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PubMed2001

Spinal lipomas.

Lipomas of the spinal cord are among the most fascinating lesions encountered by the pediatric neurosurgeon. An understanding of spinal lipomas may, however, be difficult because the terminology used to describe the accumulations of spinal fat is confusing, inconsistently applied, and at times contradictory. An anatomical characterization of lipomas may assist in understanding these lesions. Lipomas of the spinal cord are very rare and cause symptoms related to mass effect and secondary compressive myelopathy. Lipomas of the conus medullaris (or lipomyelomeningocele) are the most common form of fatty masses in the spine and can be divided into dorsal, caudal, and transitional forms. These lesions are a manifestation of occult spinal dysraphism and a common cause of the tethered cord syndrome (TCS). The natural history of untreated lipomyelomeningocele, although incompletely understood, appears to be progressive neurological deterioration with loss of bladder control. Timely, careful surgical intervention may prevent significant neurological deterioration and progressive disability in the majority of children harboring these lesions. In surgical intervention the surgeon seeks to disrupt the connection between the fibrofatty mass and underlying cord as well as to reestablish normal anatomical planes. Several intraoperative video segments illustrating lipomyelomeningocele resection are included in this paper. Lipomas of the terminal filum (fatty filum) are truly occult and are also associated with TCS. Surgical treatment of filum lipomas carries significantly lower risk than that for lipomas of the conus medullaris. Again, the goal of surgery is to disrupt the connection between the abnormal fibrofatty tissue and the underlying spinal cord.

Biomechanical Phenomena↗

PubMed2007

Uterus-like mass of müllerian origin in the lumbosacral region causing cord tethering. Report of two cases.

The presence of müllerian-origin tissue in the lumbosacral region is extremely uncommon. The authors report two cases of müllerian-origin tissue in that region. In the first case a 33-year-old woman harbored a conus medullaris mass lesion. Spinal dysraphism, tethered cord syndrome (TCS), and diastematomyelia were also present. In the second case a 24-year-old woman presented with low-back pain and a conus medullaris lesion, which was a cause of the TCS. Pathological examination in both cases revealed a uterus-like structure with evidence of fresh and old hemorrhage. The rarity of this lesion and its association with diastematomyelia requires documentation.

Adult↗

PubMed1996

Bladder wall pedicle wraparound sling for neurogenic urinary incontinence in children.

PURPOSE: To improve the results of current bladder neck reconstruction a modification was developed to provide tapering, circumferential compression and suspension of the bladder neck. MATERIALS AND METHODS: Nine female and 15 male patients with spinal dysraphism and incontinence, despite intermittent catheterization and pharmacotherapy, and low outlet resistance underwent surgery. The procedure involves wrapping a pedicle strip of anterior bladder wall around the bladder neck and suspending it to the pubic symphysis. RESULTS: All 9 girls are completely continent, whereas 10 boys are dry and 5 have stress incontinence after 9 to 14 months of followup. Subjective symptoms correlate with changes in leak point pressure. CONCLUSIONS: This technique is an efficacious addition to bladder augmentation in female patients with poor compliance and low outlet resistance.

Adolescent↗

PubMed2006

[Neurovesical dysfunction in children with anorectal malformations].

Chronic renal failure remain the most significant cause of morbidity and mortality in patients with anorectal malformation. The urological anomalies associated with anorectal malformations are not only anatomical, but also functional, the latter being related to congenital neurovesical dysfunction. The neurovesical dysfunction found in children with anorectal malformations results from a possible association with spinal dysraphism. The authors carried out urodynamic evaluation on 6 patients operated on for anorectal malformation by posterior sagittal anorectoplasty. 3 children had normal bladder function, but 3 had neurovesical dysfunction (1 unstable bladder, 2 neuropathic bladder). It is concluded that in patients with anorectal malformations urodynamic investigations should be performed as a routine investigation of the urinary tract. Consequently, patients with lower urinary tract dysfunction should receive prompt treatment, including clean intermittent catheterization, to prevent or reduce secondary urologic morbidity, especially loss of renal function.

Adolescent↗

PubMed2002

Language development in children with spina bifida.

Spina bifida meningomyelocele (SBM) is the most common severely disabling birth defect in North America. It is a disorder of the central nervous system that includes, in addition to the defining spinal dysraphism, congenital malformations of the cerebellum and corpus callosum that, along with hydrocephalus, produces a range of cognitive and motor difficulties, including language. In the language domain, many children with SBM demonstrate adequate development of language at the level of form and content (grammar and lexicon). However, most children with SBM experience significant difficulties in the construction of meaning and in pragmatic communication, both of which require flexible language processing in real time. Assessment and intervention should specifically attend to the development of meaning construction and semantic-pragmatic communication.

Child↗

PubMed1998

The resolution of syringohydromyelia without hindbrain herniation after posterior fossa decompression.

OBJECT: To provide more information about this rare condition, the authors describe five cases of syringohydromyelia without hindbrain herniation. Preoperative magnetic resonance imaging with and without gadolinium-diethylenetriamine pentaacetic acid revealed no evidence of spinal cord tumor, arachnoiditis, or spinal dysraphism. METHODS: Craniocervical decompression was performed in all patients, after which there was resolution of the symptoms in the four symptomatic patients, and all five showed marked reduction in the size of the syrinx. CONCLUSIONS: The authors hypothesize the rare occurrence of syringohydromyelia resulting from a Chiari-like pathophysiological condition but lacking a hindbrain hernia. Patients with this condition may benefit from craniocervical decompression.

Adolescent↗

PubMed2006

A case of split cord malformation associated with myeloschisis.

INTRODUCTION: Split cord malformation (SCM) associated with myeloschisis is a very rare form of spinal dysraphism. We encountered a case of SCM associated with myeloschisis showing split neural placodes (hemicords) in the upper lumbar region. RESULTS: Radiological examinations, including prenatal MRI and postnatal CT scan, clearly demonstrated a bony spur between the two hemicords as well as myeloschisis, which facilitated a precise preoperative diagnosis of this complex anomaly. Resection of the spur, closure of the myeloschisis, and untethering of the thickened filum terminale were successfully accomplished in one stage. The presence of SCM associated with myeloschisis is consistent with the hypothesis of an ontogenic basis of neural development, and we emphasize the importance of early imaging including prenatal MRI for diagnosing this complex anomaly.

Adult↗

PubMed1998

FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.

The Antley-Bixler syndrome (ABS) is a rare syndrome with synostosis of cranial sutures and elbow joints as minimal diagnostic criteria. The inheritance has been suggested to be autosomal recessive based on two families with sib recurrence with both sexes being affected, and two cases born to consanguineous parents. We report the first case of ABS associated with an apparent dominant de novo mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. The patient was found to be heterozygous for a C-->G transversion at nucleotide 1064, which predicts a Ser351Cys amino acid substitution in the IgIII domain of FGFR2. Apart from the craniosynostosis and elbow ankylosis, our patient also presented with severe spinal dysraphism, the first report of such a finding in association with ABS. This suggests that FGFR2 is expressed as early as the fourth week of embryogenesis when somite formation occurs. We propose that the Antley-Bixler syndrome is an autosomal dominant condition with possible gonadal mosaicism. Alternatively, there may be two types of ABS: an autosomal dominant form and an autosomal recessive form. In light of our findings, FGFR mutations should be looked for in other craniosynostosis patients with elbow synostosis.

Abnormalities, Multiple↗

PubMed1989

[Urodynamic and electrophysiologic studies in evaluating congenital neurogenic bladder].

We investigated 50 patients with a congenital neurogenic bladder secondary to myelomeningocele (38), sacral agenesis (5) and occult spinal dysraphism (7). There were 25 males and 25 females, aged from 1 month to 29 years (mean age at the time of evaluation was 9.2 years). Pressure-Flow-EMG study was obtained in every instance. In addition, 25 patients underwent electrophysiological testing (sacral reflex arc testing and somatosensory evoked potentials from the pudendal nerve). The patients were then classified according to the urodynamic and electrophysiological results. We allocated the patients into a "functional" classification as recommended by Van Gool. This classification is useful in the selection of proper therapy, and in the definition of the risks of upper tracts deterioration.

Adolescent↗

PubMed2003

How to investigate neurovesical dysfunction in children with anorectal malformations.

PURPOSE: Neurovesical dysfunction (NVD) is common in children with anorectal malformation (ARM). NVD is mainly related to tethered cord or iatrogenic injury but how to investigate it is still debated. We evaluate the usefulness of routine magnetic resonance imaging (MRI) and urodynamics (UDS) for ARM. MATERIALS AND METHODS: A total of 89 children were screened for sacral, spinal or urological anomalies using sacrum x-ray, MRI, renal and spinal ultrasound, uroflowmetry and/or 4-hour voiding observation. UDS was performed in 60 patients with suspected NVD. Mean +/- SD followup was 9.8 +/- 5.2 years. RESULTS: Of the 89 patients 29 presented with urinary tract anomalies. The prevalence of sacral (53 cases) and spinal cord (54) anomalies was no different between patients with low, intermediate and high ARM. Spinal cord tethering was present in 13 patients with a normal sacrum x-ray. NVD was found in 31 of the 89 patients (hyperreflexia 21 and hypo-areflexia 10), and was associated with sacral and spinal anomalies in 23, occult spinal dysraphism without bone lesion in 3 and sacral anomalies in 5. The incidence of NVD was 40% of cases with low and 51% with high ARM. CONCLUSIONS: Because tethered cord occurs in children without sacral anomalies as well as in those with low ARM, we recommend evaluation of all patients using MRI. When MRI is positive UDS should be performed. We agree with a previous suggestion to evaluate all males with rectourethral fistula and females with cloaca malformations. Finally we recommend a noninvasive evaluation for all other children and UDS when neurogenic dysfunction is suspected.

Adolescent↗

PubMed2002

The ultimate challenge of cloacal exstrophy.

PURPOSE: Our review addresses the various system abnormalities associated with cloacal exstrophy and revisits the question of gender assignment. Gender assignment decisions and psychological aspects of gender issues have become the "ultimate challenge." Exploration of gender identity, gender role behavior and sexual orientation has just begun. MATERIALS AND METHODS: A comprehensive literature review was performed with all world literature regarding the current management of cloacal exstrophy. Research focused on management principles, outcomes and documentation of concurrent anomalies. We also describe original research evaluating gender identity in our own series of patients raised as girls to illustrate the challenge of treatment and augment the available literature, which is scant. RESULTS: Abnormalities of the vertebral column ranged from hemivertebra to myelomeningocele. With magnetic resonance imaging, the incidence of spinal dysraphism approached 100% and cord tethering was also more frequently recognized. For children with the short bowel syndrome, advances in antibiotic usage, and parenteral and enteral nutrition have increased the survival rate and reduced morbidity. A neurological component has been recognized for bladder function, bladder neck continence, lower extremity function and erectile capacity. Mitrofanoff-type reconstruction with bladder neck closure and continent catheterizable stoma dramatically increased continence. Diminutive or absent penis has been documented in 30% of males, and no documentation of paternity exists. The majority of females have bicornuate uterus. However, ovaries and tubes were generally normal. No reports of proven fertility exist. CONCLUSIONS: The strategy and timing of surgery relating to gender assignment remain controversial. A desperate need exists for research focusing on gender development and quality of life. Until that time, a cautious watchful approach may be most appropriate as our patients with cloacal exstrophy mature into adulthood.

Abnormalities, Multiple↗

PubMed2006

Resection of a giant anterior sacral meningocele via an anterior approach: case report and review of literature.

BACKGROUND: An anterior sacral meningocele is a rare form of spinal dysraphism that is sometimes associated with syndromes such as Currarino and Marfan syndromes. These lesions rarely cause neurological complications, but meningitis, sepsis, obstetric problems, and bowel and bladder difficulties are common secondary conditions. The lesions can even be fatal. Because these lesions usually do not regress spontaneously, surgical treatment is the standard for symptomatic or growing masses. The dural defect can be repaired with a variety of anterior or posterior approaches. CASE DESCRIPTION: We present a case of a 16-year-old female patient with a giant nonsyndromic anterior sacral meningocele that we successfully treated using an open anterior approach. We discuss the treatment options and present a brief review of the literature. CONCLUSIONS: Although the posterior approach remains the treatment of choice for most lesions, we believe that the anterior laparotomy provides excellent exposure and is a safe alternative approach for the treatment of selected lesions. Patients with these lesions should be cared for by a multidisciplinary team.

Adolescent↗

PubMed2001

Clinical outcome differences for lipomyelomeningoceles, intraspinal lipomas, and lipomas of the filum terminale.

Failure to differentiate between the different types of lumbosacral lipomas may lead to inaccurate assumptions and inappropriate management of patients. The goal of this study was to determine whether there is a difference in clinical outcome between patients with lipomyelomeningocles, intraspinal lipomas, and lipomas of the filum terminale. One hundred and fourteen patients with spinal dysraphism were seen at Duke University Medical Center between 1995-1999. All patients who had undergone previous operative intervention for these lesions were excluded. Twenty-two patients with intradural lipomas were identified. Of these, 14 (64%) had lipomyelomeningoceles and 8 (36%) had intraspinal lipomas. Twenty-five patients had filum terminale lipomas. Operative management consisted of lumbosacral laminectomies with microsurgical resection of the lipoma and division of the fatty filum. Average age at presentation in symptomatic patients with lipomas of the filum terminale was 17.7 years, and 23 years in the symptomatic intraspinal lipoma group. Patients with lipomyelomeningoceles ranged in age from 1 day to 18 years, with the majority being younger than 2 years. After an average follow-up of 8 months all patients showed improvement in motor strength following operative intervention. Greater improvements in sensory, bladder, and pain scores were associated with filum terminale lipomas. The least improvements in these categories were seen in the lipomyelomeningocele group. Motor strength is the most likely deficit to improve following operative intervention. Lipomyelomeningoceles, intraspinal lipomas, and filum termniale lipomas have different clinical outcomes following operative intervention.

Adolescent↗

PubMed2006

A multicentre study of the management of disorders of defecation in patients with spina bifida.

Patients with spinal dysraphism may have severe constipation and faecal incontinence. The impact of antegrade colonic enema (ACE) in the management of patients with spina bifida (SB) is analysed. In a multicentre cross-sectional study, constipation, faecal incontinence and faecal management were described. Cases surgically treated were identified. Data were collected from 423 patients, of whom 230 did not use any manoeuvre or laxatives to assist evacuation. Conventional treatment was used in 193 patients, including digital extraction in 39%, retrograde enema in 21% and oral laxatives in 52%. For intractable constipation and overflow of faecal incontinence, 47 patients were treated with ACE, of whom 41 used the method at a mean time of interview of 4.1 +/- 1.9 years after ACE operation; six abandoned ACE for conventional management. With ACE, faecal continence was significantly improved compared with conventional management, and neither retrograde rectal enema nor digital extraction were required. The conduit was fashioned to the right colon in 32 cases and to the left colon in nine cases. This study provides information on a multicentre experience in bowel management in SB patients. Whatever the technique used, ACE has improved faecal status compared with conventional therapy.

Adolescent↗

PubMed2004

Neuropsychological profile of young adults with spina bifida with or without hydrocephalus.

OBJECTIVES: To determine the relative impact of hydrocephalus and spinal dysraphism in young adults on intellectual and cognitive functioning. Sub-groups of patients with congenital hydrocephalus and/or spina bifida were assessed between 1995 and 2003. The entry criteria were that individuals should have (i) intact global function, (ii) average verbal intelligence (or above), and (iii) should not have clinical depression. There were three sub-groups: patients with hydrocephalus and spina bifida, patients with hydrocephalus without spina bifida, and patients with spina bifida without hydrocephalus. METHODS: Patients were neuropsychologically assessed as part of their normal clinical assessment during their annual medical review. Each individual completed a screening battery assessing global functioning, verbal intelligence, and mood. In addition they completed additional tests including measures of emotional intelligence, memory, attention, and executive function. Results were analysed to compare the performance of the patient sub-groups and to compare them to a healthy control group. RESULTS: Patients with hydrocephalus (with or without spina bifida) were significantly impaired on the vast majority of all test scores as compared to patients with spina bifida and healthy controls. They were particularly poor on measures assessing executive function. By contrast for patients with spina bifida with no associated hydrocephalus, the significant majority of all test scores fell within the average range or above. CONCLUSIONS: The neuropsychological profile of patients with hydrocephalus is one of relative impairment and this is so whether or not spina bifida is present. In spina bifida alone, in the absence of hydrocephalus, cognitive function is relatively spared.

Adult↗

PubMed2002

Occurrence of split cord malformation in meningomyelocele: complex spina bifida.

OBJECTIVE: To describe the clinical features and surgical outcome of a combined anomaly, i.e. split cord malformation (SCM) with meningomyelocele (MMC), and to propose an addition to Pang's classification of SCM to accommodate a combined form of anomaly. METHODS: We retrospectively analyzed 16 cases of such a combination, out of a total of 106 cases of spinal dysraphism treated and studied prospectively for outcome at our center. The clinical profile and outcome of these cases are described. RESULTS: All cases had SCM and MMC. Nine patients were males, and the mean age of presentation was 3.9 years. Twelve patients had Pang's type I SCM and the other 4 were of type II. The MMC sac was lumbar in 11 cases. In all the patients, SCM was present either at the same level as the MMC or one to two segments above it. Nine patients had motor weakness, 6 had hypoesthesia, 4 had urinary incontinence and 3 had trophic ulcers. Nine patients had neuroorthopedic syndrome. All cases, except 3 (who were operated on at birth, at which time 'superficial surgery' was performed without relevant imaging), underwent repair of the MMC and excision of the spur/septum at the same sitting. The 3 cases who had undergone superficial surgery, however, were operated on for SCM following investigation at our center, obviously at a second sitting. After an average follow-up of 7.2 months, 4 patients showed improvement in motor weakness, 5 in hypoesthesia and 3 in urinary symptoms, whereas trophic ulcers had healed in all cases. CONCLUSION: With respect to the occurrence of SCM at or above the level of an MMC, we feel it is apt to screen the entire spinal/neuraxis by MRI in children with MMC. We labeled this combined pathology 'complex spina bifida', and feel it is necessary to make a minor modification to Pang's classification to accommodate the pure/combined anomalies together.

Abnormalities, Multiple↗

PubMed2003

Spinal congenital dermal sinuses: a 30-year experience.

OBJECTIVE: Dermal sinus tracts are an uncommon form of spinal dysraphism often presenting in childhood with skin findings, neurologic deficit, or infection. We reviewed our surgical experience, examining presenting symptomatology, operative findings, and patient outcomes. METHODS: A retrospective analysis of operated dermal sinus tract cases by the senior author (A.H.M.) from 1970 to present was made. RESULTS: Twenty-eight patients were identified; 17 female and 11 male. Five cervical, 4 thoracic, 9 lumbar, and 9 lumbosacral tracts were explored. Sixteen patients presented at <1 year of age, and 12 were >1 year. Reasons for referral included cutaneous findings (15), neurologic deficit (8), foot abnormalities (4), infection (3), pain (2), and scoliosis (1). Our initial examination revealed cutaneous findings (eg, sinus ostea, pigmentation changes, erythema, skin tags, subcutaneous masses) in 27 patients and neurologic deficit in 19. Age-related differences were apparent. Patients >1 year were more likely to have neurologic deficit (92%) as compared with those <1 year (50%). Bifid spinous processes were noted at dural tract entry in 17 patients. Twenty-two tethered cords, 14 inclusion tumors, and 6 patients with evidence of arachnoiditis were found intraoperatively. Mean follow-up was 33 months. Eleven (39%) remained neurologically intact, 12 (43%) improved, 2 (7%) were unchanged, and 3 (11%) were worse with 2 having decreased perianal sensation and 1 slightly worsened motor function postoperatively. CONCLUSIONS: Although most patients were referred for cutaneous stigmata evaluation, >50% had neurologic deficit, intradural tumors, or tethered cords. Skin findings identification should initiate prompt radiologic evaluation and neurosurgical intervention with intradural exploration. Timely intervention may preserve or improve neurologic function in these patients.

Adolescent↗

PubMed1977

The results of conservative management of neurogenic vesical dysfunction in children.

Ninety-three cases of neurogenic vesical dysfunction were treated between 1957 and 1974, including 68 children with spina bifida, 10 with occult neurogenic bladders, 7 with sacral agenesis, 2 with spinal dysraphism, and 6 with miscellaneous disorders. No attempt at classification into types of neurogenic bladder was made. Three children in the series died, two from renal causes and one from neurosurgical complications. Treatment consisted of antireflux surgery, methods to lower bladder outlet resistance, operations to relieve obstruction or stasis, or urinary diversion as a last resort. Ureteral reimplantation was performed in 25 children. Reflux was cured in 29 of the 34 ureters reimplanted. Bilateral ureteral reimplantation is recommended because of the subsequent development of vesicoureteral reflux on the opposite side in more than half of the cases of unilateral ureteral reimplantation. Bladder outlet resistance must be lowered in most cases at the time of ureteral reimplantation. This was accomplished in these cases and the group of children as a whole by means of Y-V plasty of the bladder neck, transurethral bladder neck resection, urethral dilation, or pharmacological therapy with phenoxybenzamine (an alpha-symphathetic blocking agent). Urinary calculi were removed in six children in order to preserve renal function. Fifteen children underwent urinary diversion becuase of upper tract deterioration, and in eight children this was performed primarily for urinary incontinence. With conservative treatment, it was possible to preserve renal function as determined by intravenous urography in nearly two-thirds of the cases. Urinary incontinence was difficult to manage in most cases. Manipulations of the bladder neck were only occasionally helpful. Results with the Caldwell stimulator were disappointing. Pharmacological therapy was moderately successful. Phenoxybenzamine was the most useful drug. Imipramine was occasionally of benefit. It is concluded that the upper urinary tracts may be preserved in many cases by means of conservative therapy. Urinary diversion has been avoided in most cases because of its disappointing results. We believe that the trend will be towards increasingly conservative therapy of these children for some years to come.

Child↗