Systematic Classification of Spina Bifida.

Spina bifida (SB) is an umbrella term for multiple conditions characterized by misclosure of vertebral arches. Neuropathologic findings in SB cases are often reported with imprecise and overlapping terminology. In view of the increasing identification of SB-associated genes and pathomechanisms, the precise description of SB subtypes is highly important. In particular, the term "myelomeningocele" is applied to various and divergent SB subtypes. We reevaluated 90 cases with SB (58 prenatal; 32 postnatal). The most frequent SB phenotype in our cohort was myeloschisis, which is characterized by an open neural plate with exposed ependyma (n = 28; 31.1%). An open neural plate was initially described in only in two-thirds of the myeloschisis cases. An additional 21 cases (23.3%) had myelomeningocele; 2 cases (2.2%) had a meningocele; and 21 cases (23.3%) had an unspecified SB aperta (SBA) subtype. Overall, the SB phenotype was corrected in about one-third of the cases. Our findings highlight that "myelomeningocele" and "SB aperta" cannot be used as synonymous terms and that myeloschisis is an underreported SB phenotype. Based on our findings and a review of literature we propose a classification of SB subtypes in SB occulta and the 3 SBA subtypes, meningocele, myelomeningocele, and myeloschisis.

Interpeduncular angle: A new parameter for assessing intracranial hypotension in fetuses with spinal dysraphism.

OBJECTIVE: To investigate the role of the interpeduncular angle (IPA) as a new indicator of intracranial hypotension in fetuses with open spinal dysraphism (SD). METHODS: Two groups of fetuses undergoing magnetic resonance imaging (MRI) examination were identified. The study group included fetuses with open SD (n = 21), while the control group included fetuses with a normal brain and spine (n = 43). Two observers retrospectively evaluated axial T2-weighted images of the brain and the IPA was identified and measured. Other features of the Chiari II malformation were also evaluated in the study group and correlated with the IPA. RESULTS: The average value (±SD) of the IPA for the study and control groups was 9.8° ± 18.5° and 60.2° ± 5.9°, respectively. The intergroup analysis of the IPA measurements revealed a statistically significant difference between the groups (p < 0.005). Brainstem slumping or cerebellar tonsillar descent, collapse of the fourth ventricle, and ventriculomegaly also had a significant correlation with a lower IPA (p = 0.001). CONCLUSION: Measuring the IPA may be a useful technique for assessing the degree of intracranial hypotension in fetuses with open SD. This technique can also detect less severe cases of prenatal intracranial hypotension, even before cerebellar tonsillar descent. The lower IPA in fetuses with open SD further supports the theory that cerebrospinal fluid leakage, and not traction, is the underlying cause of Chiari II malformation.

Tendencia de los Defectos de Tubo Neural en el Estado de Hidalgo México del 2013-2018 / Trend of Neural Tube Defects in Hidalgo Mexico from 2013-2018

INTRODUCCIÓN: los Defectos de Tubo Neural (DTN) son defectos congénitos del sistema nervioso central resultado del cierre inadecuado en alguna zona del tubo neural, siendo los más frecuentes Anencefalia y Espina Bífida en sus diferentes variantes. En Latinoamérica y México se encuentran dentro de las principales causas de morbilidad y mortalidad infantil. MATERIAL Y MÉTODOS: Análisis de series de tiempo de casos y defunciones de DTN en Hidalgo del 2013-2018 generado a partir de la base de datos de la Dirección General de Vigilancia Epidemiológica de los Defectos del Tubo Neural y Craneofaciales proporcionada por la Secretaria de Salud del Estado de Hidalgo, se incluyeron 187 casos con DTN que nacieron y radican en el Estado. Se calcularon las tasas de mortalidad infantil específicas por DTN con el objetivo de identificar probables factores que incidan o incrementen dichas tendencias. RESULTADOS: la incidencia de DTN fue de 58.7 en el periodo estudiado, la Anencefalia es el más incidente 45% (84), seguido del Mielomeningocele 33% (62) él cual muestra una incidencia creciente. El 84% de la población estaba afiliada al Seguro Popular. Solo el 7.5% (14) de las madres de los casos consumieron ácido fólico tres meses previos al embarazo y el 55% (103) acudieron a 3 consultas prenatales o menos. CONCLUSIONES: Los DTN requieren de estudio y vigilancia permanente pues representan una causa importante de morbilidad y mortalidad en la infancia que afecta a los individuos que los padecen, sus familias, la sociedad y el sistema de salud, con esto se evitarían resultados negativos

INTRODUCTION: Neural Tube Defects (DTN) are congenital defects of the central nervous system resulting from an inadequate closure in some area of ​​the neural tube, the most frequent being Anencephaly and Spina Bifida in their different variants. In Latin America and Mexico, they are among the main causes of infant morbidity and mortality. MATERIAL AND METHODS: Analysis of time series of cases and deaths of DTN in Hidalgo from 2013-2018 generated from the database of the General Directorate of Epidemiological Surveillance of Neural Tube and Craniofacial Defects directly by the Ministry of Health of the State of Hidalgo, included 187 cases with DTN that were born and reside in the State. DTN specific infant mortality rates will be calculated in order to identify probable factors that influence or increase various trends. RESULTS: the incidence of DTN was 58.7 in the period studied, Anencephaly is the most incident 45% (84), followed by Myelomeningocele 33% (62), which shows an increasing incidence. 84% of the population was affiliated at the Seguro Popular. Only 7.5% (14) of the mothers of the cases consumed folic acid three months before the pregnancy and 55% (103) attended 3 or less prenatal visits. CONCLUSIONS: DTN are problems of study and permanent surveillance, since they represent an important cause of morbidity and mortality in childhood that affect the individuals who suffer, their families, society and the health system, this would avoid negative results

Posterior-only surgical correction with heavy halo-femoral traction for the treatment of rigid congenital scoliosis associated with split cord malformation.

BACKGROUND: Whether or not, prophylactic neurosurgical interventions of split cord malformation (SCM) before undertaking corrective surgery was the focus of debate. The present study was performed to evaluate the safety and efficacy of posterior-only surgical correction with heavy halo-femoral traction for the treatment of rigid congenital scoliosis (RCS) associated with SCM. METHODS: From 2011 to 2017, 24 patients suffered from RCS associated with SCM underwent posterior-only surgical correction with heavy halo-femoral traction. The apex of the deformity was lumbar (n = 9), thoracic (n = 11), and thoracolumbar (n = 4). There were 13 cases of failure of segmentation; 4 cases of failure of formation and 7 cases of mixed defects. Based on SCM classification, there were 14 patients with SCM type 1 and 10 patients with SCM type 2. The Scoliosis Research Society (SRS)-22 and modified Japanese Orthopaedic Association (mJOA) scores were assessed preoperatively and at the final follow up. RESULTS: The mean duration of surgery was 327.08 ± 43.99 min and the mean blood loss was 1303.33 ± 526.86 ml. The mean follow-up period was 20.75 ± 8.29 months. The preoperative mean coronal Cobb angle was 80.38° ± 13.55°; on the bending radiograph of the convex side, the mean Cobb angle was 68.91° ± 15.48°; the mean flexibility was 15.04% ± 7.11%. After heavy halo-femoral traction, the mean coronal Cobb angle was reduced to 56.89° ± 13.39°. After posterior-only surgical correction, postoperative mean coronal Cobb angle was further reduced to 32.54° ±11.33°. The postoperative mean correction rate was 60.51% ± 7.79%. At the final follow up, the corrective loss rate of Cobb angle was only 3.17%. The SRS-22 total score improved at the final follow-up evaluation compared with the preoperative SRS-22 total score. The spinal cord function was stable and there were no new neurological symptoms after correction. There were no significant differences between final follow-up and preoperative mJOA total scores. CONCLUSIONS: Without prophylactic neurosurgical intervention and spine-shortening osteotomy, posterior-only surgical correction with heavy halo-femoral traction could be safe and effective for the treatment of RCS associated with SCM.

Interrater Reliability of the Pediatric Neuromuscular Recovery Scale in Children with Spina Bifida.

Purpose: The purpose of this study was to examine the interrater reliability of the Pediatric Neuromuscular Recovery Scale (Peds NRS) to classify motor capacity in children with myelomeningocele (MMC) form of spina bifida.Methods: Twenty-one children with MMC (1.5-10 years of age) were each scored on the Peds NRS three times: two live testing sessions and one video recorded session. Every child was scored by two physical therapists and one occupational therapist. Interrater reliability was analyzed using intraclass correlation coefficients (ICC) for individual items and the summary score.Results: Strong interrater reliability was determined for the overall Peds NRS score (ICC = 0.89; 95% CI, .80-.95). Eleven of 16 individual items exhibited good to excellent reliability (ICC ≥ 0.80). Pediatric clinicians were able to reliably administer and score the Peds NRS on children with MMC, representing a wide range of ages and functional levels.

Unjoined primary and secondary neural tubes: junctional neural tube defect, a new form of spinal dysraphism caused by disturbance of junctional neurulation.

INTRODUCTION: Primary and secondary neurulation are the two known processes that form the central neuraxis of vertebrates. Human phenotypes of neural tube defects (NTDs) mostly fall into two corresponding categories consistent with the two types of developmental sequence: primary NTD features an open skin defect, an exposed, unclosed neural plate (hence an open neural tube defect, or ONTD), and an unformed or poorly formed secondary neural tube, and secondary NTD with no skin abnormality (hence a closed NTD) and a malformed conus caudal to a well-developed primary neural tube. METHODS AND RESULTS: We encountered three cases of a previously unrecorded form of spinal dysraphism in which the primary and secondary neural tubes are individually formed but are physically separated far apart and functionally disconnected from each other. One patient was operated on, in whom both the lumbosacral spinal cord from primary neurulation and the conus from secondary neurulation are each anatomically complete and endowed with functioning segmental motor roots tested by intraoperative triggered electromyography and direct spinal cord stimulation. The remarkable feature is that the two neural tubes are unjoined except by a functionally inert, probably non-neural band. CONCLUSION: The developmental error of this peculiar malformation probably occurs during the critical transition between the end of primary and the beginning of secondary neurulation, in a stage aptly called junctional neurulation. We describe the current knowledge concerning junctional neurulation and speculate on the embryogenesis of this new class of spinal dysraphism, which we call junctional neural tube defect.

Factors associated with pressure ulcers in individuals with spina bifida.

OBJECTIVE: To describe factors associated with pressure ulcers in individuals with spina bifida (SB) enrolled in the National Spina Bifida Patient Registry (NSBPR). DESIGN: Unbalanced longitudinal multicenter cohort study. SETTING: Nineteen SB clinics. PARTICIPANTS: Individuals with SB (N=3153) enrolled in 19 clinic sites that participate in the NSBPR. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Pressure ulcer status (yes/no) at the annual visit between 2009 and 2012. RESULTS: Of 3153 total participants, 19% (n=603) reported ulcers at their most recent annual clinic visit. Seven factors-level of lesion, wheelchair use, urinary incontinence, shunt presence, above the knee orthopedic surgery, recent surgery, and male sex-were significantly associated with the presence of pressure ulcers. Of these factors, level of lesion, urinary incontinence, recent surgery, and male sex were included in the final logistic regression model. The 3 adjusting variables-SB type, SB clinic, and age group-were significant in all analyses (all P<.001). CONCLUSIONS: By adjusting for SB type, SB clinic, and age group, we found that 7 factors-level of lesion, wheelchair use, urinary incontinence, shunt presence, above the knee orthopedic surgery, recent surgery, and male sex-were associated with pressure ulcers. Identifying key factors associated with the onset of pressure ulcers can be incorporated into clinical practice in ways that prevent and enhance treatment of pressure ulcers in the population with SB.

The diagnostic features of spina bifida: the role of ultrasound.

Myelomeningocele (MMC) is one of the most devastating, nonlethal congenital anomalies worldwide. The live birth prevalence of MMC changed dramatically in the 1980s with the introduction of maternal serum screening and the widespread use of prenatal ultrasound imaging. The high-resolution ultrasound affordable today with state-of-the-art equipment allows us to make a very accurate diagnosis of MMC, including details related to the entire fetal central nervous system. Ultrasound can accurately localize the site of the osseous and soft tissue defects. Congenital spinal defects can be characterized definitively as open or closed, which are treated very differently with in utero repair, which is done in some cases, compared to only conservative follow-up with postnatal therapy for occult defects. Additional findings of kyphosis, scoliosis and anomalous vertebrate and associated conditions such as cervical syrinx can be identified. The state of the intracranial structures, including the presence or absence of ventriculomegaly and hindbrain herniation, as well as unexpected complications such as intracranial hemorrhage can be diagnosed. The severity of neurological compromise in some fetuses can be estimated by detailed examination of the lower extremities. As well as searching for talipes, we also now routinely characterize flexion and extension motions at the hip, knee and ankle joints. The information provided by ultrasound plays a crucial role, now more than ever, in patient counseling and pregnancy management. This article emphasizes how we utilize ultrasound in the evaluation of patients with suspected MMC at the Center for Fetal Diagnosis and Treatment at the Children's Hospital of Philadelphia.

Update on neuromuscular disorders in pediatric orthopaedics: Duchenne muscular dystrophy, myelomeningocele, and cerebral palsy.

The purpose of this seminar was to review a large range of lower extremity and neuromuscular disorders. Because of the diversity of the topics covered, including clubfoot and vertical talus treatment, management of Legg-Calve-Perthes disease, and limb lengthening in dwarfism, this review will focus on the neuromuscular subsection reviewing the current management of the muscular dystrophies, myelomeningocele, and cerebral palsy.

Children with spinal abnormalities have an increased health burden from upper tract urolithiasis.

OBJECTIVE: To examine the epidemiology and health care burden of upper tract urolithiasis in children with spinal abnormalities using a large, national database. Children with spinal dysraphism are predisposed to urolithiasis for many reasons, including immobility, bacteriuria, and urinary stasis. No large epidemiologic studies exist regarding stones in this specific group. Isolated spinal curvature may lead to hypercalciuria from immobility; however, urolithiasis rates are unknown. METHODS: We extracted data from the Pediatric Health Information Systems database over an 8-year period. Hospitals reporting inpatient visits, emergency room visits, and ambulatory surgery visits were included. Using International Classification of Diseases, Ninth Revision codes and Current Procedural Terminology codes, we identified children with upper tract urolithiasis, spinal dysraphism, and spinal curvature. Data regarding demographics, prevalence, surgical procedures, costs related to stone procedures were extracted. RESULTS: A total of 11,987 patients had urolithiasis. Prevalence of stones in patients with normal spines was 0.24% compared with 1.40% and 4.03% among children with spinal curvature and spinal dysraphism, respectively (P<.001). Children with spinal curvature and spinal dysraphism were more likely to have multiple procedures for stones than those without spinal abnormalities (25% vs 25.7% vs 13.1%, P<.001). Costs per patient were significantly higher for children with spinal abnormalities compared with those with normal spines. CONCLUSION: Children with spinal curvature and spinal dysraphism have a much greater rate of upper tract urolithiasis, resulting in more procedures and related costs. Urolithiasis represents a significant, chronic health burden for children with spinal abnormalities. Screening and preventive care may reduce the impact of urolithiasis in these patients.

MRI of closed spinal dysraphisms.

We present a pictorial review of MRI features of various closed spinal dysraphisms based on previously described clinicoradiological classification of spinal dysraphisms proposed. The defining imaging features of each dysraphism type are highlighted and a diagnostic algorithm for closed spinal dysraphisms is suggested.

Espina bífida / Spinal dysraphism

Trastorno también llamado mielodisplasia, donde existe un desarrollo anormal de los huesos de la columna, de la médula espinal, del tejido nervioso circundante y de las meninges; y que ocurre aproximadamente entre los días 26 a 28 de la gestación. Se describen su etiología, clasificación, aspectos del diagnóstico prenatal, pronóstico y tratamiento, y prevención.(AU)

Espina bífida / Spinal dysraphism

Trastorno también llamado mielodisplasia, donde existe un desarrollo anormal de los huesos de la columna, de la médula espinal, del tejido nervioso circundante y de las meninges; y que ocurre aproximadamente entre los días 26 a 28 de la gestación. Se describen su etiología, clasificación, aspectos del diagnóstico prenatal, pronóstico y tratamiento, y prevención.

Myelomeningocele associated with split cord malformation type I -three case reports-.

Three neonates presented with split cord malformation (SCM) associated with myelomeningocele (MMC), complicated with various coexisting anomalies. All patients were female and classified as SCM type I. All patients had a syrinx located rostral to the SCM. One patient had hydrocephalus and Chiari malformation causing serious respiratory problems. Two patients had partial hypertrichosis located close to the MMC, suggesting association with SCM. One patient had sacral hypoplasty and right kidney agenesis, suggesting that some embryologic errors may affect not only neural but also mesodermal development. All patients underwent surgical treatment for SCM after detailed evaluation and management of concomitant anomalies, and developed no new neurological deficits. Delayed surgery is an alternative treatment strategy for SCM in patients with both SCM and MMC with similar complications.

Embryopathogenetic surgicoanatomical classification of dysraphism and surgical outcome of spinal lipoma: a nationwide multicenter cooperative study in Japan.

OBJECT: The natural history of asymptomatic spinal lipoma in infancy remains unclear, and the indication for the prophylactic untethering operation is still debatable. To address this question, a multicenter cooperative study for the treatment of spinal lipoma was performed by the 7 most active institutions in neurosurgical care for spina bifida in Japan between 2001 and 2005. METHODS: Patients were classified using the embryopathogenetic surgicoanatomical classification. Their neurosurgical postoperative course was analyzed using the Spina Bifida Neurological Scale. Among 261 patients, 159 were asymptomatic and 102 were symptomatic. RESULTS: Of the 136 patients for whom prophylactic surgeries were performed, 135 remained asymptomatic and only 1 (0.4%) of the 261 patients presented with mild sensory disturbance. Mild foot deformity was identified in 1 (4.3%) of 23 conservatively observed patients. Of 100 symptomatic patients, deterioration after surgery was seen in 6%, and improvement in 44%. Complete resolution of symptoms was seen in only 14.2%. Filar types for patients > 3 years old improved in Spina Bifida Neurological Scale scores from 12.3 to 14.0. The mean age of symptomatic patients with lipomyelomeningocele was the youngest of all (1.3 years), which indicates lipomyelomeningocele may deteriorate in early infancy. Improvements from surgery were seen for all types of lipoma except the caudal type, presenting at an older mean age (15 years). CONCLUSIONS: A low rate of postsurgical worsening indicates that surgeries for asymptomatic and symptomatic lipomas are safe. Surgeries done after the onset of symptoms seldom cure the patients. These two results support early untethering for any kind of lipoma; however, further study of the natural history is required.

Congenital spinal lipomatous malformations: part II--Clinical presentation, operative findings, and outcome.

BACKGROUND: To report this author's experience with patients with a congenital spinal lipomatous malformation with special emphasis on variations in clinical presentation, operative findings, and outcome based on the classification scheme proposed in the first part of this two part article. METHODS: From January 1995 to July 2005, 80 patients with a congenital spinal lipomatous malformation were treated. All patients underwent routine neurological examination, plain radiographs of the spine and all but 10 patients underwent MRI. Ten patients underwent CT-myelography. Hoffman's functional grading scale was used for preoperative and postoperative clinical assessment. The operative findings, complications and outcome were assessed. FINDINGS: Age ranged from 18 days to 19 years. The female: male ratio was 3:2. The malformations were divided into two groups: Group I: Lipomas without a dural defect and, Group II: Lipomas with a dural defect. Included in Group I were: 22 patients out of which there were Caudal lipomas: 10, Filum lipomas:11 and intramedullary lipoma: 1. In Group II there were 58 patients out of which there were Dorsal lipomas: 8, Caudal lipomas with dural defect: 8, Transitional lipomas: 10, lipomyelomeningoceles:28, lipomyeloceles: 4. Most of the group I patients were >5 years of age; cutaneous markers were absent in 60%, older children more often presented with sphincter disturbances. Surgery in group I was straight forward and consisted of sectioning of the filum in filum lipomas, debulking and untethering in caudal lipomas. Duroplasty was seldom required. CSF leak was rare. No patient deteriorated following surgery and no retethering was noted during follow-up. In Group II, all patients had cutaneous markers, most were <2 years of age, 19 were asymptomatic, older children had more severe neurological deficits. Duroplasty was required in most cases. A CSF leak occurred in 12%. Two patients deteriorated temporarily following surgery. Two patients presented with retethering 4 and 8 years after initial surgery. Improvement of more than one Hoffman's functional grade occurred when surgery was done <2 years of age. CONCLUSIONS: Congenital spinal lipomatous malformations do not constitute a single homogenous entity. They can be broadly classified into two groups depending on the presence or absence of a dural defect. These two groups are different from one another embryologically, clinically, surgically and prognostically.

Congenital spinal lipomatous malformations: part I--Classification.

BACKGROUND: Congenital spinal lipomatous malformations constitute a diverse group of lesions. There is considerable confusion in the literature regarding their terminology and a proper classification is long overdue. The first part of this two part report sets out a proposed classification scheme. METHODS: On the basis of this author's experience with 80 patients with a congenital spinal lipomatous malformation treated over a 10 year period, a new classification is proposed. The proposed classification divides congenital spinal lipomatous malformations into two broad groups: 1. Lipomas without dural defect and, 2. Lipomas with dural defect. Within each group, there are several subtypes. These two broad groups differ from one another in their embryology, clinical presentation, operative findings, complications and prognosis FINDINGS: Group I consists of Lipomas without dural defect. Included in this group are: Filum lipoma, caudal lipoma without dural defect, and intramedullary lipoma. Group II consists of lipomas with dural defect. Included in this group are: dorsal lipoma, caudal lipoma with dural defect, transitional lipoma, lipomyelocele, and lipomyelomeningocele. The definitions of the various subtypes and radiological and operative findings of all these lesions are described. CONCLUSIONS: Congenital spinal lipomatous malformations constitute a wide spectrum of lesions ranging from relatively simple lipomas of the filum terminale to complex malformations. These lesions differ from one another in their embryology, clinical presentation, operative strategies, complications and prognosis. Failure to differentiate between the different forms of congenital spinal lipomatous malformations may lead to inaccurate assumptions regarding prognosis and inappropriate management. The proposed classification seeks to address these issues.

Spinal sonography in newborns and infants - part II: spinal dysraphism and tethered cord.

UNLABELLED: Patients with cutaneous markers in the lumbo-sacral region as well as infants with bladder and bowel dysfunction, orthopedic anomalies and progressive neurological dysfunction are at risk for spinal dysraphism and tethered cord. Three types of spinal dysraphism can be distinguished: Type I - open spinal dysraphisms with a non-skin covered back mass; type II - closed spinal dysraphisms with a skin covered back mass; type III - occult spinal dysraphisms without a back mass. All spinal dysraphisms can be associated with a tethered cord, characterized by a low position of the conus medullaris below L3. Type I dysraphisms are meningomyeloceles and myeloceles, which are associated with CHIARI-II malformations characterized by the low position of the cerebellar vermis within the foramen magnum. Type II dysraphisms are lipomyeloceles, lipomyelomeningoceles, posterior meningoceles and myelocystoceles. Lipomeningoceles and lipomyelomeningoceles are characterized by a subcutaneous echogenic mass which communicates with the spinal canal and may cause tethered cord. Posterior meningoceles are, dorsal cystic space occupying lesions without internal neural tissue. Myelocystoceles are characterized by a cystic dorsal mass which communicates with a dilated central canal characteristic of syringo-hydromyelia. Type III dysraphisms without a back mass are frequently associated with cutaneous markers in the lumbo-sacral region. Sonographically dermal sinus tracts, diastematomyelia, tight filum and lipoma of the filum terminale and the caudal regression syndrome have to be distinguished. Dermal sinuses are characterized by an echogenic tract from the skin to the spinal canal, often associated with a spinal dermoid. Diastematomyelia is characterized by a complete or partial duplication of the spinal cord which can only be shown on axial images. Tight filum terminale or lipoma of the filum terminale is characterized by a thick echogenic filum with a diameter of more than 2 mm, and a conus below L3. CONCLUSION: All different forms of spinal dysraphisms and tethered cord can be diagnosed sonographically in the neonatal period as long as the spinal arches are not completely ossified.