Clinical effect and prognosis of transoral or endoscope-assisted transoral release for irreducible atlantoaxial dislocation: A retrospective cohort study.

Background: The clinical applications of endoscope-assisted transoral release for irreducible atlantoaxial dislocations are limited. This study aimed to investigate the clinical effect and prognostic factors of traditional and endoscope-assisted transoral release, as well as posterior reduction and fixation, in treating irreducible atlantoaxial dislocations. Materials and methods: We conducted a retrospective study on 59 patients with irreducible atlantoaxial dislocation who underwent either traditional or endoscope-assisted transoral release, posterior fixation, and fusion between January 2018 and January 2023. Various data, including surgical time, blood loss, drainage volume, oral intake, hospital stay, complications, and neurological status (assessed by the Japanese Orthopedic Association [JOA] score and Oswestry Disability Index [ODI]), were recorded. Imaging parameters such as the atlantodontoid interval (ADI), space available for the cord (SAC), and cervicomedullary angle (CMA) were analyzed and compared. In addition, the correlation between ODI, JOA and patient age, course of disease, preoperative ADI, SAC and CMA were analyzed. Results: No significant differences were observed in age, sex, BMI, preoperative ADI, preoperative SAC, or preoperative CMA. All patients achieved excellent reduction with no significant differences between the two groups. Patients in the endoscopic group experienced significantly reduced blood loss, earlier oral intake, and shorter hospital stays compared to those in the open group (P < 0.05). The ODI and JOA scores improved significantly in both groups at 1, 6, 12, 18, and 24 months postoperatively (P < 0.05). Postoperative ADI, SAC, and CMA values in both groups were significantly better than preoperative values (P < 0.001). The patient age, course of disease and the preoperative ADI were negatively correlated with the postoperative ODI and the JOA improvement ratio (P < 0.01), and the preoperative SAC and preoperative CMA had positive correlations with the postoperative ODI and the JOA improvement ratio (P < 0.01) at 6, 12 and 24 months postoperatively. Conclusion: Patient age, course of disease, preoperative ADI, SAC and CMA are correlated with the operative prognosis of irreducible atlantoaxial dislocation. The endoscope-assisted transoral approach, compared to the traditional transoral approach, is minimally invasive, resulting in less operative blood loss, earlier oral intake and a shorter length of hospital stay, which could be offered as an alternative for irreducible atlantoaxial dislocation.

Calcifying pseudoneoplasms of the neuraxis (CAPNON) in foramen magnum (cervicomedullary junction) region: a case report and review of the literature.

BACKGROUND AND IMPORTANCE: Calcifying pseudoneoplasms of the neuraxis (CAPNON) is an extremely rare tumor, with nearly 150 cases have been reported in the literature. We present a case of CAPNON at foramen magnum (cervicomedullary junction). We also discuss the histological and radiological features of this rare pathology. CLINICAL PRESENTATION: A 35-year-old male patient presented to our center complaining of neck pain for the last 6 months and for the last 3 months has had headaches associated with nausea, blurred vision and papilledema. The patient's magnetic resonance imaging showed the presence of right craniocervical junction intra-dural extramedullary tumor. Neuro examination showed no neurological deficits. He underwent midline suboccipital craniotomy with C1 laminectomy. The mass was completely resected, and histopathology confirmed it to be a CAPNON. CONCLUSION: We presented a new case of CAPNON at cervicomedullary junction. The tumor was radically resected, without any complications. Resection of this kind of tumor is curative, and the need for post-operative chemo or radiotherapy is unnecessary, which depends on the outcome of future research and the long-term follow ups.

The Effect of Posterior Fossa Decompression Surgery on Brainstem and Cervical Spinal Cord Dimensions in Adults with Chiari Malformation Type 1.

OBJECTIVE: Posterior fossa decompression (PFD) surgery creates more space at the skull base, reduces the resistance to the cerebrospinal fluid motion, and alters craniocervical biomechanics. In this paper, we retrospectively examined the changes in neural tissue dimensions following PFD surgery on Chiari malformation type 1 adults. METHODS: Measurements were performed on T2-weighted brain magnetic resonance images acquired before and 4 months after surgery. Measurements were conducted for neural tissue volume and spinal cord/brainstem width at 4 different locations; 2 width measurements were made on the brainstem and 2 on the spinal cord in the midsagittal plane. Cerebellar tonsillar position (CTP) was also measured before and after surgery. RESULTS: Twenty-five adult patients, with a mean age of 38.9 ± 8.8 years, were included in the study. The cervical cord volume increased by an average of 2.3 ± 3.3% (P = 0.002). The width at the pontomedullary junction increased by 2.2 ± 3.5% (P < 0.01), while the width 10 mm caudal to this junction increased by 4.2 ± 3.9% (P < 0.0001). The spinal cord width at the base of second cervical vertebra and third cervical vertebra did not significantly change after surgery. The CTP decreased by 60 ± 37% (P < 0.0001) after surgery, but no correlation was found between CTP change and dimension change. CONCLUSIONS: The brainstem width and cervical cord volume showed a modest increase after PFD surgery, although standard deviations were large. A reduction in compression after PFD surgery may allow for an increase in neural tissue dimension. However, clinical relevance is unclear and should be assessed in future studies with high-resolution imaging.

Achondroplasia Natural History Study (CLARITY): 60-year experience with hydrocephalus in achondroplasia from four skeletal dysplasia centers.

OBJECTIVE: The objective of this study was to describe the incidence and management of hydrocephalus in patients with achondroplasia over a 60-year period at four skeletal dysplasia centers. METHODS: The Achondroplasia Natural History Study (CLARITY) is a registry for clinical data from achondroplasia patients receiving treatment at four skeletal dysplasia centers in the US from 1957 to 2017. Data were entered and stored in a REDCap database and included surgeries with indications and complications, medical diagnoses, and radiographic information. RESULTS: A total of 1374 patients with achondroplasia were included in this study. Of these, 123 (9%) patients underwent treatment of hydrocephalus at a median age of 14.4 months. There was considerable variation in the percentage of patients treated for hydrocephalus by center and decade of birth, ranging from 0% to 28%, although in the most recent decade, all centers treated less than 6% of their patients, with an average of 2.9% across all centers. Undergoing a cervicomedullary decompression (CMD) was a strong predictor for treatment of hydrocephalus (OR 5.8, 95% CI 3.9-8.4), although that association has disappeared in those born since 2010 (OR 1.1, 95% CI 0.2-5.7). In patients born since 1990, treatment of hydrocephalus with endoscopic third ventriculostomy (ETV) has become more common; it was used as the first line of treatment in 38% of patients in the most recent decade. Kaplan-Meier analysis suggests that a single ETV will treat hydrocephalus in roughly half of these patients. CONCLUSIONS: While many children with achondroplasia have features of hydrocephalus with enlarged intracranial CSF spaces and relative macrocephaly, treatment of hydrocephalus in achondroplasia patients has become relatively uncommon in the last 20 years. Historically, there was a significant association between symptomatic foramen magnum stenosis and treatment of hydrocephalus, although concurrent treatment of both has fallen out of favor with the recognition that CMD alone will treat hydrocephalus in some patients. Despite good experimental data demonstrating that hydrocephalus in achondroplasia is best understood as communicating in nature, ETV appears to be reasonably successful in certain patients and should be considered an option in selected patients.

Cervicomedullary junction mature teratoma with pulmonary differentiation and diastematomyelia in an adult - A rare case.

Background: Intradural extramedullary teratomas in the cervical or cervicomedullary region are rare in adults. Case Description: We report a symptomatic, mature teratoma at the cervicomedullary junction in a 52-year-old Hispanic female who also has a type I diastematomyelia in the thoracolumbar spine. The patient underwent surgical resection of the lesion with the resolution of presenting symptoms. Histopathology of the lesion revealed a mature cystic teratoma with pulmonary differentiation. Conclusion: We discuss the case along with a review of pertinent literature and considerations with regard to the diagnosis, etiology, prognosis, and management of this unusual pathology.

Infant-type hemispheric glioma occurring at the cervicomedullary region in a 5-month-old infant: A case report with a special emphasis on molecular classification.

Background: High-grade gliomas in infancy are uncommon and have different clinical and molecular characteristics from those in adults. Recently, advances in molecular diagnostics have made progress in determining treatment strategies; however, the robust treatment has not yet been elucidated. We, herein, present a case of infantile glioma occurring at the cervicomedullary region. Case Description: A 5-month-old infant developed left upper limb weakness and torticollis at 3 months of age. Magnetic resonance imaging revealed T2 hyperintensity from the medulla oblongata to the upper cervical cord. She underwent a biopsy for the lesion and pathological examination findings confirmed the presence of a high-grade astrocytoma with IDH wildtype-, H3K27M wildtype-, BRAF wildtype-, and ETV-NTRK3 fusion-positivity. Postoperatively, she underwent chemoradiotherapy, but she had marked tumor growth during the treatment. According to the new World Health Organization classification, the patient's tumor is an infantile "hemispheric" glioma. Conclusion: The characteristics and prognosis of NTRK-fused glioma are not fully understood, it is noteworthy that these tumors commonly occur in the brainstem. Further studies are needed to determine the prognosis of each tumor type and its sensitivity to treatment. This information will help in the reclassification of the tumors and identification of the precise treatment of this rare type of tumor.

Corticospinal and spinal excitability during peripheral or central cooling in humans.

Cold exposure can impair fine and gross motor control and threaten survival. Most motor task decrement is due to peripheral neuromuscular factors. Less is known about cooling on central neural factors. Corticospinal and spinal excitability were determined during cooling of the skin (Tsk) and core (Tco). Eight subjects (four female) were actively cooled in a liquid perfused suit for 90 min (2 °C inflow temperature), passively cooled for 7 min, and then rewarmed for 30 min (41 °C inflow temperature). Stimulation blocks included 10 transcranial magnetic stimulations [eliciting motor evoked potentials (MEPs) which indicate corticospinal excitability], 8 trans-mastoid electrical stimulations [eliciting cervicomedullary evoked potentials (CMEPs) which indicate spinal excitability] and 2 brachial plexus electrical stimulations [eliciting maximal compound motor action potentials (Mmax)]. These stimulations were delivered every 30 min. Cooling for 90 min reduced Tsk to 18.2 °C while Tco did not change. At the end of rewarming Tsk returned to baseline while Tco decreased by 0.8 °C (afterdrop) (P < 0.001). Metabolic heat production was higher than baseline at the end of passive cooling (P = 0.01), and 7 min into rewarming (P = 0.04). MEP/Mmax remained unchanged throughout. CMEP/Mmax increased by 38% at end cooling (although increased variability at this time rendered the increase insignificant, P = 0.23) and 58% at end warming when Tco was 0.8 °C below baseline (P = 0.02). Cooling increased spinal excitability but not corticospinal excitability. Cooling may decrease cortical and/or supraspinal excitability which is compensated for by increased spinal excitability. This compensation is key to providing a motor task and survival advantage.

Progressive motor impairment from "critical" demyelinating lesions of the cervicomedullary junction.

BACKGROUND: Progressive motor impairment anatomically associated with a "critical" lesion has been described in primary demyelinating disease. Most "critical" lesions occur within the spinal cord. OBJECTIVE: To describe the clinical and radiological features of "critical" lesions of the cervicomedullary junction (CMJ). METHODS: Observational study on people presenting with a CMJ lesion associated with primary demyelinating disease-related progressive motor impairment. Clinical data were extracted by chart review. Brain and spinal cord magnetic resonance images were reviewed to characterize the CMJ lesion and determine additional demyelination burden. RESULTS: Forty-one people were included: 29 (71%) had progression from onset and 12 (29%) had a relapse onset (secondary progressive) course. Most had progressive hemiparesis (21 (51%)) or progressive quadriparesis (15 (37%)) with a median Expanded Disability Status Scale (EDSS) of 5.5 (2.0-8.5) at last follow-up. No "critical" CMJ lesion enhanced; most were bilateral (25 (61%)). Brain magnetic resonance images were otherwise normal in 16 (39%) or with a restricted demyelination burden in 15 (37%). Cervical and thoracic cord MRIs were without additional lesions in 25 (61%) and 22/37 (59%), respectively. CONCLUSION: CMJ "critical" lesions can correlate with progressive motor impairment even with few or no additional magnetic resonance imaging (MRI) lesions. Lesion location is an important determinant of progressive motor impairment in demyelinating disease.

Cranio-cervical junction malformation causing cord compression in infant with achondroplasia: a bigger picture.

INTRODUCTION: Achondroplasia is a genetic disorder known for short stature and skeletal abnormalities. CASE REPORT: We present a case of narrowing of the foramen magnum from a large opisthion extending to the spinal canal. CONCLUSION: Foramen magnum stenosis and cervicomedullary stenosis are potentially life threatening neurological manifestations of achondroplasia.

Clinical Manifestations of Chiari I Malformation.

Chiari 1 malformation (CM1) includes a spectrum of clinical manifestations. These signs and symptoms result from compression at the cervicomedullary junction and alteration in cerebrospinal fluid dynamics thus affecting several structures above, at, and below the cervicomedullary junction. Differences in presentation exist among different age groups and high clinical suspicion should be present in younger children. Additionally, CM1 can be associated with other diagnoses and can have unusual acute presentations that should be recognized to ensure excellent outcomes..

Imaging in Chiari I Malformation.

Chiari I Malformation represents a hindbrain anomaly best demonstrated radiographically with MRI. Brain and spine MRI provide optimal anatomic detail of cerebellar tonsillar descent below the foramen magnum and may reveal additional imaging features including ventriculomegaly (potentially leading to the diagnosis of hydrocephalus), characteristics of intracranial hypertension or hypotension, spinal cord syrinx, scoliosis, and/or tethered spinal cord. Specialized imaging sequences provide enhanced visualization of ventral and dorsal cervicomedullary cisterns and cerebrospinal fluid flow. Although these studies contribute critical information for evaluation, their impact on surgical decision-making remains uncertain. Additional radiographic measures (pBC2 and clival-axial angle) may impact surgical planning and risk assessment.

Structural Changes in the Cervicomedullary Junction in Adult Chiari Patients.

OBJECTIVE: To assess volumetric changes in the spinal cord at the cervicomedullary junction, diameter of the cervicomedullary cord, and width of the brainstem following posterior fossa decompression (PFD). METHODS: A retrospective analysis of adult patients with Chiari malformation who underwent PFD was performed. Segmentations were done on clinical quality T2-weighted cervical magnetic resonance images obtained before and after decompression using ITK-SNAP. Volumes of neural tissue within the cervicomedullary junction were evaluated from 10 mm cranial to the medullary beak to the cervical spinal cord at the level of the caudal endplate of the second cervical vertebra. The diameter of the cervicomedullary cord was calculated perpendicular to the spinal cord. The width of the brainstem was measured perpendicular to the clivus at the level of the basion. RESULTS: Twenty adult patients, a mean age of 49.55 years, were included. The cervical cord increased in volume by 13 mm3 to 338 mm3, with an average increase of 155 mm3 (P-value of 0.00002). The diameter of the cervicomedullary cord increased 10.30% 7 mm superior to the beak (P-value of 0.00074), 11.49% at the apex of the beak (P-value of 0.00082), 8.29% 7 mm inferior to the beak (P-value of 0.00075), and the brainstem increased 14.46% perpendicular to the clivus (P-value of 0.00109). The spinal cord at the inferior aspect of the C3 vertebra changed insignificantly (P-value of 0.10580). CONCLUSION: The volume of the cervical cord at the cervical-medullary junction, width of the cervicomedullary cord, and diameter of the brainstem increase following PFD.

Location-specific cutaneous electrical stimulation of the footsole modulates corticospinal excitability to the plantarflexors and dorsiflexors during standing.

Non-noxious electrical stimulation to distinct locations of the foot sole evokes location-specific cutaneous reflex responses in lower limb muscles. These reflexes occur at latencies that may enable them to be mediated via a transcortical pathway. Corticospinal excitability to the plantarflexors and dorsiflexors was measured in 16 participants using motor evoked potentials (MEPs). Spinal excitability was measured in eight of the original participants using cervicomedullary motor evoked potentials (CMEPs). Measurements were collected with and without preceding cutaneous stimulus to either the heel (HEEL) or metatarsal (MET) locations of the foot sole, and evoked potentials were elicited to coincide with the arrival of the cutaneous volley at either the motor cortex or spinal cord. Plantarflexor MEPs and CMEPs were facilitated with cutaneous stimulation to the HEEL for MEPs (soleus p = 0.04, medial gastrocnemius (MG) p = 0.017) and CMEPs (soleus p = 0.047 and MG p = 0.015), but they were unchanged following MET stimulation for MEPs or CMEPs. Dorsiflexor MEPs were unchanged with cutaneous stimulation at either location, but dorsiflexor CMEPs increased with cutaneous stimulation (p = 0.05). In general, the increase in CMEP amplitudes was larger than the increase in MEP amplitudes, indicating that an increase in spinal excitability likely explains most of the increase in corticospinal excitability. The larger change observed in the CMEP also indicates that excitability from supraspinal sources likely decreased, which could be due to a net change in the excitability of intracortical circuits. This study provides evidence that cutaneous reflexes from foot sole skin are likely influenced by a transcortical pathway.

Posttraumatic locked-in syndrome from combined brainstem and upper cervical injury in childhood: A case report.

Locked in syndrome (LIS) is a condition characterized by quadriplegia, lower cranial nerve palsies and mutism in which only vertical eye movements and upper eyelid movements are preserved while the patient's state of consciousness is intact. The most common cause of LIS is pontine infarction after vertebrobasilar system occlusion. We hereby present a case report of LIS secondary to cervicomedullary contusion after head trauma. Due to the possibility of neurological recovery, early and accurate diagnosis is important in posttraumatic nonvascular LIS cases and aggressive neurological and other systemic treatment and early neurological rehabilitaion options should also be eveluated. Neurological rehabilitaion of these ventilator dependent patients is difficult and should be improved.

5-HT2 receptor antagonism reduces human motoneuron output to antidromic activation but not to stimulation of corticospinal axons.

The intrinsic electrical properties of motoneurons strongly affect motoneuron excitability to fast-acting excitatory ionotropic inputs. Serotonin (5-HT) is a neurochemical that alters the intrinsic properties of motoneurons, whereby animal models and in vitro experiments indicate that 5-HT increases motoneuron excitability by activating 5-HT2 receptors on the somato-dendritic compartment. In the current study, we examined how antagonism of the 5-HT2 receptor affects motoneuron excitability in humans. We hypothesised that motoneuron excitability would be reduced. The 5-HT2 antagonist cyproheptadine was administered to 10 healthy participants in a double-blinded, placebo-controlled, crossover trial. Electrical cervicomedullary stimulation was used to deliver a synchronised excitatory volley to motoneurons to elicit cervicomedullary motor evoked potentials (CMEPs) in the surface electromyography (EMG) signal of the resting biceps brachii. Likewise, electrical peripheral nerve stimulation was used to generate antidromic spikes in motoneurons and cause recurrent discharges, which were recorded with surface EMG as F-waves in a resting hand muscle. Compared with placebo, we found that 5-HT2 antagonism reduced the amplitude and persistence of F-waves but did not affect CMEP amplitude. 5-HT2 antagonism also reduced maximal contraction strength. The reduced recurrent discharge of motoneurons with 5-HT2 antagonism suggests that 5-HT2 receptors modulate the electrical properties of the initial segment or soma to promote excitability. Conversely, as cyproheptadine did not affect motoneuron excitability to brief synaptic input, but affected maximal contractions requiring sustained input, it seems likely that the 5-HT2 -mediated amplification of synaptic input at motoneuron dendrites is functionally significant only when excitatory input activates persistent inward currents.

Cervicomedullary Gliomas in Pediatric Age: A Systematic Review of the Literature and Tertiary Care Center Experience.

INTRODUCTION: Cervicomedullary gliomas (CMGs) are usually low-grade tumors often found in the pediatric age. Histological findings, treatments, and classification have been much the same for 40 years, although histological and molecular classifications have largely been developed for other pediatric CNS tumors. The management and treatment of pediatric CMG are still conducted by many authors according to their anatomical location and characteristics, independently from histology. METHODS: We conducted a literature review in PubMed (Medline) to identify relevant contributions about pediatric CMG published until December 31, 2021. We also analyzed a series of 10 patients with CMG treated from 2006 to 2021 at IRCCS Istituto Nazionale dei Tumori. The aim of the present review was to see whether and how the diagnosis, treatment, and classification of CMGs in children have developed over time, especially in the context of molecular advancements, and to analyze our single-center experience in the last 15 years. RESULTS: Thirty articles have been included in the review. Articles have been divided into two historical periods (1981-2000 and 2001-2021) and data from different series were analyzed to see how much the management and treatment of pediatric CMG have changed during years. Analysis of our series of 10 patients affected by CMG was also performed to compare it with the literature. DISCUSSION: Management and classification of CMG in children have not dramatically changed during years. However, new insight from molecular diagnostics and target therapies and the development of radiological, neurophysiological, and radiotherapy techniques have updated treatment modalities in the last 20 years. Treatment modalities and their innovations have been reviewed and discussed. Further studies are needed to standardize and customize treatment protocols for these tumors.

Cervicomedullary glioblastoma: A report of two cases with review of literature.

Background: Cervicomedullary glioblastoma is an extremely rare clinical entity and the principles of its management are not well understood. Case Description: We report two cases of cervicomedullary glioblastoma in young patients aged 12 and 30 years with contrasting clinical presentation and outcomes. The 12-year-old child had rapid onset bulbar symptoms, with frank infiltration of the medulla due to which the patient succumbed within 4 weeks of surgery. The 30-year-old adult had a relatively slow disease onset and progression and made a good neurological recovery without disease progression at 16 months after surgery. To the best of our knowledge, we also report only the second adult patient in the literature with a dorsally exophytic cervicomedullary glioblastoma. Difficulties in diagnosis and management are discussed with a review of the pertinent literature. Conclusion: The overall outcome depends on the rapid progression and severity of preoperative symptoms and the degree of tumor infiltration noted in imaging and during surgery.

Intramedullary schwannoma of cervicomedullary junction: A case report.

BACKGROUND: Intramedullary schwannomas of brain stem and spinal cord are extremely rare. In almost all cases, homogeneous, asymmetrical or circular intensive gadolinium enhancement has been demonstrated. However, no cases reported previously with minimal contrast enhancement in cervicomedullary junction. CASE DESCRIPTION: A 38-year old man presented with a one-month history of constant, radiative right shoulder and arm pain. There was no pathological finding in his neurological examination. Also, physical evidence or family history of neurofibromatosis was not found. Magnetic resonance imaging of brain and cervical spine showed intramedullary, solid-cystic lesion localized in the cervicomedullary junction with unobvious gadolinium enhancement. The mass was gross totally resected through a sub-occipital craniotomy via midline approach. Postoperative pathological examination confirmed diagnosis of schwannoma. No changes were detected in the neurological examination of the patient after the operation. CONCLUSIONS: There are 3 previously reported intramedullary schwannomas of the cervicomedullary junction in the literature. To the best of our knowledge, this is the first case of unobvious contrast enhancing intramedullary schwannoma of the cervicomedullary junction. The possibility of schwannoma should not be excluded when a mass with slight contrast enhancement is detected in the intramedullary region of the cervicomedullary junction.

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.