Robin M. Bowman

Spina bifida outcome: A 25-year prospective

Background: Open spina bifida is the most complex congenital abnormality compatible with long-term survival. This report outlines the 20- to 25-year outcome for our original cohort of patients with a myelomeningocele treated in a nonselective, prospective manner. Methods: Of the initial 118 children, 71 patients were available for our most recent review. Nineteen patients have been lost to follow-up and 28 patients have died. Data were collected on: motor level, shunt status, education/employment, seizure history, mobility, bladder/bowel continence, tethered cord, scoliosis, latex allergy, posterior cervical decompression, tracheostomy and/or gastrostomy tube. Results: Mortality (24%) continues to climb into young adulthood. Eighty-six percent of the cohort have cerebrospinal fluid diversion, with 95% having undergone at least one shunt revision. Thirty-two percent have undergone a tethered cord release, with 97% having an improvement or stabilization in their preoperative symptoms. Forty-nine percent have scoliosis, with 43% eventually requiring a spinal fusion. Sixteen patients (23%) have had at least one seizure. Eighty-five percent are attending or have graduated from high school and/or college. More than 80% of young adults have social bladder continence. Approximately 1/3 of patients are allergic to latex, with 6 patients having experienced a life-threatening reaction. Conclusion: At least 75% of children born with a myelomeningocele can be expected to reach their early adult years. Late deterioration is common. One of the greatest challenges in medicine today is establishing a network of care for these adults with spina bifida.

Craniopharyngiomas in children: Surgical experience at Children's Memorial Hospital

ObjectivesCraniopharyngioma during childhood poses difficulty in management because of the high incidence of surgical complications and treatment failure. In order to identify less detrimental and more effective treatment, a personal series of craniopharyngioma was reviewed in regard to various clinical factors, patient factors (age and sex), tumor factors (location and extension, relationship with chiasm, and hydrocephalus), and therapeutic modes [extent of resection and radiation therapy (RT)].Materials and methodsFifty-four childhood craniopharyngiomas treated from 1984 to 2003 were reviewed. Preoperative neuroimaging studies were classified depending upon tumor location and extension. In this series of 54 patients, 43 had total tumor resection and 11 had subtotal resection. Of the total resection group, ten showed evidence of residual tumor on postoperative neuroimaging studies. Following the initial resection, 46 did not have RT whereas 8 with subtotal resection received RT.ResultsThere were no surgical deaths. Postoperative complications included pseudoaneurysm in 1, hemiparesis in 3, severe obesity in 5, panhypopituitarism in 50, and worsening of visual function in 7. During follow-up ranging from 12 months to 21 years, 24 patients had recurrence. Of the 33 patients with radiographic total resection, 9 (27.3%) had recurrence. Among the patients with total resection but radiographic residual and those with subtotal resection, the craniopharyngioma recurred in 90% and 100%, respectively. Three (37.5%) of eight patients with subtotal resection with RT had recurrence. Overall recurrence-free survival was 62% at 5 years and 49% at 10 years. The sex and age, location and extension of the tumor, nature of the optic chiasm, and hydrocephalus did not influence survival with statistical significance. However, the extent of surgical resection and use of RT showed significant differences for survival. Patients with total resection had a recurrence-free survival rate of 83% and 70% at 5 and 10 years, respectively. Patients with subtotal resection with RT had 71% at 5 years and 36% at 10 years. Patients who had subtotal resection or radiographically residual tumor without RT had a recurrence-free survival rate of only 9%. Among 22 patients whose recurrent tumor was treated with RT, a second recurrence-free survival rate was 90% at 5 years.ConclusionTotal resection provided the best outcome. However, recurrence rates and surgical complications remained high following radical tumor resection. RT was effective for recurrent tumors and should be considered being the primary treatment for recurrences or difficult tumors, which are not amenable to total resections.

The fiberoptic intraparenchymal cerebral pressure monitor in 244 patients

BACKGROUND The fiberoptic intraparenchymal pressure monitor has been shown to provide reliable data in patients monitored for a short period of time. An analysis of a large population, including patients monitored for a prolonged period such as weeks, has never been performed. METHODS We conducted a retrospective study in which we evaluated the fiberoptic intraparenchymal cerebral pressure monitor for complications and accuracy. RESULTS The fiberoptic intraparenchymal cerebral pressure (ICP) monitor was used in 244 patients since 1988. Pathology included trauma in 180, intracerebral hemorrhage (ICH) in 19, aneurysmal subarachnoid hemorrhage in 16, arteriovenous malformations in 10, cerebral edema in 12, and tumor in 7. The mean length of monitoring was 7 days with 49 patients (20%) monitored 1-2 days, 105 (43%) monitored 3-6 days, 48 monitored for 7-10 days (20%), and 42 (17%) monitored from 10-24 days. Seventy-four patients also had ventriculostomies and there was strong correlation with the ICP monitor (p < 0.001). Complications from insertion were 2 patients (0.8%) with ICH, both with hepatic dysfunction. In the group monitored greater than 6 days, 34 patients (38%) required at least one catheter change due to upward drift of the ICP. Fiberoptic breakage requiring replacement was documented in 41 patients (16%). An insertion-site infection occurred in one case monitored for 23 days. Two infected bone flaps occurred that had a monitor placed in the flap. There were no cases of bacterial meningitis or cerebral abscess. CONCLUSIONS The monitor is easy, safe, and reliable to use with a very low rate of infection. Coagulopathic patients may best be monitored by an alternative method.

Long-term Follow-up of Pediatric Benign Cerebellar Astrocytomas

BACKGROUND The long-term prognosis of cerebellar astrocytomas needs to be reviewed. OBJECTIVE To elucidate the factors influencing tumor recurrence or progression and to determine how long these patient with cerebellar astrocytomas require surveillance with neuroimaging. METHODS A retrospective review of 101 children surgically treated for a cerebellar astrocytoma and followed up for > 10 years was performed. RESULTS Mean follow-up was 18.4 years. Total resection confirmed by postoperative imaging was performed in 51 patients (50.5%; group A). Twenty-three patients (22.8%) had surgical total resection; however, equivocal residual tumor was found on postoperative imaging (group B). Subtotal resection leaving a portion of brainstem or cerebellar peduncle was performed in 27 patients (26.7; group C). Of these 50 residual tumors, 16 (32%) showed spontaneous regression and 8 (16%) showed arrested growth. Radiographic recurrence or progression was noted in 29 patients (28.7%). Only 3 of 51 patients (5.9%) of group A with total resection had recurrence, whereas 26 of 50 residual tumors (52%; groups B and C) progressed. The only factor affecting recurrence or progression by multivariate analysis was the extent of surgical resection. All tumor recurrence or progression except for 1 (96.6%) occurred within 8 years from the original surgery (range, 2-132 months). CONCLUSIONS Overall prognosis of cerebellar astrocytomas is good; the 10-year survival rate was 100% and recurrence- or progression-free rate was 71.3% in our cohort. Almost half of residual tumors showed spontaneous regression or arrested growth in the long term. Eight to 10 years is considered to be a reasonable follow-up period by neuroimaging.

Neurosurgical management of spina bifida: Research issues

The neurosurgical goal when treating children with spina bifida (predominantly myelomeningocele) is to maintain stable neurological functioning throughout the patients life time. Unfortunately, few long-term outcome studies are available to help direct the neurosurgical care of a child born with myelomeningocele and often treatment relies more heavily upon the experience of senior practitioners. This article reviews the current literature regarding neurosurgical treatment strategies, with recommendations concerning including prenatal diagnosis, in utero treatment and delivery modes, and postnatal management. Given the overall declining prevalence of open neural tube defects world-wide, research collaboration amongst practitioners through multicenter trial are essential to improving the lives of people born with this most complex congenital anomaly.

Choroid plexus tumors in pediatric patients.

Abstract Objective. Choroid plexus tumors are rare intraventricular tumors, accounting for less than 1% of all intracranial tumors and 2–4% of brain tumors in children. The authors present their experience in the management of these lesions, and a review of the literature is performed. Methods. We retrospectively analyzed the outcome of pediatric patients with choroid plexus tumors treated with surgical resection. The patients’ charts were reviewed for demographic data, clinical presentation, surgical therapy and follow-up. Results. This study involves 18 consecutive choroid plexus tumors: 14 papillomas, 2 atypical papillomas and 2 carcinomas. The tumor was located in the lateral ventricles (12), the fourth ventricle (4) and the third ventricle (2). The mean age at presentation was 4.6 years. Surgical resection was performed in all cases and no patients died perioperatively. Survival rate of papilloma patients was 100% without evidence of recurrent disease (mean follow-up for 73 months). Survival rate of carcinoma patients was 50% (mean follow-up for 23.5 months). One carcinoma patient died of disseminated disease 13 months after surgery. The functional outcome in long-term survivors after papilloma surgery was excellent. Postoperative extraventricular drainage (EVD) was performed in 12 patients. Five patients (27.8%) had persistent hydrocephalus after tumor resection and required a ventriculoperitoneal shunt. Conclusion. Choroid plexus papilloma is a surgically curable disease. Postoperative EVD was considered effective in lowering the rate of shunt requirement through releasing the blood-tinged CSF and small particles of tumor residue.

Autosomal dominant occipital cephalocele.

The authors report the clinical and radiographic characteristics of a non-consanguineous Vietnamese kindred with an autosomal dominant form of occipital cephalocele. Affected family members all presented with occipital subscalp bulges at birth. Except for the proband, all individuals were developmentally normal with otherwise normal neurologic examinations. Unaffected family members, including obligate carriers, share no clinical characteristics, demonstrating incomplete penetrance.

Predictors of urinary continence following tethered cord release in children with occult spinal dysraphism

OBJECTIVE Children with occult spinal dysraphism represent a wide spectrum of patients. Previous studies assessing urologic outcomes have in part been deficient due to the inability to appropriately categorize these patients and gather long-term follow-up data. In this study, a uniform set of patients that had occult spinal dysraphism with magnetic resonance imaging findings of a fatty filum terminale (FF) and/or low-lying cord (LLC) was identified. Utilizing long-term follow-up data, predictors for achieving urinary continence following tethered cord release (TCR) were determined. METHODS A retrospective chart review of pediatric patients with a diagnosis of tethered cord who underwent TCR from 1995 to 2005 was performed. Analysis was limited to patients who had primary TCR by one of two neurosurgeons within our multidisciplinary spina bifida clinic, who had greater than 1-year follow-up, and who were old enough to have continence status assessed (age > 6 years unless definitively toilet trained earlier). Patients with other associated forms of spinal dysraphism (lipomyelomeningeocele, spinal lipomas, sacral agenesis), anorectal malformations, and genitourinary anomalies were excluded. Pre- and post-TCR urodynamics, radiographic studies, functional orthopedic status, and urologic outcomes were assessed. Urodynamic results were categorized by three blinded urologists into one of three urodynamic patterns: (1) normal, (2) indeterminate, and (3) high risk. RESULTS A total of 147 patients with FF and/or LLC that underwent TCR were reviewed. 51 patients were excluded because of another associated spinal dysraphism (15/51 patients) or an anorectal/genitourinary anomaly (36/51 patients). Fifty-nine of the remaining 96 patients had adequate long-term follow-up data to be included in the study. 20 patients were asymptomatic at the time of TCR while 39 presented with orthopedic and/or urologic symptoms. The average age at surgery was 59.3 months (range 2-277 months) with an average follow-up of 7.0 years (range 1-16 years). At latest follow-up, 47 (80%) patients were continent while 12 (20%) were either incontinent or utilizing clean intermittent catheterization (CIC). Statistical analysis revealed that age of untethering, type of cutaneous lesion, level of conus, presence of hydronephrosis, and high-grade vesicoureteral reflux (VUR) were not independent predictors of continence. In patients with a cutaneous lesion who were asymptomatic, 19/20 obtained continence post-TCR (*p = 0.036). In patients who were old enough to assess continence pre-TCR, 14/25 patients were continent pre-TCR and 11/25 were incontinent. Of the 14 who were continent pre-TCR, all remained continent post-TCR (*p = 0.002). Of the 11 who were incontinent pre-TCR, five (45%) eventually became continent post-TCR. Assessment of urodynamic data revealed that neither pre- nor post-TCR urodynamics predicted continence status. CONCLUSION Isolated cutaneous lesions and preoperative continence status are positive predictors for post-TCR continence. While pre- and post-TCR urodynamics do not predict continence status, their utility in preoperative work-up, monitoring for retethering, and long-term urologic follow-up requires further examination.

The genetics of tethered cord syndrome.

Historically, very few studies have addressed a genetic cause of tethered cord syndrome (TCS), and most such studies have been individual case reports [Roume et al., 1990; de Toni et al., 1993; Motohashi et al., 1993; Helali et al., 1996; Salihu et al., 1997; Graham et al., 1998; Nowaczyk et al., 1998; Ragan et al., 1999; Campbell et al., 2002; Tiranti et al., 2004; Tubbs and Oakes, 2004; Tubbs et al., 2004]. In the last few years, mutations of the HLXB9 gene have been found in 23 individuals with Currarino triad (anal abnormalities, anterior meningocele, and sacral abnormalities, OMIM 176450). Fourteen of these patients had TCS, and four of these patients had TCS in the absence of any other neural tube defects (NTDs). All 23 HLXB9 mutant patients had vertebral abnormalities and many patients also had anal abnormalities [Ross et al., 1998; Belloni et al., 2000; Hagan et al., 2000; Lynch et al., 2000; Kochling et al., 2001;Riebel et al., 2004].Micewithmutation of a different homeobox gene, HOXB13, also have defects of secondary neurulation, with low-lying and abnormal spinal cord and abnormally shaped vertebrae [Economides et al., 2003]. Microscopic examination of the distal spinal cord in these mice shows changes nearly identical to that seen in specimens from patients after filar clipping. We have cared for four families in which two or more relatives had isolated TCS. The previous studies, identifying associations betweenTCSand syndromeswith known or presumed genetic etiologies, combinedwith the recent findings in human HLXB9andmurineHOXB13mutants, suggested that inmany cases TCS may have a genetic basis. A related hypothesis is that secondary neurulation is regulated by particular sets of genes, which may be distinct from the genes involved in primary neurulation. To begin to test these hypotheses, we prospectively gathered blood samples from33 sporadic cases of TCSand two sibs (male twins)withTCS. In order to specifically address genes involved in TCS and secondary neurulation, we did not include any samples frompatientswith otherNTDs (i.e., defects of primary neurulation). The exons of theHLXB9andHOXB13genes, and the intron-exon boundaries were sequenced for all 33 patients. No mutations changing the coding sequence were identified in either HOXB13 and HLXB9 (PCR primers and conditions available on request). Thus, in our patients, mutations of the HLXB9 or HOXB13 coding sequences do not contribute to the etiology of TCS. While the number is small, it is the largest population of sporadic TCS patients analyzed to date. Although we did not find evidence of mutations in these homeobox genes, the previous case reports suggest that TCS maybepresent in certain syndromes in someof ourpatients.To test this hypothesis, we obtained IRB approval to perform a retrospective chart review examining the clinical, pathological, and image findings of all patients with isolated TCS. For this analysis, we excluded all patientswhosemothers had anticonvulsant exposure, advancedmaternal age (>36), or diabetes during pregnancy. Patients with any defect in primary neurulation were also excluded. The inclusion criteria required both a clinical diagnosis of TCS made at our center and MRI or pathological evidence of TCS associated abnormalities (lowlying conus, fatty filum, or pathologic changes consistent with TCS filar biopsies). Two hundred fifty-six patients met criteria for the study. We then identified all eligible patients who had chromosomal abnormalities or genetic syndromes. Twenty-six patients met these criteria. Only five patients had syndromes previously associated with TCS (two with VATER, one with VACTERL, onewithCHARGE, and onewithChiari I). Twentyonepatientshad conditionsnot previously associatedwithTCS (Table I). Figure 1 illustrates representative MRIs.

Intracranial vertebral artery dissection with subarachnoid hemorrhage following child abuse

Child abuse is often suspected based on particular patterns of injury. We report a case of intracranial vertebral artery dissection with subarachnoid hemorrhage (SAH) in a 3-month-old boy following child abuse. The mechanisms of injury and the clinical and imaging findings are discussed. This particular pattern of injury has rarely been reported in association with child abuse. We hope to raise physician awareness of child abuse when faced with these imaging findings.