Postnatal myelomeningocele closure in smallest reported neonate: illustrative case.

BACKGROUND: Myelomeningocele (MMC) is the most serious form of spina bifida, a congenital defect in neural tube development. Defect closure in a patient with an extremely low birth weight presents unique challenges and risks; lower birth weight is associated with multiple organ system concerns, homeostasis is difficult, and local tissue is underdeveloped. To the authors' knowledge, the present case is the lowest reported weight (490 g) for a neonate with postnatal MMC repair. OBSERVATIONS: A preterm male with a prenatally diagnosed lumbosacral MMC and associated Chiari malformation type II was born at 23 weeks 1 day to a 29-year-old mother, gravidity 6 parity 4. The patient was medically stabilized and underwent MMC closure on day of life 5. His weight was 490 g at the time of this repair, and he did not have any surgical complications. At age 16 months, he underwent endoscopic third ventriculostomy with choroid plexus cauterization; he has not required any further hydrocephalus treatments since the last follow-up at 30 months of age. LESSONS: To the authors' knowledge, this case is the lowest birth weight ex utero MMC closure reported in the literature. Challenges of prematurity and size required appropriate preoperative stabilization, careful hemostasis and temperature regulation, and meticulous surgical technique.

The Re-Evaluation of Frailty in Predicting Complications after Long-Segment Spinal Fusion for Adult Spinal Deformity.

OBJECTIVE: To evaluate on a national scale how frailty status (stratified using the 5-item Modified Frailty Index (mFI-5)) affects the operative characteristics of and complications after long-segment spinal fusion (LSF) for adult spinal deformity (ASD). METHODS: Adults undergoing LSF of ≥3 vertebrae in the National Surgical Quality Improvement Program database years 2015-2020 were split into 2 cohorts: nonfrail with mFI = 0 or 1; frail with mFI ≥2. Demographics, operative characteristics, and 30-day complications were contrasted between the cohorts using the Student's t-test, the Fisher's exact test, or a multivariate analysis when appropriate. RESULTS: In the 340 LSF cases collected, 268 fell into the nonfrail cohort and 72 into the frail cohort. The frail cohort constituted a high rate of geriatric age (65.3% vs. 38.1%; P < 0.001), higher body mass index (32.9 ± 0.86 vs. 30.2 ± 0.39; P = 0.005), and more comorbidities in 9 of 14 measures. After surgery, the frail cohort experienced more urinary tract infections (odds ratio [OR], 3.33; confidence interval [CI], 1.01-10.94; P = 0.04). However, the frail cohort shared similarities with the nonfrail cohort in terms of length of stay (5.11 ± 0.51 vs. 6.01 ± 1.62 days; P = 0.60), home discharge (OR, 0.76; CI, 0.42-1.39; P = 0.38), readmission (OR, 2.45; CI, 0.87-6.89; P = 0.09), and overall rate of complications (OR, 0.89; CI, 0.50-1.59; P = 0.70). CONCLUSIONS: Despite trends found in past studies of ASD, this analysis showed that the frailty status of mFI ≥2 is a poor predictor of surgical and hospitalization course and overall complications in LSF when examined up to 30 days postoperatively.

Intraoperative neural monitoring during head and neck surgery in patients with concern for cervical spine instability.

Cervical and craniocervical instability are associated with catastrophic procedural outcomes. We discuss three individuals who required otolaryngologic surgical intervention: two with symptomatic spinal instability and one in whom spinal stability was unable to be assessed. Two cases were managed with procedural positioning precautions and evoked potential monitoring, and the other with procedural positioning precautions alone. Methods of monitoring and triggers for repositioning are discussed. This series is intended to discuss the approach and potential added value of evoked potential monitoring for risk mitigation in pediatric patients with concern for cervical spine instability.

Management of failed Chiari decompression and intrasyringeal hemorrhage in Noonan syndrome: illustrative cases.

BACKGROUND: Noonan syndrome (NS) is a rare genetic RASopathy with multisystem implications. The disorder is typically characterized by short stature, distinctive facial features, intellectual disability, developmental delay, chest deformity, and congenital heart disease. NS may be inherited or arise secondary to spontaneous mutations of genes in the Ras/mitogen activated protein kinase signaling pathways. OBSERVATIONS: Numerous case reports exist detailing the association between NS and Chiari I malformation (CM-I), although this relationship has not been fully established. Patients with NS who present with CM-I requiring operation have shown high rates reoperation for failed decompression. The authors reported two patients with NS, CM-I, and syringomyelia who had prior posterior fossa decompressions without syrinx improvement. Both patients received reoperation with successful outcomes. LESSONS: The authors highlighted the association between NS and CM-I and raised awareness that patients with these disorders may be at higher risk for failed posterior fossa decompression, necessitating reoperation.

Management of Craniocervical Instability in Spondyloepiphyseal Dysplasia Congenita: Assessment of Literature and Presentation of Two Cases.

Spondyloepiphyseal dysplasia congenita (SEDC) is a rare autosomal dominant skeletal dysplasia resulting in impairment of type II collagen function. Phenotypically, this results in various skeletal, ligamentous, ocular, and otologic abnormalities. Platyspondyly, scoliosis, ligamental laxity, and odontoid hypoplasia are common, resulting in myelopathy in a high number of patients due to atlantoaxial instability. Despite patients undergoing surgical fixation, complication rates such as nonunion have been reported to be high. Here within, we present two patients treated with occipitocervical fusion for atlantoaxial instability and early symptoms of progressive myelopathy. We additionally provide a detailed review of the literature to inform practitioners of the spinal manifestations and clinical considerations in SEDC.

Safety and Quality in Syndromic Neurosurgery.

The developing field of syndromic neurosurgery has significant challenges and opportunities in quality and safety. Quality care must be safe, effective, patient-centered, timely, efficient, and equitable; the Donabedian model focused on system structures, processes, and outcomes is a helpful framework to guide improvement in these areas. Ultimately, a successful syndromic neurosurgery program will bring together an interested multidisciplinary team of experts who will grow care through open communication and steady improvement efforts.

Neurosurgical Evaluation and Management of Adults with Achondroplasia.

Much of the current medical discussion for within centers for skeletal dysplasia and specifically patients with achondroplasia focuses on infancy and early childhood. Most neurosurgical concerns arise due to a defect in the endochondral ossification, resulting on early fusion of the synchondrosis. As patients age, the neurosurgical focus shifts from primarily cranial to spinal concerns. Often pediatric neurosurgeons may continue to follow their patients with skeletal dysplasia. However, general adult neurosurgeons and orthopedic surgeons may see these graduated adults in their practice. This article provides a review of the common neurosurgical concerns for patients with achondroplasia.

Neurosurgical Evaluation and Management of Children with Achondroplasia.

Achondroplasia is the most common of skeletal dysplasias and is caused by a defect in endochondral bone formation. In addition to skeletal deformities, patients with achondroplasia possess significant abnormalities of the axial skeleton, including small skull base with a narrowed foramen magnum and small vertebral bodies with shortened pedicles. Consequently, patients with achondroplasia are at risk of several severe neurologic conditions, such as cervicomedullary compression, spinal stenosis, and hydrocephalus, which frequently require the attention of a neurosurgeon. This article provides an updated review on the neurosurgical evaluation and care of children with Achondroplasia.

Neurosurgical Evaluation and Management of Patients with Chromosomal Abnormalities.

Patients with chromosomal abnormalities are at risk for numerous neurosurgical pathologies, given the broad impact and multisystem involvement of these disorders. Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13), Klinefelter syndrome (47,XXY), and velocardiofacial or DiGeorge syndrome (22q11.2 deletion) are particularly associated with neurosurgical concerns. Given the heterogeneity of concerns and presentations, these patients benefit from multidisciplinary care provided by teams familiar with their specific syndrome.

Temporary Internal Bracing for Pediatric Odontoid Synchondrosis Fracture.

Children are predisposed to injuries of the upper cervical spine given their relatively immature osteology, ligamentous laxity, underdeveloped musculature, and larger ratios of head to body mass. Odontoid process fractures involving the synchondroses are among the most common of these injuries. Though many of these fractures can be treated conservatively with external bracing, fractures with significant displacement that are unable to be reduced require operative management. In these cases, most patients undergo C1-2 posterior fusion with arthrodesis with permanent limitation to atlantoaxial range of motion (ROM). Here, we present a novel operative approach to manage odontoid synchondrosis fractures with temporary internal bracing via C1-2 posterior instrumentation without arthrodesis. We saw a three-year-old female who presented after a motor vehicle collision with a displaced odontoid synchondrosis fracture that was unable to be adequately reduced in a closed fashion. In an attempt to preserve maximal atlantoaxial ROM, temporary internal bracing was carried out with excellent results.

Operative Management of Spinal Deformity Secondary to Hajdu-Cheney Syndrome.

Hajdu-Cheney syndrome (HCS) is an exceedingly rare disease with fewer than 100 cases described in the medical literature. It is most strongly associated with a defect in the transmembrane protein NOTCH2. Though the exact mechanism in humans is not yet known, the defect results in various skeletal abnormalities including severe osteoporosis placing these patients at high risk for progressive spinal deformity. Due to various common syndromic features including ligamentous laxity, increased osteoclast activity, skeletal malformations, patency of cranial sutures, and the aforementioned severe osteoporosis, these patients require special consideration from treating surgeons. There are currently only nine reported cases of spinal surgery in HCS patients. Herein, we describe the cases of two patients with HCS requiring surgery for progressive spinal deformity. Six months following surgery, both patients reported excellent outcomes with significant improvement in symptoms.

Craniospinal Surgery in Hajdu-Cheney Syndrome: A Review of Case Reports.

Hajdu-Cheney syndrome (HCS) is a rare metabolic bone disorder that results in severe osteoporosis and various skeletal deformities. Craniospinal pathology is commonly associated with it, but surgical management is challenging due to the distorted anatomy, reduced bone strength, and fusion failure due to osteolysis. Hence, the surgical difficulty in these patients requires careful consideration. In this study, we systematically review all published operative cases and complications to provide a comprehensive review pertaining to the spine and/or cranium in patients with HCS. By highlighting these cases and their associated complications, we aim to prepare practitioners who treat this difficult pathology.

Subdural empyema caused by Morganella morganii.

BACKGROUND: Morganella morganii is a species of Gram-negative enteric rod found in normal human gut flora. Pathologically, this most often presents as urinary tract infections, wound infections, and bacteremia. It is highly uncommon for M. morganii to be implicated in a central nervous system infection, with only 12 reported cases of parenchymal abscesses or meningitis. CASE DESCRIPTION: A previously healthy 13-month-old female presented with fever of unknown origin and had a witnessed seizure during evaluation. A large left subdural fluid collection was identified, and the patient underwent emergent burr hole drainage and subdural drain placement. Cultures demonstrated M. morganii empyema, and she subsequently completed a course of directed antibiotics. Six months following surgery, she has no further clinical or radiographic evidence of infection, seizures, or neurological sequelae. CONCLUSION: We describe the first reported case of isolated subdural empyema caused by M. morganii. The child was successfully treated with the evacuation of the empyema and direct antibiotics with no lasting neurological injury.

Upper Thoracic Spine Synovial Cyst Resulting in Paraplegia Following Transient Hypotension.

Development of synovial cysts in the rigid thoracic spine is rare. Additionally, synovial cysts with compression of nerve roots typically cause subacute or chronic radiculopathy. We present a patient who had a new diagnosis of upper thoracic (T1-2) synovial cyst that caused acute paraplegia while hospitalized for therapies and surgical planning. The patient is a 56-year-old male with a history of congestive heart failure secondary to alcoholic cardiomyopathy. He presented with a progressive bilateral lower extremity discoordination, urinary incontinence, and altered perineal sensation. His examination revealed intact strength to bedside assessment, intact rectal tone, but upgoing toes on Babinski testing. Given concern for myelopathy, MRI thoracic spine was obtained and demonstrated large T1-2 synovial cyst causing severe compression with associated T2 signal change within the spinal cord. He underwent expedited cardiac optimization that included resumption of outpatient antihypertensive medications and the addition of a single dose of intravenous diuretic. The patient had subsequent transient hypotension following significant diuresis and developed acute paraplegia in his bilateral lower extremities. Fluids and vasopressors were initiated, and he underwent emergent surgery for decompression and synovial cyst resection. The patient did very well and had normalization of his neurological exam within 24 hours. We present a case of acute paraplegia secondary to hypotension and spinal cord hypoperfusion in a patient with upper thoracic synovial cyst. This is rare pathology with an even more unique presentation. The authors recommend careful perioperative hemodynamic monitoring to help avoid acute worsening in this patient population.

Intrathecal Baclofen for Hypertonia Secondary to Glutaric Aciduria Type I.

Glutaric aciduria type I (GA1) is a rare organic aciduria characterized by basal ganglia dysfunction and severe dystonia and spasticity for which enteral baclofen is currently first-line therapy. Intrathecal baclofen (ITB) is a promising alternative, given the dose titratability and concentrated delivery of medication to therapeutic targets within the central nervous system. However, the response to ITB in patients with this rare condition has not been previously reported. We present a 15-year-old girl with GA1 and associated hypertonia refractory to extensive, multimodal adjuvant medical therapy including enteral baclofen. An ITB pump was implanted, and after an appropriate baclofen titration, her hypertonia and enteral pharmacologic regimen were both reduced. We demonstrate that ITB is a viable modality for treating refractory dystonia and spasticity secondary to GA1; it can objectively reduce hypertonia, subjectively improve quality of life, and minimize the side effect profile of otherwise extensive pharmacologic therapies.

Epidural Fibrin Sealant Injection for the Management of Cerebrospinal Fluid Leak Following Dural Puncture in Children.

Cerebrospinal fluid (CSF) leak, intracranial hypotension, and postdural puncture headaches are common following dural punctures. Management usually consists of conservative treatments with medications (e.g. caffeine, nonsteroidal anti-inflammatory drugs, steroids, opioids), increased fluid intake, and bed rest. In more severe and persistent cases, epidural blood patches (EBPs) are indicated. When multiple EBPs fail, epidural injection of fibrin sealant has been successful in a few reported adult cases. The authors describe the first reported clinical experiences of epidural fibrin patch in children for repair of CSF leak and resolution of intracranial hypotension. This technique was used in three cases where serial EBPs failed to resolve symptoms related to intracranial hypotension following dural puncture. Following the procedure, each patient had resolution of their presenting clinical symptoms and radiographic abnormalities, and there were no noted complications. Epidural fibrin sealant injection is a reasonable option for relieving intracranial hypotension due to CSF leak following dural puncture in children.

Pediatric Holocord Epidural Abscess Treated with Apical Laminotomies with Catheter-directed Irrigation and Drainage.

Spinal epidural abscesses (SEA), while fortunately rare, carry significant risk to affected patients. Optimal treatment of these infections is poorly defined due to the heterogeneity of clinical and radiographic presentations. Urgent surgical evacuation of the infection is critical in cases with spinal cord compression or neurological compromise, though challenges may arise from competing surgical objectives, including the need for successful debridement of the infection, desire to minimize operative intervention, and risk of delayed iatrogenic instability. This is particularly concerning in young children with large multiregional collections. We present the first report case of pediatric holocord abscess treated with apical laminotomies and epidural catheterization for irrigation and drainage. This technique allowed successful treatment while avoiding extensive laminectomies and associated morbidities.

Ferumoxytol-enhanced MRI for surveillance of pediatric cerebral arteriovenous malformations.

OBJECTIVE: Children with intracranial arteriovenous malformations (AVMs) undergo digital DSA for lesion surveillance following their initial diagnosis. However, DSA carries risks of radiation exposure, particularly for the growing pediatric brain and over lifetime. The authors evaluated whether MRI enhanced with a blood pool ferumoxytol (Fe) contrast agent (Fe-MRI) can be used for surveillance of residual or recurrent AVMs. METHODS: A retrospective cohort was assembled of children with an established AVM diagnosis who underwent surveillance by both DSA and 3-T Fe-MRI from 2014 to 2016. Two neuroradiologists blinded to the DSA results independently assessed Fe-enhanced T1-weighted spoiled gradient recalled acquisition in steady state (Fe-SPGR) scans and, if available, arterial spin labeling (ASL) perfusion scans for residual or recurrent AVMs. Diagnostic confidence was examined using a Likert scale. Sensitivity, specificity, and intermodality reliability were determined using DSA studies as the gold standard. Radiation exposure related to DSA was calculated as total dose area product (TDAP) and effective dose. RESULTS: Fifteen patients were included in this study (mean age 10 years, range 3-15 years). The mean time between the first surveillance DSA and Fe-MRI studies was 17 days (SD 47). Intermodality agreement was excellent between Fe-SPGR and DSA (κ = 1.00) but poor between ASL and DSA (κ = 0.53; 95% CI 0.18-0.89). The sensitivity and specificity for detecting residual AVMs using Fe-SPGR were 100% and 100%, and using ASL they were 72% and 100%, respectively. Radiologists reported overall high diagnostic confidence using Fe-SPGR. On average, patients received two surveillance DSA studies over the study period, which on average equated to a TDAP of 117.2 Gy×cm2 (95% CI 77.2-157.4 Gy×cm2) and an effective dose of 7.8 mSv (95% CI 4.4-8.8 mSv). CONCLUSIONS: Fe-MRI performed similarly to DSA for the surveillance of residual AVMs. Future multicenter studies could further investigate the efficacy of Fe-MRI as a noninvasive alternative to DSA for monitoring AVMs in children.

Serial Quantitative and Qualitative Measurements of Flow in Vein of Galen Malformations Using 4-Dimensional Flow Magnetic Resonance Imaging (Phase Contrast Vastly undersampled Isotropic PRojection).

BACKGROUND: Vein of Galen malformations (VoGMs) induce cerebrovascular dysfunction through arterial steal and venous hypertension resulting, if untreated, in severe neurologic morbidity and mortality. Noninvasive techniques for quantitative, serial evaluation of cerebrovascular hemodynamics in VoGMs are lacking. This proof of concept study using quantitative blood flow measurements from 4-dimensional flow magnetic resonance imaging may be useful as a noninvasive biomarker to guide timing of intervention and assess disease progression and treatment outcomes. CASE DESCRIPTION: Between July 2016 and July 2018, 4 patients harboring VoGMs underwent Phase Contrast Vastly undersampled Isotropic PRojection (PCVIPR) imaging at the University of Wisconsin Hospitals and Clinics. We applied PCVIPR imaging to assess its potential for obtaining anatomic and physiologic flow data before and after surgical embolization of VoGMs. Hemodynamic pressure parameters obtained from PCVIPR imaging were compared with stump pressures recorded in vivo. We found a decrease in mean arterial pressure from 97 mm Hg pretreatment to 65 mm Hg post treatment. These findings corroborate the decrement in venous pressure gradients documented on PCVIPR imaging. For all patients, pressure gradient changes on PCVIPR imaging correlated with in vivo arterial pressures and aided in clinical decision related to cerebrovascular evaluation, treatment planning, and clinical course. CONCLUSIONS: Four-dimensional flow magnetic resonance imaging/PCVIPR imaging has a potential role in determining endovascular embolization and therapeutic outcomes on the basis of objective and reproducible hemodynamic characteristics of the vascular lesion. It represents a novel, noninvasive approach that may guide the extent and timing of therapeutic intervention and treatment of cerebrovascular diseases in pediatric patients.