-
Pediatric Neurosurgery 2023Myelomeningocele (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...
INTRODUCTION
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.
CASE PRESENTATION
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.
CONCLUSION
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.
Topics: Infant; Pregnancy; Female; Humans; Male; Meningomyelocele; Neural Tube Defects; Spine; Spinal Cord; Fetus
PubMed: 37075706
DOI: 10.1159/000530726 -
JAMA Aug 2023
Topics: Humans; Dietary Supplements; Folic Acid; Neural Tube Defects; Vitamin B Complex
PubMed: 37526717
DOI: 10.1001/jama.2023.14061 -
The American Journal of Clinical... Sep 2023Neural tube defects (NTDs) still occur among some women who consume 400 μg of folic acid for prevention. It has been hypothesized that intakes of methyl donors and...
Periconceptional intakes of methyl donors and other micronutrients involved in one-carbon metabolism may further reduce the risk of neural tube defects in offspring: a United States population-based case-control study of women meeting the folic acid recommendations.
BACKGROUND
Neural tube defects (NTDs) still occur among some women who consume 400 μg of folic acid for prevention. It has been hypothesized that intakes of methyl donors and other micronutrients involved in one-carbon metabolism may further protect against NTDs.
OBJECTIVES
To investigate whether intakes of vitamin B6, vitamin B12, choline, betaine, methionine, thiamine, riboflavin, and zinc, individually or in combination, were associated with NTD risk reduction in offspring of women meeting the folic acid recommendations.
METHODS
Data were from the National Birth Defects Prevention Study (United States population-based, case-control). We restricted deliveries between 1999 and 2011 with daily periconceptional folic acid supplementation or estimated dietary folate equivalents ≥400 μg. NTD cases were live births, stillbirths, or terminations affected by spina bifida, anencephaly, or encephalocele (n = 1227). Controls were live births without a major birth defect (n = 7095). We categorized intake of each micronutrient as higher or lower based on a combination of diet (estimated from a food frequency questionnaire) and periconceptional vitamin supplementation. We estimated NTD associations for higher compared with lower intake of each micronutrient, individually and in combination, expressed as odds ratios (ORs) and 95% confidence intervals (CIs), adjusted for age, race/ethnicity, education, and study center.
RESULTS
NTD associations with each micronutrient were weak to modest. Greater NTD reductions were observed with concurrent higher-amount intakes of multiple micronutrients. For instance, NTD odds were ∼50% lower among participants with ≥4 micronutrients with higher-amount intakes than among participants with ≤1 micronutrient with higher-amount intake (adjusted OR: 0.53; 95% CI: 0.33, 0.86). The strongest reduction occurred with concurrent higher-amount intakes of vitamin B6, vitamin B12, choline, betaine, and methionine (adjusted OR: 0.26; 95% CI: 0.09, 0.77) compared with ≤1 micronutrient with higher-amount intake.
CONCLUSIONS
Our findings support that NTD prevention, in the context of folic acid fortification, could be augmented with intakes of methyl donors and other micronutrients involved in folate metabolism.
Topics: Female; Humans; Folic Acid; Micronutrients; Betaine; Case-Control Studies; Neural Tube Defects; Trace Elements; Methionine; Racemethionine; Choline; Vitamin B 6; Carbon
PubMed: 37661108
DOI: 10.1016/j.ajcnut.2023.05.034 -
Neurosurgery Apr 2024Low- and middle-income countries (LMICs) face higher incidences and burdens of care for neural tube defects (NTDs) and hydrocephalus compared with high-income countries... (Review)
Review
Comparative Scoping Review of Prenatal Care Resources for Families of Children With Spinal Dysraphism and Hydrocephalus in High-Income Countries and Low- and Middle-Income Countries.
BACKGROUND AND OBJECTIVES
Low- and middle-income countries (LMICs) face higher incidences and burdens of care for neural tube defects (NTDs) and hydrocephalus compared with high-income countries (HICs), in part due to limited access to neurosurgical intervention. In this scoping review, we aim to integrate studies on prenatal care, counseling, and surgical management for families of children with spinal dysraphism and hydrocephalus in LMICs and HICs.
METHODS
PubMed, Embase, Global Index Medicus, and Web of Science electronic databases were searched for English language articles pertaining to prenatal care, counseling, and surgical management for families of children with spinal dysraphism and hydrocephalus in HICs and LMICs. Identified abstracts were screened for full-text review. Studies meeting inclusion criteria were reviewed in full and analyzed.
RESULTS
Seventy studies met the inclusion criteria. Twelve studies (16.9%) were conducted in HICs only, 50 studies (70.4%) were conducted in LMICs only, and 9 studies (12.7%) encompassed both. On thematic analysis, seven underlying topics were identified: epidemiology, folate deficiency and supplementation/fortification, risk factors other than folate deficiency, prenatal screening, attitudes and perceptions about NTDs and their care, surgical management, and recommendations for guideline implementation.
CONCLUSION
NTDs have become a widely acknowledged public health problem in many LMICs. Prenatal counseling and care and folate fortification are critical in the prevention of spinal dysraphism. However, high-quality, standardized studies reporting their epidemiology, prevention, and management remain scarce. Compared with NTDs, research on the prevention and screening of hydrocephalus is even further limited. Future studies are necessary to quantify the burden of disease and identify strategies for improving global outcomes in treating and reducing the prevalence of NTDs and hydrocephalus. Surgical management of NTDs in LMICs is currently limited, but pediatric neurosurgeons may be uniquely equipped to address disparities in the care and counseling of families of children with spinal dysraphism and hydrocephalus.
Topics: Pregnancy; Female; Humans; Child; Prenatal Care; Developing Countries; Developed Countries; Neural Tube Defects; Spinal Dysraphism; Folic Acid; Hydrocephalus
PubMed: 37947403
DOI: 10.1227/neu.0000000000002750 -
FASEB Journal : Official Publication of... Apr 2021The neural tube is the first critically important structure that develops in the embryo. It serves as the primordium of the central nervous system; therefore, the proper... (Review)
Review
The neural tube is the first critically important structure that develops in the embryo. It serves as the primordium of the central nervous system; therefore, the proper formation of the neural tube is essential to the developing organism. Neural tube defects (NTDs) are severe congenital defects caused by failed neural tube closure during early embryogenesis. The pathogenesis of NTDs is complicated and still not fully understood even after decades of research. While it is an ethically impossible proposition to investigate the in vivo formation process of the neural tube in human embryos, a newly developed technology involving the creation of neural tube organoids serves as an excellent model system with which to study human neural tube formation and the occurrence of NTDs. Herein we reviewed the recent literature on the process of neural tube formation, the progress of NTDs investigations, and particularly the exciting potential to use neural tube organoids to model the cellular and molecular mechanisms underlying the etiology of NTDs.
Topics: Animals; Central Nervous System; Disease Models, Animal; Embryo, Mammalian; Humans; Neural Tube; Neural Tube Defects; Organoids
PubMed: 33729606
DOI: 10.1096/fj.202002348R -
Birth Defects Research Aug 2019
Topics: Humans; Neural Tube Defects
PubMed: 31215175
DOI: 10.1002/bdr2.1519 -
Child's Nervous System : ChNS :... Jan 2022Case series, literature review, and technical note. (Review)
Review
STUDY DESIGN
Case series, literature review, and technical note.
OBJECTIVES
To compare two different approaches to treat the spinal deformity with split cord malformation type I (SCM I). To present a new method of one-stage surgical treatment of congenital spinal deformity with wide bony septum (SCM I).
METHODS
Analysis of the literature on the different types of combined surgical treatment of spinal deformities with SCM I was performed. We have provided our own data on 27 patients treated for congenital spinal deformity and SCM I, one of which underwent Schwab IV type osteotomy at the apex of the deformity through the bony septum and pedicles. Inclusion criteria were presence of spinal deformity in combination with SCM 1, performed surgery to correct spinal deformity, and follow-up period of at least 2 years.
RESULTS
The result of the literature review was controversial and requires additional research. The average age of patients was 8.8 ± 6.6 years old. One-stage treatment of SCM I and spinal deformity was performed in 10 patients (group I) and two-stage in 14 patients (group II). Three patients with severe myelodysplasia, SCM I, and congenital kyphoscoliosis underwent correction of spinal deformity without SCM I removing (group III). The group I had the longest surgery duration (mean 289 ± 75 min) and largest blood loss (mean 560 ± 386 ml), a high percentage of deformity correction (mean 69.6%), and the highest rate of complications (60%). The most optimal was the two-stage treatment with the mean surgery duration 191 ± 137 min, mean blood loss 339 ± 436 ml, mean correction rate 63%, and frequency of complications 21%. The average follow-up time was 6.0 ± 2.6 years.
CONCLUSIONS
One stage surgery associated with a large surgical invasion and a large number of complications. It can be used in some cases, for example when the wide bony septum (SCM I) is localized at the apex of the congenital scoliosis or kyphosis. In all other cases, it is worth adhering to a two-stage treatment. Many new works demonstrate the relative safety and effectiveness of deformity correction without removing the SCM. In our opinion, indications for treatment of spinal deformity without SCM I removing can be the need to perform a shortening ostetomy outside the SCM zone. The remaining cases require a thorough assessment and a balanced decision.
Topics: Adolescent; Child; Child, Preschool; Humans; Kyphosis; Neural Tube Defects; Osteotomy; Retrospective Studies; Scoliosis; Spine; Treatment Outcome
PubMed: 34626222
DOI: 10.1007/s00381-021-05382-7 -
PloS One 2023Anencephaly, encephalocele, and spina bifida are congenital neural tube defects and are the main causes of neonatal morbidity and mortality and impose a heavy economic...
Anencephaly, encephalocele, and spina bifida are congenital neural tube defects and are the main causes of neonatal morbidity and mortality and impose a heavy economic burden on health systems. This study to estimates the direct costs of neural tube defects from the perspective of the Brazilian Ministry of Health, and the prevented cases and cost savings during the period in which mandatory folic acid fortification was in effect in the country (2010-2019). It is a top-down cost-of-illness oriented study based on the prevalence of the disorders in Brazil. Data were collected from the Brazilian Ministry of Health's outpatient and hospital information system databases. The direct cost was estimated from the total patient-years, allocated by age and type of disorder. Prevented cases and cost savings were determined by the difference in the prevalence of the disorders in the pre- and post-fortification periods based on the total number of births and the sum of outpatient and hospital costs during the period. The total cost of outpatient and hospital services for these disorders totaled R$ 92,530,810.63 (Int$ 40,565,896.81) in 10 years; spina bifida accounted for 84.92% of the total cost. Hospital costs were expressive of all three disorders in the first year of the patient's life. Between 2010 and 2019, mandatory folic acid fortification prevented 3,499 live births with neural tube defects and resulted in R$ 20,381,586.40 (Int$ 8,935,373.25) in hospital and outpatient cost savings. Flour fortification has proved to be a valuable strategy in preventing pregnancies with neural tube defects. Since its implementation, there has been a 30% decrease in the prevalence of neural tube defects and a 22.81% decrease associated in hospital and outpatient costs.
Topics: Infant, Newborn; Pregnancy; Female; Humans; Folic Acid; Brazil; Flour; Cost Savings; Food, Fortified; Neural Tube Defects; Spinal Dysraphism; Prevalence
PubMed: 36812183
DOI: 10.1371/journal.pone.0281077 -
The Journal of Spinal Cord Medicine Nov 2021Tethered cord syndrome is a progressive condition usually diagnosed early in life, and leads to a diversity of manifestations including neurologic, urologic, and...
Tethered cord syndrome is a progressive condition usually diagnosed early in life, and leads to a diversity of manifestations including neurologic, urologic, and orthopedic dysfunction. We report two cases of tethered cord syndrome associated with a unilaterally absent sural sensory response on nerve conduction studies while other causes of this finding being excluded. We believe that this finding is caused by a selective injury of sensory fibers at the level or distal to the dorsal root ganglia.
Topics: Humans; Neural Conduction; Neural Tube Defects; Neurologic Examination; Spinal Cord Injuries
PubMed: 32496975
DOI: 10.1080/10790268.2020.1766899 -
Food and Nutrition Bulletin Dec 2021Policy makers aiming to reduce micronutrient deficiencies (MNDs) and their health effects must choose among alternative definitions of impact when evaluating...
Predicted Effects and Cost-Effectiveness of Wheat Flour Fortification for Reducing Micronutrient Deficiencies, Maternal Anemia, and Neural Tube Defects in Yaoundé and Douala, Cameroon.
BACKGROUND
Policy makers aiming to reduce micronutrient deficiencies (MNDs) and their health effects must choose among alternative definitions of impact when evaluating cost-effectiveness.
OBJECTIVE
Estimate the cost-effectiveness of a mandatory wheat flour fortification program for reducing cases of MNDs (iron, zinc, folate, vitamin B12), anemia and neural tube defects (NTDs) averted, and disability-adjusted life years (DALYs) averted in urban Cameroon.
METHODS
A 13-year predictive model was developed, including a 3-year start-up period and 10 years of program activity. Costs were estimated using historical program budgets. Effects were calculated based on observed changes in prevalence of MND and anemia 1 year postfortification and predicted reductions in NTDs based on NTD burden and wheat flour intake. Total DALYs averted were estimated for anemia and NTDs.
RESULTS
The program cost ∼$2.4 million over 13 years and averted an estimated ∼95 000 cases of maternal anemia and ∼83 500 cases of iron deficiency among children after 1 year. Cost/case-year averted for MNDs ranged from $0.50 for low plasma folate to $3.30 for iron deficiency and was $2.20 for maternal anemia. The program was predicted to avert 1600 cases of NTDs over 10 years at ∼$1500 per case averted. Estimated cost/DALY averted was $50 for NTDs and $115 for anemia.
CONCLUSIONS
In Cameroon, cost-effectiveness of wheat flour fortification varied by the measure of impact employed, but was classified as "very cost-effective" for all outcomes using World Health Organization criteria. Policy makers and their advisors must determine how best to use information on program costs and benefits to inform their decisions.
Topics: Anemia; Cameroon; Child; Cost-Benefit Analysis; Disability-Adjusted Life Years; Flour; Folic Acid; Food, Fortified; Humans; Iron Deficiencies; Micronutrients; Neural Tube Defects; Triticum
PubMed: 34350785
DOI: 10.1177/03795721211020716