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.

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.

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.

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.

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.

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.

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.

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.

Magnetic resonance imaging of spinal dysraphism.

Spinal cord development occurs through three consecutive periods. Gastrulation (weeks 2-3) is characterized by conversion of the embryonic disk from a bilaminar to a trilaminar arrangement and establishment of a notochord. Primary neurulation (weeks 3-4) produces the uppermost nine tenths of the spinal cord. Secondary neurulation and retrogressive differentiation (weeks 5-6) result in formation of the conus tip and filum terminale. Defects in these early embryonic stages produce spinal dysraphisms, which are characterized by anomalous differentiation and fusion of dorsal midline structures. Spinal dysraphisms may be categorized clinically into two subsets. In open spinal dysraphisms, the placode (non-neurulated neural tissue) is exposed to the environment. These disorders include myelomeningocele, myeloschisis, hemimyelomeningocele, and hemimyelocele, and are always associated with a Chiari II malformation. Closed spinal dysraphisms are covered by intact skin, although cutaneous stigmata usually indicate their presence. Two subsets may be identified based on whether a subcutaneous mass is present in the low back. Closed spinal dysraphisms with mass comprise lipomyeloschisis, lipomyelomeningocele, meningocele, and myelocystocele. Closed spinal dysraphisms without mass comprise complex dysraphic states (ranging from complete dorsal enteric fistula to neurenteric cysts, split cord malformations, dermal sinuses, caudal regression, and spinal segmental dysgenesis), bony spina bifida, tight filum terminale, filar and intradural lipomas, and persistent terminal ventricle. Magnetic resonance imaging is the imaging method of choice for investigation of this complex group of disorders.

Spinal and cranial neural tube defects.

Developmental lesions of the central nervous system with failure of normal midline fusion are often referred to as being dysraphic and vary from inapparent and insignificant to a massive deformity incompatible with survival. Several different schemata are used to classify this wide variety and often complex set of malformations; however, the nomenclature is confusing and even contradictory. As most of these congenital lesions of clinical significance involve an aberration in the formation of the neural tube, it is suggested that the term neural tube defects (NTD) be used to characterize this entire group of anomalies. From a practical clinical standpoint, NTD can be subdivided into three main groupings: open spinal NTD, closed spinal NTD, and cranial NTD. This article briefly covers the epidemiology, embryology, classification, clinical presentation, and management of this group of congenital lesions.

Spinal ultrasound in infants.

This paper discusses the indications for spinal ultrasound, including its advantages and disadvantages compared with spinal MRI. The features and ultrasound findings both in normal infants and in those with spinal dysraphism are reviewed.

Pediatric neurosurgical disease.

The most common, primary referrals to a pediatric neurosurgeon's office are the evaluation and management of the child with a large head (to rule out hydrocephalus and other space occupying lesions) a mishappen head (to rule out various forms of craniosynostosis), or some form of congenital spinal abnormality (spinal dysraphism). The authors discuss the pathogenesis and clinical features of these disorders, provide a framework for diagnostic evaluation and referral, and discuss the various treatment options available for each.

Follow-up of spina bifida children with and without upper renal tract changes at birth.

The aim of this study was to assess 2 groups of children with spina bifida; one with and the other without upper renal tract (URT) changes at birth and to evaluate the outcome of their management. In Group 1, there were 148 patients who had normal URT at birth. They were studied for a mean follow-up of 131 months. Twenty-eight per cent developed URT changes in later life. The median time interval for URT changes to develop between birth and the first assessment which showed abnormal finding, was 33 months and between the last normal URT assessment and the development of URT changes, was 16 months. Six patients with URT changes were treated conservatively and 36 required intervention. Twenty-eight of 42 patients showed initial improvement of URT changes but 25 subsequently deteriorated. In 3 patients renal function deteriorated with renal failure in one and renal impairment in 2. In Group 2, 24 patients who had URT changes present at birth were also studied for a mean follow-up of 115 months. The URT changes in 8 patients deteriorated after the initial assessment over a median time of 15 months. Twelve patients' URT changes improved spontaneously without active intervention over a median time interval of 16 months but 5 subsequently deteriorated. Overall, the prognosis of children with URT changes at birth did not seem to be any worse than children developing changes later in life. Lesions of sacral and thoraco-lumbar regions of the spine were most commonly associated with URT changes.(ABSTRACT TRUNCATED AT 250 WORDS)

Spinal dysraphism: MR imaging rationale.

Spinal cord development occurs through the three consecutive periods of gastrulation (weeks 2-3), primary neurulation (weeks 3-4), and secondary neurulation (weeks 5-6). Spinal cord malformations derive from defects in these early embryonic stages, and are collectively called spinal dysraphisms. Spinal dysraphisms may be categorized clinically into open and closed, based on whether the abnormal nervous tissue is exposed to the environment or covered by skin. Open spinal dysraphisms include myelomeningocele and other rare abnormalities such as myelocele, hemimyelomeningocele, and hemimyelocele, and are always associated with a Chiari II malformation. Closed spinal dysraphisms are further divided into two subsets based on whether a subcutaneous mass is present in the low back. Closed spinal dysraphisms with mass comprise lipomyelocele, lipomyelomeningocele, meningocele, and myelocystocele. Closed spinal dysraphisms without mass comprise simple dysraphic states (tight filum terminale, filar and intradural lipomas, persistent terminal ventricle, and dermal sinuses) and complex dysraphic states. The latter category involves abnormal notochordal development, either in the form of failed midline integration (ranging from complete dorsal enteric fistula to neurenteric cysts and diastematomyelia) or of segmental agenesis (caudal agenesis and spinal segmental dysgenesis). Magnetic resonance imaging is the imaging modality of choice for evaluation of this complex group of disorders.

Spina bifida.

Spina bifida is the most common central nervous system birth defect encountered by the pediatric neurosurgeon. It is defined by characteristic development abnormalities of the vertebrae and spinal cord and associated changes in the cerebrum, brainstem and peripheral nerves. The expression of spina bifida encompasses the entire central nervous system, ranging in severity from merely an absent spinous process with normal intraspinal structures to the other extreme of myelomeningocoele, Chiari malformation, hydrocephalus, and cortical cytoarchitectural changes. Most children with myelomeningocoele have some degree of weakness of their lower extremities and many have significant orthopaedic problems. As a result of denervation, muscle imbalance ensues and can result in abnormalities at the hip, knee and foot. Anesthesia of various portions of the skin can lead to pressure sores, particularly later in life. Anorectal neuropathy may cause a variety of defecatory dysfunctions. Urologic abnormalities are also common. These multisystem abnormalities associated with spina bifida contribute to its widely accepted identity as the most complex development defect compatible with long life.

Rehabilitation of patients with spina bifida.

Patients with spina bifida present with multifarious problems requiring multi-disciplinary approach for their rehabilitation. 172 patients of spina bifida attending the Department of Physical Medicine and Rehabilitation at A.I.I.M.S., New Delhi, were studied retrospectively to ascertain the problems posed by them while presenting for rehabilitation. Male:female ratio was 1.23:1. Lumbo-sacral lesion comprised 41.3% followed by lumbar (26.1%) and sacral (22.1%). Common spinal deformities observed were Kyphoscoliosis (62.2%) and increased lumbar lordosis (19.2%). Clinically, active signs and symptoms of hydrocephalus were found in 47.7% associated with mental subnormality in 22.1%. Varying degrees of weakness of the muscles of lower limbs were detected in 98.3% cases, spasticity was found in 10.5% and ataxia in 2.9%. Improvement of muscle power was noticed in 45.3% during first three years and deterioration in 10.5% due to various complications. Foot deformities were commonest amongst deformities. Mobility was affected in 55.8% while 62.2% could attain independence. Bladder symptoms were present in 75% cases and bowel symptoms in 26.7%. Anxiety and guilt amongst parents was high in the families. Main hindering factors in vocational rehabilitation were bladder control, ambulation and pressure sores.