Hurler syndrome is the most severe form of mucopolysaccharidosis (MPS) Type 1. Progressive neurocognitive decline in this condition can be accompanied by macrocephaly, ventriculomegaly, and/or periventricular signal changes on MRI, which often leads to a neurosurgical referral. In this case, the authors describe a 2-year-old boy with ventriculomegaly and periventricular T2 signal changes, both of which decreased following medical management of Hurler syndrome. The authors discuss the possible mechanisms for this finding and the implications for neurosurgical treatment of this condition.
Jennifer Liang and Ash Singhal
Christopher M. Bonfield, D. Douglas Cochrane, Ash Singhal, and Paul Steinbok
Sagittal craniosynostosis, the most common single suture craniosynostosis, is treated by numerous surgical techniques. Minimally invasive endoscopy-assisted procedures with postoperative helmeting are being used with reports of good cosmetic outcomes with decreased morbidity, shortened hospital stay, and less blood loss and transfusion. This procedure uses small skin incisions, which must be properly placed to provide safe access to the posterior sagittal and lambdoid sutures. However, the lambda is often hard to palpate through the skin due to the abnormal head shape. The authors describe their experience with the use of intraoperative, preincision ultrasound localization of the lambda in patients with scaphocephaly undergoing a minimally invasive procedure. This simple technique can also be applied to other operations where proper identification of the cranial sutures is necessary.
Christopher M. Bonfield, Jade Basem, D. Douglas Cochrane, Ash Singhal, and Paul Steinbok
At British Columbia Children’s Hospital (BCCH), pediatric patients with nonsyndromic craniosynostosis are admitted directly to a standard surgical ward after craniosynostosis surgery. This study’s purpose was to investigate the safety of direct ward admission and to examine the rate at which patients were transferred to the intensive care unit (ICU), the cause for the transfer, and any patient characteristics that indicate higher risk for ICU care.
The authors retrospectively reviewed medical records of pediatric patients who underwent single-suture or nonsyndromic craniosynostosis repair from 2011 to 2016 at BCCH. Destination of admission from the operating room (i.e., ward or ICU) and transfer to the ICU from the ward were evaluated. Patient characteristics and operative factors were recorded and analyzed.
One hundred fourteen patients underwent surgery for single-suture or nonsyndromic craniosynostosis. Eighty surgeries were open procedures (cranial vault reconstruction, frontoorbital advancement, extended-strip craniectomy) and 34 were minimally invasive endoscope-assisted craniectomy (EAC). Sutures affected were sagittal in 66 cases (32 open, 34 EAC), coronal in 20 (15 unilateral, 5 bilateral), metopic in 23, and multisuture in 5. Only 5 patients who underwent open procedures (6%) were initially admitted to the ICU from the operating room; the reasons for direct admission were as follows: the suggestion of preoperative elevated intracranial pressure, pain control, older-age patients with large reconstruction sites, or a significant medical comorbidity. Overall, of the 107 patients admitted directly to the ward (75 who underwent an open surgery, 32 who underwent an EAC), none required ICU transfer.
Overall, the findings of this study suggest that patients with nonsyndromic craniosynostosis can be managed safely on the ward and do not require postoperative ICU admission. This could potentially increase cost savings and ICU resource utilization.
Julia Sharma, Christopher M. Bonfield, Ash Singhal, Juliette Hukin, and Paul Steinbok
Craniopharyngioma is a benign, cystic suprasellar tumor that can be treated with intracystic chemotherapy. Interferon-α (IFN-α) has been gaining popularity as an intracystic treatment for craniopharyngioma because of its efficacy and supposed benign neurotoxicity profile. In this case report the authors describe a patient who, while receiving intracystic IFN-α, suffered a neurological event, which was believed to be related to drug leakage outside the cyst. This is the first report of a focal neurological deficit potentially attributable to intracystic IFN-α therapy, highlighting the fact that IFN-α may have neurotoxic effects on the central nervous system. Given this case and the results of a literature review, the authors suggest that a positive leak test is a relative contraindication to intracystic IFN-α treatment.
Bryan Renne, Stefan Rueckriegel, Sudheesh Ramachandran, Julia Radic, Paul Steinbok, and Ash Singhal
Bobble-head doll syndrome (BHDS) is a rare pediatric movement disorder presenting with involuntary 2- to 3-Hz head movements. Common signs and symptoms also found on presentation include macrocephaly, ataxia, developmental delay, optic disc pallor or atrophy, hyperreflexia, tremor, obesity, endocrinopathy, visual disturbance or impairment, headache, and vomiting, among others. The syndrome is associated with suprasellar cysts, third ventricular cysts, or aqueductal obstruction, along with a few other less common conditions. The cause of involuntary head motions is not understood. Treatment is surgical. The authors present 2 cases of BHDS. The first is a 14-year-old boy with BHDS associated with aqueductal obstruction and triventricular hydrocephalus secondary to a tectal tumor. He was successfully treated by endoscopic third ventriculostomy, and all symptoms resolved immediately in the recovery room. This case is unusual in its late age of symptom onset, the primacy of lateral (“no-no”) involuntary head rotations, and the associated tectal tumor. The second case is a 7.5-year-old girl with BHDS associated with a suprasellar cyst. She was successfully treated with an endoscopic fenestration but preexisting endocrinopathy persisted, and the patient was diagnosed with autism spectrum disorder at age 12 years. This second case is more typical of BHDS. A comprehensive and up-to-date review of the literature of BHDS and video documentation of the phenomenon are presented.
Ash Singhal, Tim Bowen-Roberts, Paul Steinbok, Doug Cochrane, Angela T. Byrne, and John M. Kerr
The natural history of syringomyelia in pediatric patients remains uncertain. Although symptomatic and operative cases of syringomyelia are well studied, there are fewer articles in the literature on the nonoperative syrinx and its clinical and radiological course. The purpose of this research was to analyze the natural history of untreated syringomyelia in pediatric patients presenting with minimal neurological symptoms.
A review of the neurosurgery database at British Columbia's Children's Hospital identified all pediatric patients (< 18 years of age) with syringes identified on MR imaging. Patients were included in this study if they had at least 2 MR images of the spine, at least 1 year apart, while receiving nonoperative treatment. Magnetic resonance imaging was used to determine changes in the size of the syrinx over time. Clinic notes were analyzed to establish demographic and clinical features and to determine any clinical changes over time.
A total of 17 patients were included in the study. Symptoms at presentation were often mild and included limb numbness (3 cases), headaches (2 cases), mild sensory deficits (2 cases), mild motor deficits (3 cases), and intermittent incontinence (7 cases). The consultant neurosurgeon believed that the syrinx was not contributing to the symptoms in these 17 patients. The syrinx either remained unchanged (7 cases) or diminished in size (8 cases) in a total of 15 patients (88%). In the remaining 2 patients the authors noted an increase in syrinx size, in 1 of whom the clinical course also worsened. Both of these patients had a Chiari malformation and subsequently underwent craniocervical decompression. Overall, the mean change was −0.7 mm of maximal axial diameter (range −2.6 to +2.7 mm). Sixteen patients (94%) exhibited no worsening of symptoms over time.
Syringomyelia often remains stable in patients receiving nonoperative treatment. However, given that 2 (12%) of 17 syringes in this series enlarged, it is likely appropriate to include periodic imaging in the follow-up of these cases.
James M. Drake, Ash Singhal, Abhaya V. Kulkarni, Gabrielle DeVeber, D. Douglas Cochrane, and The Canadian Pediatric Neurosurgery Study Group
Monitoring and recording of complications in pediatric neurosurgery are important for quality assurance and in particular for improving outcomes. Lack of accurate or mutually agreed upon definitions hampers this process and makes comparisons between centers, which is an important method to improve outcomes, difficult. Therefore, the Canadian Pediatric Neurosurgery Study Group created definitions of complications in pediatric neurosurgery with consensus among 13 Canadian pediatric neurosurgical centers.
Definitions of complications were extracted from randomized trials, prospective data collection studies, and the medical literature. The definitions were presented at an annual meeting and were subsequently recirculated for anonymous comment and revision, assembled by a third party, and re-presented to the group for consensus.
Widely used definitions of shunt failure were extracted from previous randomized trials and prospective studies. Definitions for wound infections were extracted from the definitions from the Centers for Disease Control and Prevention. Postoperative neurological deficits were based on the Pediatric Stroke Outcome Measure. Other definitions were created and modified by consensus. These definitions are now currently in use across the Canadian Pediatric Neurosurgery Study Group centers in Morbidity and Mortality data collection and for subsequent comparison studies.
Coming up with consensus definitions of complications in pediatric neurosurgery is a first step in improving the quality of outcomes. It is a dynamic process, and further refinements are anticipated. Center to center comparison will hopefully allow significant variations in outcomes to be identified and acted upon.
Ash Singhal, Tara Adirim, Doug Cochrane, and Paul Steinbok
In general, patients who present with low Glasgow Coma Scale (GCS) scores and/or fixed and dilated pupils are not expected to do well following arteriovenous malformation (AVM) hemorrhage. However, there is a sense among neurosurgeons that pediatric patients may make a better recovery than adults following such an event. There have been few studies focusing on the outcome of pediatric patients with poor neurological status following AVM hemorrhage. The purpose of this study was to characterize functional outcome in pediatric patients with severe disability after AVM hemorrhage.
This was a retrospective analysis of clinical presentation and outcome in 15 patients seen at the authors' pediatric hospital presenting with low GCS scores (defined as GCS ≤ 8) following AVM hemorrhage.
Initial GCS scores ranged from 3 to 6, and 11 of 14 patients had fixed pupils on clinical examination (data were not available in 1 patient). Eight of 15 patients suffered primarily a lobar hemorrhage, 3 suffered primarily infratentorial bleeding, 2 suffered primarily hemorrhages of the basal ganglia, and 2 suffered intraventricular hemorrhage. The overall mortality rate was 20% (3 of 15 patients). The clinical outcome of survivors was defined by the Pediatric Cerebral Performance Category (PCPC) and Pediatric Overall Performance Category (POPC) scores at follow-up. One year after AVM hemorrhage, 7 (58%) of the 12 surviving patients showed normal or mild disability (PCPC Score 1 or 2), whereas 5 (42%) of 12 patients had moderate or severe disability (PCPC Score 3 or 4). No patients were in a coma or vegetative state, and 11 (92%) of the 12 patients were functioning independently (POPC Score 1, 2, or 3) 1 year after AVM hemorrhage. All patients were functionally independent by last follow-up, with 8 patients (67%) in the normal or mild disability PCPC category, and 4 in the moderate category (PCPC Score 3). All 12 survivors made a meaningful recovery and went on to live independent lives.
Pediatric patients suffering AVM hemorrhage have a good outcome and are able to function independently, despite a poor neurological state initially.
Matthew C. Davis, Brandon G. Rocque, Ash Singhal, Thomas Ridder, Jogi V. Pattisapu, and James M. Johnston Jr.
Neurosurgical services are increasingly recognized as essential components of surgical care worldwide. The degree of interest among neurosurgeons regarding international work, and the barriers to involvement in global neurosurgical outreach, are largely unexplored. The authors distributed a survey to members of the American Association of Neurological Surgeons/Congress of Neurological Surgeons (AANS/CNS) Joint Section on Pediatric Neurosurgery to assess the state of global outreach among its members and to identify barriers to involvement.
An internet-based questionnaire was developed by the International Education Subcommittee of the AANS/CNS Joint Section on Pediatric Neurosurgery and distributed to pediatric neurosurgeons via the AANS/CNS Joint Section email contact list. Participants were surveyed on their involvement in global neurosurgical outreach, geographic location, nature of the participation, and barriers to further involvement.
A 35.3% response rate was obtained, with 116 respondents completing the survey. Sixty-one percent have performed or taught neurosurgery in a developing country, and 49% travel at least annually. Africa was the most common region (54%), followed by South America (30%), through 29 separate organizing entities. Hydrocephalus was the most commonly treated condition (88%), followed by spinal dysraphism (74%), and tumor (68%). Most respondents obtained follow-up through communications from local surgeons (77%). Seventy-one percent believed the international experience improved their practice, and 74% were very or extremely interested in working elsewhere. Interference with current practice (61%), cost (44%), and difficulty identifying international partners (43%) were the most commonly cited barriers to participation.
Any coordinated effort to expand global neurosurgical capacity begins with appreciation for the current state of outreach efforts. Increasing participation in global outreach will require addressing both real and perceived barriers to involvement. Creation and curation of a centralized online database of ongoing projects to facilitate coordination and involvement may be beneficial.
Michael M. H. Yang, Ash Singhal, Shahrad Rod Rassekh, Stephen Yip, Patrice Eydoux, and Christopher Dunham
The authors describe an infant girl who, at 10 months of age, presented with a large right parietooccipital tumor causing increased intracranial pressure, mass effect, and midline shift. The tumor was completely resected, and the entirety of the histology was consistent with glioblastoma. She was subsequently placed on adjuvant high-dose chemotherapy consisting of carboplatin, vincristine, and temozolomide, according to Head Start III, Regimen C. Three months after the complete resection, tumor recurrence was noted on MR imaging, during the third cycle of chemotherapy, and biopsy revealed malignant astrocytoma. Given the recurrence and the patient's intolerance to chemotherapy, a palliative course was pursued. Unexpectedly, the patient was alive and had made significant developmental improvements 18 months into palliation. Subsequently, however, signs of increased intracranial pressure developed and imaging demonstrated a very large new tumor growth at the site of prior resection. The recurrence was again fully resected, but microscopy surprisingly revealed pleomorphic xanthoastrocytoma throughout. The clinicopathological and genetic features of this girl's unusual neoplasm are detailed and potential pathogenic hypotheses are explored in this report.