids (any cardiac malformations, ventricular septal defect, secundum atrial septal defect/nonprematurity-related patent foramen ovale, neural tube defects, clubfoot, and oral clefts). Secondary outcomes included other organ system-specific malformations. Risk differences and risk ratios (RRs) were estimated comparing buprenorphine with methadone, adjusting for confounders with propensity score overlap weights.
RESULTS
The cohort included 9514 pregnancies with first-trimester buprenorphine exposure (mean [SD] maternal age, 28.4 [4.6] years) and 3846 with methadone exposure (mean [SD] maternal age, 28.8 [4.7] years). The risk of malformations overall was 50.9 (95% CI, 46.5-55.3) per 1000 pregnancies for buprenorphine and 60.6 (95% CI, 53.0-68.1) per 1000 pregnancies for methadone. After confounding adjustment, buprenorphine was associated with a lower risk of malformations compared with methadone (RR, 0.82; 95% CI, 0.69-0.97). Risk was lower with buprenorphine for cardiac malformations (RR, 0.63; 95% CI, 0.47-0.85), including both ventricular septal defect (RR, 0.62; 95% CI, 0.39-0.98) and secundum atrial septal defect/nonprematurity-related patent foramen ovale (RR, 0.54; 95% CI, 0.30-0.97), oral clefts (RR, 0.65; 95% CI, 0.35-1.19), and clubfoot (RR, 0.55; 95% CI, 0.32-0.94). Results for neural tube defects were uncertain given low event counts. In secondary analyses, buprenorphine was associated with a decreased risk of central nervous system, urinary, and limb malformations but a greater risk of gastrointestinal malformations compared with methadone. These findings were consistent in sensitivity and bias analyses.
CONCLUSIONS AND RELEVANCE
In this cohort study, the risk of most malformations previously associated with opioid exposure was lower in buprenorphine-exposed infants compared with methadone-exposed infants, independent of measured confounders. Malformation risk is one factor that informs the individualized patient decision regarding medications for opioid use disorder in pregnancy.
Topics: Pregnancy; Infant; Female; Humans; Adult; Methadone; Buprenorphine; Pregnancy Trimester, First; Cohort Studies; Clubfoot; Foramen Ovale, Patent; Pregnancy Complications; Opioid-Related Disorders; Analgesics, Opioid; Heart Defects, Congenital; Neural Tube Defects; Heart Septal Defects, Ventricular
PubMed: 38252426
DOI: 10.1001/jamainternmed.2023.6986 -
BMJ Case Reports Dec 2023Chiari malformation (CM) is a group of complex deformities of the posterior fossa and hindbrain, of which CMIII is the rarest. We report a term neonate, with an...
Chiari malformation (CM) is a group of complex deformities of the posterior fossa and hindbrain, of which CMIII is the rarest. We report a term neonate, with an antenatal diagnosis of occipital encephalocele, who underwent resection of the encephalocele and ligation of vessels, with repair of a large scalp defect and dural reconstruction on day 4 of life. The parents of the child had been counselled for a guarded and poor prognosis on initial diagnosis. The child has had a good postoperative course without complications but suffers from cortical visual impairment and global developmental delay.
Topics: Humans; Infant, Newborn; Arnold-Chiari Malformation; Cerebellum; Encephalocele; Magnetic Resonance Imaging; Rhombencephalon
PubMed: 38087482
DOI: 10.1136/bcr-2023-255677