Moyamoya disease, a known cause of pediatric stroke, is an unremitting cerebrovascular occlusive disorder of unknown etiology that can lead to devastating, permanent neurological disability if left untreated. It is characterized by progressive stenosis of the intracranial internal carotid arteries and their distal branches and the nearly simultaneous appearance of basal arterial collateral vessels that vascularize hypoperfused brain distal to the occluded vessels. Moyamoya disease may be idiopathic or may occur in association with other syndromes. Most children with moyamoya disease present with recurrent transient ischemic attacks or strokes. Although there is no definitive medical treatment, numerous direct and indirect revascularization procedures have been used to improve the compromised cerebral circulation, with outcomes varying according to procedure type. Such techniques improve the long-term outcome of patients with both idiopathic and syndrome-associated moyamoya disease. This review provides a comprehensive discussion of moyamoya disease in children, with an emphasis on the most effective surgical treatment options.
Jodi L. Smith
Report of 2 cases
Jodi L. Smith and Laurie L. Ackerman
Previous studies have shown that the correct use of car safety seats can protect infants and children from vehicular injury. Although child passenger devices are increasingly used in the US, motor vehicle crashes continue to be the leading cause of death and acquired disability in infants and children younger than 14 years of age. These events are likely related, at least in part, to the high percentage of children who are unrestrained or improperly restrained. The authors present 2 cases of severe cervical spine trauma in young children restrained in car safety seats during a motor vehicle crash: 1) a previously healthy 14-month-old girl who was improperly restrained in a forward-facing booster seat secured to the vehicle by a lap belt, and 2) a previously healthy 30-month-old girl who was a rear seat passenger restrained in a car safety seat. This study points out the unique challenges encountered in treating cervical spine injuries in infants and young children, as well as the lessons learned, and emphasizes the significance of continuing efforts to increase family and public awareness regarding the importance of appropriate child safety seat selection and use.
Philip S. Smucker and Jodi L. Smith
✓ The authors present the case of a 2.5-year-old African-American boy with desmoplastic medulloblastoma (MB) and nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, an autosomal dominant disorder resulting from mutations in the patched (PTCH) gene that predisposes to neoplasias (including basal cell carcinomas [BCCs] and MB) and to widespread congenital malformations. The diagnosis of NBCCS was suspected based on the clinical examination, patient and family medical histories, and histopathological characteristics of the tumor. Radio-therapy was withheld. The diagnosis of NBCCS was confirmed by DNA testing, which revealed a novel mutation in the PTCH gene. This is the first report of an African-American child with MB diagnosed with NBCCS prior to radio-therapy.
Although only a small number of patients with MB have NBCCS, the diagnosis must be considered because radio-therapy in such patients can lead to the formation of BCCs and other intracranial neoplasms within the irradiated field. This case emphasizes the importance of obtaining thorough family and patient medical histories and of carefully examining the patient and close relatives for signs of NBCCS to avoid the potentially devastating consequences of missing this diagnosis.
Andrea G. Scherer, Ian K. White, Kashif A. Shaikh, Jodi L. Smith, Laurie L. Ackerman and Daniel H. Fulkerson
The risk of venous thromboembolism (VTE) from deep venous thrombosis (DVT) is significant in neurosurgical patients. VTE is considered a leading cause of preventable hospital deaths and preventing DVT is a closely monitored quality metric, often tied to accreditation, hospital ratings, and reimbursement. Adult protocols include prophylaxis with anticoagulant medications. Children’s hospitals may adopt adult protocols, although the incidence of DVT and the risk or efficacy of treatment is not well defined. The incidence of DVT in children is likely less than in adults, although there is very little prospectively collected information. Most consider the risk of DVT to be extremely low in children 12 years of age or younger. However, this consideration is based on tradition and retrospective reviews of trauma databases. In this study, the authors prospectively evaluated pediatric patients undergoing a variety of elective neurosurgical procedures and performed Doppler ultrasound studies before and after surgery.
A total of 100 patients were prospectively enrolled in this study. All of the patients were between the ages of 1 month and 12 years and were undergoing elective neurosurgical procedures. The 91 patients who completed the protocol received a bilateral lower-extremity Doppler ultrasound examination within 48 hours prior to surgery. Patients did not receive either medical or mechanical DVT prophylaxis during or after surgery. The ultrasound examination was repeated within 72 hours after surgery. An independent, board-certified radiologist evaluated all sonograms. We prospectively collected data, including potential risk factors, details of surgery, and details of the clinical course. All patients were followed clinically for at least 1 year.
There was no clinical or ultrasound evidence of DVT or VTE in any of the 91 patients. There was no clinical evidence of VTE in the 9 patients who did not complete the protocol.
In this prospective study, no DVTs were found in 91 patients evaluated by ultrasound and 9 patients followed clinically. While the study is underpowered to give a definitive incidence, the data suggest that the risk of DVT and VTE is very low in children undergoing elective neurosurgical procedures. Prophylactic protocols designed for adults may not apply to pediatric patients.
Clinical trial registration no.: NCT02037607 (clinicaltrials.gov)
Laurie L. Ackerman, Daniel H. Fulkerson, Andrew Jea and Jodi L. Smith
Patients with shunts often interact with providers distant from their primary hospital, making it important that the parent(s)/guardian(s) is well versed in the type of shunt implanted and symptoms of malfunction/infection. This is particularly important with magnetic-sensitive programmable valves, as the use of MRI becomes more prevalent.
Over a 6-month period, primary caregivers of 148 consecutive patients who received shunts were prospectively administered questionnaires at clinic visits. Caregivers were asked to do the following: 1) identify shunt valve name, type, and setting if applicable; 2) list symptoms of shunt malfunction/infection; and 3) indicate whether they had access to references regarding shunt type/setting, booklets from the Hydrocephalus Association, and quick reference cards with symptoms of shunt malfunction/infection. One cohort of caregivers (n = 75) was asked to carry informational cards with shunt valve/setting information (group I); this cohort was compared with another subgroup of caregivers (n = 73) not carrying cards (group II).
The mean (± SD) age of patients at implantation/revision was 3.71 ± 4.91 years, and the age at follow-up was 6.12 ± 5.4 years. The average time from surgery to administration of the questionnaire was 2.38 ± 3.22 years. There were 86 new shunt insertions and 62 revisions. One hundred twenty-eight caregivers (87%) could identify the type of valve (programmable vs nonprogrammable). On the other hand, only 72 caregivers (49%) could identify the valve name. Fifty-four of 73 (74%) caregivers of patients who had shunts with programmable valves could correctly identify the valve setting. One hundred caregivers (68%) had a copy of the Hydrocephalus Association booklet, and 103 (70%) had quick reference cards. Eighty caregivers (54%) had references on shunt type/setting. Most caregivers (127 [86%]) could name ≥ 3 signs/symptoms of shunt malfunction, with vomiting (61%), headache (49%), and sleeps more/lethargic (35%) most frequently reported. Caregivers of patients in group I were more likely to have cards with symptoms of shunt infection or malfunction (p = 0.015); have information cards regarding shunt type/setting (p < 0.001); and correctly identify valve type (p = 0.001), name (p < 0.001), and setting if programmable (p = 0.0016). There were no differences in ability to list symptoms of shunt malfunction or infection (p = 0.8812) or in access to Hydrocephalus Association booklets (p = 0.1288). There were no significant demographic differences between the groups, except that group I patients had a shorter time from surgery to last follow-up (1.66 vs 3.17 years; p = 0.0001).
Education regarding the care of patients with shunts by providing written cards with shunt type/setting and access to reference materials seems to be effective. Developing plans for guided instruction with assessment in the clinic setting of a caregiver’s knowledge is important for patient safety.
Jodi L. Smith, Jon Hobbs, Aonan Tang, David Jackson, Wei Chen, Hema Patel, Anita Prieto, Alexander Sher, Alan Litke and John M. Beggs
Epileptogenicity of neuronal tissues requires both altered excitability and altered synchronization of neurons. However, the network-level mechanisms responsible for neuronal hyperexcitability and synchronization remain unknown, and there is much to learn regarding how even small networks of neurons interact. The present study examines local and network properties of cortical neurons from epileptogenic human and excited (“epileptic”) rat cortex.
Epileptogenic cortex was harvested from pediatric patients with medically refractory seizures undergoing resective surgery. Local field potential signals (LFPs) were recorded continuously for up to several hours with a 60-channel microelectrode array. We also recorded LFPs from slices and organotypic and dissociated cultures of rat cortex bathed in high K+ and low Mg++. We then compared the human and rat data, applied a second-order maximum entropy model (MEM) to the data, and explored how well the MEM predicted sequences of correlated states over time.
Both human and rat cortex produced LFP signals in the form of interictal spikes on almost all electrodes. However, only human cortex demonstrated spontaneous activity in normal cerebrospinal fluid, and the LFPs from human cortex showed greater synchrony across electrodes than the rat LFPs. Moreover, when a second-order MEM was applied to human and rat data, the model accounted for roughly 88% of network correlations. However, in 8/13 preparations the observed sequences of correlated states were significantly longer than predicted by independently concatenating states from the model, suggesting that temporal dependencies are a common feature of cortical network activity.
Excited slices of rat cortex fail to capture some important features of network activity found in epileptogenic human cortex. Furthermore, a second-order MEM successfully predicts correlated states in cortical networks, but not their evolution over time. Thus, higher-order MEMs are necessary to account for temporal correlations observed between states.
R. Michael Scott, Jodi L. Smith, Richard L. Robertson, Joseph R. Madsen, Sulpicio G. Soriano and Mark A. Rockoff
Object. Moyamoya syndrome, a narrowing of the basal intracranial vessels accompanied by the development of a cloud of collateral “moyamoya” vasculature, causes cerebral ischemia and stroke. This study was undertaken to determine if a standardized neurosurgical revascularization procedure, pial synangiosis, conferred long-term benefit in pediatric patients.
Methods. The authors reviewed the clinical and radiographic records obtained in a consecutive series of patients with moyamoya syndrome. Patients were 21 years of age or younger and underwent surgery performed by a single neurosurgeon during a 17-year period.
There were 143 patients (89 females and 54 males). Sixteen patients were Asian. Neurofibromatosis was present in 16 patients, 13 had undergone therapeutic cranial irradiation, and Down syndrome was present in 10. In 66 there was no known predisposing condition. Stroke had occurred in 67.8% of the population and transient ischemic attacks (TIAs) in 43.4% prior to surgery. Within the first 30 days following 271 craniotomies for pial synangiosis, there were 11 episodes of stroke (7.7% per patient; 4% per surgically treated hemisphere) and three severe TIAs.
Follow-up evaluation was performed in all but one patient (mean period 5.1 years). In 126 patients followed for more than 1 year, four suffered a late-onset stroke, one suffered a severe reversible TIA without magnetic resonance imaging—documented evidence of stroke, and two experienced persistent TIAs. In 46 patients followed for more than 5 years in whom the major initial presentation was stroke alone, only two late-onset strokes have occurred. Functional status at the time of surgery determined long-term functional status.
Conclusions. Following pial synangiosis, the majority of pediatric patients with moyamoya syndrome stop having strokes and TIAs, and they appear to experience an excellent long-term prognosis.
Charles G. Kulwin, Neal B. Patel, Laurie L. Ackerman, Jodi L. Smith, Joel C. Boaz and Daniel H. Fulkerson
The surgical management of patients with symptoms of tethered cord syndrome (TCS) who lack significant radiographic abnormalities is controversial. One potential MRI marker for TCS is a spinal cord syrinx or syringomyelia. Alternatively, a syrinx may be a benign and incidental finding. In this report the authors evaluated a highly selected cohort of patients with symptoms of TCS with minimal radiographic abnormalities other than syringomyelia. They analyzed clinical and radiographic outcomes after tethered cord release (TCR).
A retrospective review of data from 16 children who met the study inclusion criteria was performed. All patients had been surgically treated at Riley Hospital for Children in Indianapolis, Indiana, between 2006 and 2011. All children had clinical symptoms of TCS as well as available pre- and postoperative MRI data.
The most common presentation (12 [75%] of 16 patients) was urinary dysfunction, defined as symptoms of urgency or incontinence with abnormal urodynamic studies. Clinical follow-up data were available in 11 of these 12 patients. All 11 had improvement in symptoms at an average follow-up of 17 months. Seven (87.5%) of 8 patients presenting with back or leg pain had improvement. Three patients had progressive scoliosis; 2 had stabilization of the curve or mild improvement, and 1 patient had worsening deformity.
Radiographic follow-up data were obtained an average of 14.5 months after surgery. Twelve patients (75%) had stable syringomyelia after TCR. Four patients showed improvement, with 2 having complete radiographic resolution.
Highly selected patients with symptoms of TCS did very well clinically. Patients with abnormal urodynamic studies, pain, and gait disturbances showed a high rate of symptomatic improvement. However, a smaller percentage of patients had radiographic improvement of the syrinx. Therefore, the authors suggest that the decision to perform TCR should be based on clinical symptoms in this population. Symptomatic improvement was not necessarily related to radiographic resolution of the syrinx.
Daniel H. Fulkerson, Todd D. Vogel, Abdul A. Baker, Neal B. Patel, Laurie L. Ackerman, Jodi L. Smith and Joel C. Boaz
The optimal treatment of symptomatic posterior fossa arachnoid cysts is controversial. Current options include open or endoscopic resection, fenestration, or cyst-peritoneal shunt placement. There are potential drawbacks with all options. Previous authors have described stenting a cyst into the ventricular system for supratentorial lesions. The current authors have used a similar strategy for posterior fossa cysts.
The authors performed a retrospective review of 79 consecutive patients (1993–2010) with surgically treated intracranial arachnoid cysts.
The authors identified 3 patients who underwent placement of a stent from a posterior fossa arachnoid cyst to a supratentorial ventricle. In 2 patients the stent construct consisted of a catheter placed into a posterior fossa arachnoid cyst and connecting to a lateral ventricle catheter. Both patients underwent stent placement as a salvage procedure after failure of open surgical fenestration. In the third patient a single-catheter cyst-ventricle stent was stereotactically placed. All 3 patients improved clinically. Two patients remained asymptomatic, with radiographic stability in a follow-up period of 1 and 5 years, respectively. The third patient experienced initial symptom resolution with a demonstrable reduction of intracystic pressure. However, he developed recurrent headaches after 2 years.
Posterior fossa cyst–ventricle stenting offers the benefits of ease of surgical technique and a low morbidity rate. It may also potentially reduce the incidence of shunt-related headaches by equalizing the pressure between the posterior fossa and the supratentorial compartments. While fenestration is considered the first-line therapy for most symptomatic arachnoid cysts, the authors consider cyst-ventricle stenting to be a valuable additional strategy in treating these rare and often difficult lesions.
Daniel H. Fulkerson, Ian K. White, Jacqueline M. Rees, Maraya M. Baumanis, Jodi L. Smith, Laurie L. Ackerman, Joel C. Boaz and Thomas G. Luerssen
Patients with traumatic brain injury (TBI) with low presenting Glasgow Coma Scale (GCS) scores have very high morbidity and mortality rates. Neurosurgeons may be faced with difficult decisions in managing the most severely injured (GCS scores of 3 or 4) patients. The situation may be considered hopeless, with little chance of a functional recovery. Long-term data are limited regarding the clinical outcome of children with severe head injury. The authors evaluate predictor variables and the clinical outcomes at discharge, 1 year, and long term (median 10.5 years) in a cohort of children with TBI presenting with postresuscitation GCS scores of 3 and 4.
A review of a prospectively collected trauma database was performed. Patients treated at Riley Hospital for Children (Indianapolis, Indiana) from 1988 to 2004 were reviewed. All children with initial GCS (modified for pediatric patients) scores of 3 or 4 were identified. Patients with a GCS score of 3 were compared with those with a GCS score of 4. The outcomes of all patients at the time of death or discharge and at 1-year and long-term follow-up were measured with a modified Glasgow Outcome Scale (GOS) that included a “normal” outcome. Long-term outcomes were evaluated by contacting surviving patients. Statistical "classification trees" were formed for survival and outcome, based on predictor variables.
Sixty-seven patients with a GCS score of 3 or 4 were identified in a database of 1636 patients (4.1%). Three of the presenting factors differed between the GCS 3 patients (n = 44) and the GCS 4 patients (n = 23): presence of hypoxia, single seizure, and open basilar cisterns on CT scan. The clinical outcomes were statistically similar between the 2 groups. In total, 48 (71.6%) of 67 patients died, remained vegetative, or were severely disabled by 1 year. Eight patients (11.9%) were normal at 1 year. Ten of the 22 patients with long-term follow-up were either normal or had a GOS score of 5.
Multiple clinical, historical, and radiological factors were analyzed for correlation with survival and clinical outcome. Classification trees were formed to stratify predictive factors. The pupillary response was the factor most predictive of both survival and outcome. Other factors that either positively or negatively correlated with survival included hypothermia, mechanism of injury (abuse), hypotension, major concurrent symptoms, and midline shift on CT scan. Other factors that either positively or negatively predicted long-term outcome included hypothermia, mechanism of injury, and the assessment of the fontanelle.
In this cohort of 67 TBI patients with a presenting GCS score of 3 or 4, 56.6% died within 1 year. However, approximately 15% of patients had a good outcome at 10 or more years. Factors that correlated with survival and outcome included the pupillary response, hypothermia, and mechanism. The authors discuss factors that may help surgeons make critical decisions regarding their most serious pediatric trauma patients.