Spina Bifida and Related Conditions

2017 ◽  
Author(s):  
Stephen L. Kinsman
Keyword(s):  
Spinal Cord ◽  
Spina Bifida ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Spinal Dysraphism ◽  
Gene Interactions ◽  
Tethered Spinal Cord ◽  
Spinal Lesion ◽  
Gene Environment ◽  
Spina Bifida Aperta

The term “spinal dysraphism” encompasses the broadest array of the conditions known as the neural tube defects. The open neural tube defects (spina bifida aperta and cystica) include both disorders of primary and/or secondary neuralation and are best defined as myelomeningocele complex (MMC) due to their protean nervous system manifestations beyond the spinal lesion. Closed spinal dysraphisms (so-called spina bifida occulta) include lipomatous lesions, forms of tethered spinal cord, sinus tracts, and forms of split spinal cord (diastematomyelia). Both genetic and environmental etiologies have been identified. Gene-environment and gene-gene interactions are also important in the pathobiology of these conditions.

Anesthesia for Neonatal Myelomeningocele

2021 ◽  
pp. 209-214
Author(s):  
Anna Clebone
Keyword(s):  
Spinal Cord ◽  
Cerebrospinal Fluid ◽  
Spina Bifida ◽  
Neural Tube ◽  
Fetal Development ◽  
Vertebral Column ◽  
Bony Defect ◽  
Spinal Nerves ◽  
Spina Bifida Aperta ◽  
Human Fetal Development

Myelomeningocele, also known as spina bifida aperta (often shortened to the nonspecific name “spina bifida”) is a congenital disorder of the spine. In infants with a myelomeningocele, the neural tube has not closed, and the vertebral arches have not fused during development, leading to spinal cord and meningeal herniation through the skin. Because of the high potential for injury and infection of the exposed spinal cord, which could lead to lifetime disability, these lesions are typically repaired within 24 to 48 hours after birth. A myelomeningocele occurs before day 28 of human fetal development and is an abnormality in which the posterior neural tube closes incompletely. The outcome is a vertebral column deformity, through which the meningeal-lined sac herniates. After the bony defect is created, the hypothesized mechanism of meningeal herniation is that the pulsations of cerebrospinal fluid act progressively to balloon out the spinal cord. If the sac is filled with spinal nerves or the spinal cord, it is known as a myelomeningocele; if the sac is empty, it is called a meningocele.

scholarly journals Tethered cord syndrome with spina bifida aperta in cats: two case reports of different types

2017 ◽  
Vol 3 (1) ◽  
pp. 205511691770806 ◽  
Author(s):  
Masahiro Tamura ◽  
Takashi Oji ◽  
Satoshi Une ◽  
Makiko Mukaino ◽  
Tatsuro Bekki ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Urinary Incontinence ◽  
Spina Bifida ◽  
Tethered Cord ◽  
Tethered Cord Syndrome ◽  
Tethered Spinal Cord ◽  
Dural Sac ◽  
Spina Bifida Aperta ◽  
Different Types ◽  
Progressive Paraparesis

Case summary Two castrated male cats, aged 8 months old (case 1) and 10 months old (case 2), showed a history of progressive paraparesis, an over-reaching pelvic limb gait, urinary incontinence and a palpable dermoid fistula. In case 1, the fistula was connected to the dural sac on the conus medullaris, and the tethered spinal cord was retracted caudally. In case 2, the tubular structure was connected to the dural sac on the thoracic spinal cord, and the tethered spinal cord was retracted dorsally. Tethered cord syndrome secondary to spina bifida aperta was suspected in both cats. Excision of the fistula and release of the tethered spinal cord was performed. A histopathological examination confirmed the diagnosis of a meningomyelocele in case 1 and a meningocele in case 2. Paraparesis improved postoperatively in both cats. However, urinary incontinence in case 1 remained partially unresolved. Relevance and novel information This is the first report to describe the imaging characteristics, surgical treatments and outcomes of two different types of tethered cord syndrome with spina bifida aperta in cats. Tethered cord syndrome with spina bifida aperta needs to be included in the differential diagnosis of slowly progressive paraparesis in younger cats with or without vesicorectal failure and a palpable dermoid fistula.

scholarly journals History of the current understanding and management of tethered spinal cord

2016 ◽  
Vol 25 (1) ◽  
pp. 78-87 ◽  
Author(s):  
Sam Safavi-Abbasi ◽  
Timothy B. Mapstone ◽  
Jacob B. Archer ◽  
Christopher Wilson ◽  
Nicholas Theodore ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Spina Bifida ◽  
20Th Century ◽  
Surgical Management ◽  
Spinal Dysraphism ◽  
Current Understanding ◽  
Spina Bifida Occulta ◽  
Tethered Spinal Cord ◽  
Modern Management ◽  
Modern Imaging

An understanding of the underlying pathophysiology of tethered cord syndrome (TCS) and modern management strategies have only developed within the past few decades. Current understanding of this entity first began with the understanding and management of spina bifida; this later led to the gradual recognition of spina bifida occulta and the symptoms associated with tethering of the filum terminale. In the 17th century, Dutch anatomists provided the first descriptions and initiated surgical management efforts for spina bifida. In the 19th century, the term “spina bifida occulta” was coined and various presentations of spinal dysraphism were appreciated. The association of urinary, cutaneous, and skeletal abnormalities with spinal dysraphism was recognized in the 20th century. Early in the 20th century, some physicians began to suspect that traction on the conus medullaris caused myelodysplasia-related symptoms and that prophylactic surgical management could prevent the occurrence of clinical manifestations. It was not, however, until later in the 20th century that the term “tethered spinal cord” and the modern management of TCS were introduced. This gradual advancement in understanding at a time before the development of modern imaging modalities illustrates how, over the centuries, anatomists, pathologists, neurologists, and surgeons used clinical examination, a high level of suspicion, and interest in the subtle and overt clinical appearances of spinal dysraphism and TCS to advance understanding of pathophysiology, clinical appearance, and treatment of this entity. With the availability of modern imaging, spinal dysraphism can now be diagnosed and treated as early as the intrauterine stage.

Neural Tube Defects

2018 ◽  
Author(s):  
Jimmy Hoang ◽  
Samuel David Yanofsky
Keyword(s):  
Spina Bifida ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Congenital Abnormalities ◽  
Spinal Dysraphism ◽  
Neural Tube Closure ◽  
Increased Risk ◽  
Spina Bifida Cystica ◽  
The Brain ◽  
Is Failure

Neural tube defects (NTDs) are congenital abnormalities that arise from the neural tube failing to close. These defects can affect the brain, spine, or spinal cord and generally happen within the first month of pregnancy. Cranial dysraphism is failure of cranial neural tube closure and includes anencephaly and encephalocele. Spinal dysraphism is failure of caudal neuropore closure and includes spina bifida cystica and occulta. Myelomeningocele is a type of spina bifida cystica where the membranous sac containing neural tissue protrudes through an opening in the back. It is the most common NTD and considered a surgical emergency due to the increased risk for infection, further neurologic damage, and dehydration. Advancements in medicine have allowed for the possibility of early diagnosis and even in utero surgical intervention. This chapter focuses more exclusively on the approach and management of myelomeningocele.

scholarly journals Surgical Treatment of Neural Tube Defects

2021 ◽  
Author(s):  
Juraj Šutovský
Keyword(s):  
Quality Of Life ◽  
Spinal Cord ◽  
Spina Bifida ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Neural Tissue ◽  
Prenatal Development ◽  
Nerve Roots ◽  
Live Births

Neural tube defects (NTDs) are developmental pathologies associated with undesirable lifelong consequences. Incidence of these pathologies differs between countries and regions depending on socio-economic and healthcare quality. It is also influenced by folic acid and zinc supplementation. Genetic factors influence probability of NTD, increasing risk of defect in siblings up to 3–8%. Estimated incidence in United States is 3–4/10000 live births, and worldwide incidence increases on about 10/10000 live births. Despite various types and localizations of spina bifida, in all of them neural tissue is in danger. This can lead to various types of neurologic disorders. Not only due to direct damaging of spinal cord and nerve roots but also other parts of central nervous system are also endangered by disturbed prenatal development. Other consequences as orthopedic abnormalities, bladder, and bowel dysfunction influence quality of life. Surgical therapy is often the only possibility to preserve existing function of neural tissue, allows its further development and prevents complications. In this chapter surgical techniques with aim to restore spinal cord and nerve roots anatomy, preservation of its function and defect closures are presented. Also, treatment of possible comorbidities and complications is discussed. Spina bifida management requires multi-speciality cooperation and care to monitor, prevent and treat various potential complication that can negatively influence quality of life and even survival. Prenatal diagnosis is based on maternal screening of serum alpha fetoprotein (AFP) levels and prenatal ultrasonography examination. As the suspicion of neural tube defect arises, an amniocentesis is recommended to complete a genetic analysis and obtain amniotic fluid for more precise AFP and acetylcholinesterase examination. Some types of neural tube defects are diagnosed after delivery, some are symptomatic until adulthood and some are diagnosed incidentally. Each of them requires specific management, based on underlying pathology.

Prenatal Diagnosis and Patient Preferences in Patients with Neural Tube Defects around the Advent of Fetal Surgery in Belgium and Holland

2014 ◽  
Vol 37 (3) ◽  
pp. 226-234 ◽  
Author(s):  
Céline Ovaere ◽  
Alex Eggink ◽  
Jute Richter ◽  
Titia E. Cohen-Overbeek ◽  
Frank Van Calenbergh ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Spina Bifida ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Fetal Surgery ◽  
Training Material ◽  
Spinal Lesions ◽  
Spina Bifida Aperta ◽  
Prenatal Management ◽  
Open Spina Bifida

Introduction: We review the characteristics and prenatal choices of patients recently evaluated for neural tube defects (NTD) at two tertiary units. The prenatal diagnosis of NTD allows parents to consider all prenatal options. In selected cases of spina bifida aperta this also includes fetal surgery, which we started offering after combined ‘in-house' and ‘exported' training. Material and Methods: This is a retrospective review of prospectively collected data on NTD diagnosed over the last 8 years and recent fetal surgery referrals. Results: A total of 167 patients were referred for assessment at a median of 19 weeks. Cranial lesions were diagnosed significantly earlier than spinal lesions. Of the open spinal lesions, 77% were isolated. Of these, 22% were managed expectantly and 1 (1%) had fetal surgery. There was no correlation between parental decisions on prenatal management with disease-specific severity markers. We had 14 fetal surgery referrals, all but 1 from beyond our typical referral area; 6 of the assessed patients were operated on, 4 were expectantly managed and 4 requested termination of pregnancy (TOP). These pregnancy outcomes were in the expected range. Discussion: Open spina bifida is mainly diagnosed in the second trimester and 76% of subjects request TOP, irrespective of the severity indicators. The number of local patients considering fetal surgery is low.

scholarly journals Gene Environment Interactions in the Etiology of Neural Tube Defects

2021 ◽  
Vol 12 ◽  
Author(s):  
Richard H. Finnell ◽  
Carlo Donato Caiaffa ◽  
Sung-Eun Kim ◽  
Yunping Lei ◽  
John Steele ◽  
...  
Keyword(s):  
United States ◽  
Folic Acid ◽  
Spina Bifida ◽  
Birth Defects ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
The United States ◽  
Model Systems ◽  
Posterior Portion ◽  
Gene Environment

Human structural congenital malformations are the leading cause of infant mortality in the United States. Estimates from the United States Center for Disease Control and Prevention (CDC) determine that close to 3% of all United States newborns present with birth defects; the worldwide estimate approaches 6% of infants presenting with congenital anomalies. The scientific community has recognized for decades that the majority of birth defects have undetermined etiologies, although we propose that environmental agents interacting with inherited susceptibility genes are the major contributing factors. Neural tube defects (NTDs) are among the most prevalent human birth defects and as such, these malformations will be the primary focus of this review. NTDs result from failures in embryonic central nervous system development and are classified by their anatomical locations. Defects in the posterior portion of the neural tube are referred to as meningomyeloceles (spina bifida), while the more anterior defects are differentiated as anencephaly, encephalocele, or iniencephaly. Craniorachischisis involves a failure of the neural folds to elevate and thus disrupt the entire length of the neural tube. Worldwide NTDs have a prevalence of approximately 18.6 per 10,000 live births. It is widely believed that genetic factors are responsible for some 70% of NTDs, while the intrauterine environment tips the balance toward neurulation failure in at risk individuals. Despite aggressive educational campaigns to inform the public about folic acid supplementation and the benefits of providing mandatory folic acid food fortification in the United States, NTDs still affect up to 2,300 United States births annually and some 166,000 spina bifida patients currently live in the United States, more than half of whom are now adults. Within the context of this review, we will consider the role of maternal nutritional status (deficiency states involving B vitamins and one carbon analytes) and the potential modifiers of NTD risk beyond folic acid. There are several well-established human teratogens that contribute to the population burden of NTDs, including: industrial waste and pollutants [e.g., arsenic, pesticides, and polycyclic aromatic hydrocarbons (PAHs)], pharmaceuticals (e.g., anti-epileptic medications), and maternal hyperthermia during the first trimester. Animal models for these teratogens are described with attention focused on valproic acid (VPA; Depakote). Genetic interrogation of model systems involving VPA will be used as a model approach to discerning susceptibility factors that define the gene-environment interactions contributing to the etiology of NTDs.

The horizontal sacrum as an indicator of the tethered spinal cord in spina bifida aperta and occulta

2007 ◽  
Vol 23 (2) ◽  
pp. 1-4 ◽  
Author(s):  
R. Shane Tubbs ◽  
Cuong J. Bui ◽  
Marios Loukas ◽  
Mohammadali M. Shoja ◽  
W. Jerry Oakes
Keyword(s):  
Spinal Cord ◽  
Spina Bifida ◽  
Closed Form ◽  
Signs And Symptoms ◽  
Perinatal Period ◽  
Tethered Spinal Cord ◽  
Spina Bifida Aperta

Object The authors report on symptomatic patients with myelomeningocele (MMC) and lipomyelomeningocele (LMMC) who were found to have changes in their lumbosacral angle (LSA) corresponding to the onset of symptoms indicative of a tethered spinal cord. Methods The authors review data obtained in these two cohorts of patients and compare the LSAs measured in the perinatal period with those seen when the patients presented with symptoms of a tethered spinal cord. Results Children with LMMC, roughly one third of studied cases, were symptomatic due to a tethered spinal cord at their most recent follow-up. In children in whom the MMC was the closed form at birth, 20 of 30 had symptoms that could be indicative of a tethered spinal cord at their most recent follow-up. The LSA was altered in both groups with symptoms. Conclusions Signs and symptoms indicative of a tethered spinal cord appear to correspond to increases in the LSA.

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