Cervicomedullary Junction Research Articles

Unravelling the pathogenesis of foramen magnum stenosis in patients with severe achondroplasia: a CT-based comparison with age-matched controls and FGFR3 craniosynostosis syndromes.

Foramen magnum(FM) stenosis can be responsible for acute and chronic damage to the cervicomedullary junction in children with achondroplasia. The bony anatomy and patterns of suture fusion of the FM in this context are incompletely understood, yet becoming increasingly important in the light of novel medical therapies for achondroplasia. The objective of this study was to describe and quantify bony anatomy and fusion patterns of FM stenosis in patients with achondroplasia using CT scans, comparing them to age-matched controls and other FGFR3 craniosynostosis patients. Patients with achondroplasia and severe FM stenosis, classified as achondroplasia foramen magnum score(AFMS) grades 3 and 4, were identified from a departmental operative database. All had pre-operative CT scans of the craniocervical junction. Measurements obtained comprised sagittal diameter (SD), transverse diameter (TD), foramen magnum area, and opisthion thickness. Anterior and posterior interoccipital synchondroses (AIOS and PIOS) were graded by the extent of fusion. These measurements were then compared with CT scans from 3 age-matched groups: the normal control group, children with Muenke syndrome, and children with Crouzon syndrome with acanthosis nigricans (CSAN). CT scans were reviewed in 23 cases of patients with achondroplasia, 23 normal controls, 20 Muenke, and 15 CSAN. Children with achondroplasia had significantly smaller sagittal diameter (mean 16.2 ± 2.4mm) compared to other groups (control 31.7 ± 2.4mm, p < 0.0001; Muenke 31.7 ± 3.5mm, p < 0.0001; and CSAN 23.1 ± 3.4mm, p < 0.0001) and transverse diameters (mean 14.3 ± 1.8mm) compared with other groups (control 26.5 ± 3.2mm, p < 0.0001; Muenke 24.1 ± 2.6mm, p < 0.0001; CSAN 19.1 ± 2.6mm, p < 0.0001). This translated into a surface area which was 3.4 times smaller in the achondroplasia group compared with the control group. The median grade of the AIOS fusion achondroplasia group was 3.0 (IQR 3.0-5.0), which was significantly higher compared with the control group (1.0, IQR 1.0-1.0, p < 0.0001), Muenke group (1.0, IQR 1.0-1.0, p < 0.0001), and CSAN (2.0, IQR 1.0-2.0, p < 0.0002). Median PIOS fusion grade was also highest in the achondroplasia group (5.0, IQR 4.0-5.0) compared with control (1.0, IQR 1.0-1.0, p < 0.0001), Muenke (2.5, IQR 1.3-3.0, p < 0.0001), and CSAN (4.0, IQR 4.0-4.0, p = 0.2). Distinct bony opisthion spurs projecting into the foramen magnum were seen in achondroplasia patients but not others, resulting in characteristic crescent and cloverleaf shapes. Patients with AFMS stages 3 and 4 have significantly reduced FM diameters, with surface area 3.4 times smaller than age-matched controls. This is associated with premature fusion of the AIOS and PIOS in comparison with controls and other FGFR3-related conditions. The presence of thickened opisthion bony spurs contributes to stenosis in achondroplasia. Understanding and quantifying bony changes at the FM of patients with achondroplasia will be important in the future quantitative evaluation of emerging medical therapies.

0980 A Child with Achondroplasia, Cervicomedullary Junction Compression, Severe Obstructive Sleep Apnea and Pulmonary Hypertension

Abstract Introduction Achondroplasia is a short stature autosomal dominant skeletal dysplasia. Children with Achondroplasia are at risk for multiple medical comorbidities including sleep disordered breathing due to midface hypoplasia and craniocervical junction compression. Recent guidelines from American Academy of Pediatrics on health supervision of children with achondroplasia recommend routine clinical screening for symptoms of obstructive sleep apnea (OSA) and craniocervical junction compression in which case a polysomnogram should be considered. Report of case(s) The patient is a now 15 month old male who was initially seen in sleep medicine clinic at age 4 months for snoring and respiratory distress while awake. Polysomnogram 2 days later demonstrated severe OSA. The study demonstrated an oAHI of 25.1/hour, O2 nadir of 77%, and TcCO2 with evidence of significant hypoventilation with TcCO2 max of 67mmHg. This was adequately treated with supplemental oxygen. The patient subsequently presented to the emergency department at age 7 months with hypoxemic respiratory failure and signs of right heart failure and was started on CPAP. Echocardiogram demonstrated significant pulmonary hypertension. Subsequent CPAP titration study during admission demonstrated adequate treatment of OSA and his pulmonary hypertension significantly improved with the patient requiring no pulmonary hypertension treatment at discharge. At age 9 months, the patient was again admitted with hypoxemic respiratory failure and subsequent brain MRI demonstrated foramen magnum stenosis requiring subsequent surgical decompression. He was discharged on CPAP, however, was not tolerating this at home. Therefore, repeat polysomnogram was obtained that demonstrated severe OSA that was not responsive to supplemental oxygen. The patient was then started on BPAP therapy which he has since been tolerating well. Conclusion Children with achondroplasia are at increased risk for sleep disordered breathing and craniocervical junction compression. Our patient experienced significant complications from OSA at a young age. His sleep apnea worsened significantly in a short period making it unresponsive to previous treatment recommendations. There is a need for further studies to determine better screening guidelines for craniocervical junction narrowing and OSA. This case highlights the dynamic nature of sleep disordered breathing in achondroplasia and need for close follow up and monitoring of symptoms at all clinical encounters. Support (if any)

Two Sinister in Concert: Behcet’s Disease – A Rare Combination of Manifestations Simultaneously

Behcet’s disease has diverse neurological manifestations, leading to parenchymal and nonparenchymal sequelae. The ocular manifestations include anterior and posterior uveitis, panuveitis, retinal vasculitis, and retinal vein thrombosis. However, substantial parenchymal neurological disease, panuveitis, and retinal vein thrombosis presentation at the same time are extremely rare in one patient. Here, we describe a case of a 27-year-old male who presented in the emergency department with complaints of difficulty in walking, headache, and slurred speech for 1 week. He had a background history of redness and decreased vision in the right eye for 10 days and recurrent oral and genital ulcers since childhood. His lumbar puncture showed aseptic meningitis, and magnetic resonance (MR) imaging of the brain showed widespread signal alteration, multiple cerebral, cerebellum, thalamus, brain stem, and cervicomedullary junction foci/areas of MR signal alteration with signal behavior as above described, likely as vasculitis. Human leukocyte antigen-B51 came to be positive. The patient was given pulse methylprednisolone and immunosupressant with a rapid improvement of symptoms.

Effects of trunk neuromuscular electrical stimulation on the motor circuits of able-bodied individuals

Upper- and lower-limb neuromuscular electrical stimulation (NMES) is known to modulate the excitability of the neural motor circuits. However, it remains unclear whether short-duration trunk muscle NMES could achieve similar neuromodulation effects. We assessed motor evoked potentials (MEPs) elicited through transcranial magnetic stimulation of the primary motor cortex representation of the trunk extensor muscles to evaluate corticospinal excitability. Moreover, cervicomedullary motor evoked potentials (CMEPs) were assessed through cervicomedullary junction magnetic stimulation to evaluate subcortical excitability. Twelve able-bodied individuals participated in the MEP study, and another twelve in the CMEP study. During the interventions, NMES was applied bilaterally to activate the erector spinae muscle and produce intermittent contractions (20 s ON/20 s OFF) for a total of 20 min while participants remained seated. Assessments were performed: (i) before; (ii) during (in brief periods when NMES was OFF); and (iii) immediately after the interventions to compare MEP or CMEP excitability. Our results showed that MEP responses were not affected by trunk NMES, while CMEP responses were facilitated for approximately 8 min during the intervention, and returned to baseline before the end of the 20 min stimulating period. Our findings therefore suggest that short-duration NMES of the trunk extensor muscles likely does not affect the corticospinal excitability, but it has a potential to facilitate subcortical neural circuits immediately after starting the intervention. These findings indicate that short-duration application of NEMS may be helpful in rehabilitation to enhance neuromodulation of the trunk subcortical neural motor circuits.

Reappraisal of intradural findings in Chiari malformation type I.

Management of Chiari malformation type I (CM-I) requires the functional restoration of an obstructed cisterna magna. In posterior fossa decompression with duraplasty (PFDD), various intradural pathologies are suggested to alter CSF flow at the craniocervical junction and require surgical correction. However, reports of the spectrum of intraoperative intradural findings and their nuances are scarce, especially those characterizing rarer findings pertaining to the vascular structures and vascular compression. The authors conducted a retrospective cohort analysis of adults and children who underwent first-time PFDD for CM-I (2011-2021), with and without syringomyelia. The surgical reports and intraoperative videos were reviewed, and the frequency and nature of the intradural observations in regard to the tonsils, arachnoid, and vasculature were analyzed along with the clinical findings and surgical outcomes. All 180 patients (age range 1-72 years; median [interquartile range] 24 (14-38) years; 37% of patients were children < 21 years of age) exhibited multiple intradural findings, with a median of 7 distinct concurrent observations in each patient. Novel findings not previously reported included posterior inferior communicating artery (PICA) branches compressing the neural elements at the cervicomedullary junction (26.7%). Other common findings included arachnoid adhesions (92.8%), thickening (90.6%), webs at the obex (52.2%), tonsillar gliosis (57.2%), tonsillar hypertrophy (18.3%), adhesions obstructing the foramen of Magendie (FoM) (62.2%), PICA obstruction of the FoM (17.2%), and dural scarring (87.8%). Tonsillar gliosis and intertonsillar adhesions obstructing the FoM were more common in children than adults. Tonsillar gliosis and arachnoid webs were more common among syringomyelia patients. After multivariable adjustment, none of the observed findings were independently associated with syringomyelia, preoperative symptoms, or postoperative improvement. The vast majority of patients improved postoperatively. The complication rate was low: 1.2% of patients required revision PFDD at > 3 years postoperatively, 3.6% experienced other operative complications, and 0% had CSF leaks. The diversity of intradural findings and observations revealed in this study suggests that obstructive and compressive structural anomalies may be more common than previously reported among CM-I patients, both those patients with and those without syringomyelia and especially those with obstructive and compressive PICA branches. Although the authors cannot conclude that all these findings are necessarily pathological, further study may determine how they contribute to CM-I pathology and symptomatology in the setting of a compromised cisterna magna.

Increased paired stimuli enhance corticospinal-motoneuronal plasticity in humans with spinal cord injury.

Paired corticospinal-motoneuronal stimulation (PCMS) has been used to enhance corticospinal excitability and functional outcomes in humans with spinal cord injury (SCI). Here, we examined the effect of increasing the number of paired pulses on PCMS-induced plasticity. During PCMS, corticospinal volleys evoked by transcranial magnetic stimulation (TMS) over the hand motor cortex were timed to arrive at corticospinal-motoneuronal synapses of the first dorsal interosseous (FDI) muscle 1-2 ms before the arrival of antidromic potentials elicited in motoneurons by electrical stimulation of the ulnar nerve. We tested motor-evoked potentials (MEPs) elicited by TMS over the hand motor cortex and electrical stimulation at the cervicomedullary junction (CMEPs) in the FDI muscle before and after 180 paired pulses (PCMS-180) followed up by another 180 paired pulses (PCMS-360) in humans with and without chronic incomplete cervical SCI. The nine-hole-peg-test (9HPT) was measured before and after PCMS paired pulses in individuals with SCI. We found that the size of MEPs and CMEPs increased after PCMS-180 in both groups compared with baseline and further increased after PCMS-360 in participants with SCI, suggesting a spinal origin for these effects. Notably, in people with SCI, the time to complete the 9HPT decreased after PCMS-180 and further decreased after PCMS-360 compared with baseline but not when the 9HPT was repeated overtime. Our findings demonstrate that increasing the number of PCMS paired pulses potentiates corticospinal excitability and voluntary motor output after SCI, likely through spinal plasticity. This proof-of-principle study suggests that increasing the PCMS dose represents a strategy to boost voluntary motor output after SCI.NEW & NOTEWORTHY Paired corticospinal-motoneuronal stimulation (PCMS) has been used to enhance corticospinal excitability and functional outcomes in humans with spinal cord injury (SCI). Here, we demonstrate that 360 paired pulses resulted in larger increases in motor-evoked potential size in a hand muscle and in a better ability to complete the nine-hold-peg-test compared with 180 paired pulses in people with SCI. This proof-of-principle study suggests that increasing the PCMS dose represents a strategy to boost motor output after SCI.

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..

Structural Changes in the Cervicomedullary Junction in Adult Chiari Patients

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). 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 10mm 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. Twenty adult patients, a mean age of 49.55 years, were included. The cervical cord increased in volume by 13mm3 to 338mm3, with an average increase of 155mm3 (P-value of 0.00002). The diameter of the cervicomedullary cord increased 10.30% 7mm superior to the beak (P-value of 0.00074), 11.49% at the apex of the beak (P-value of 0.00082), 8.29% 7mm 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). The volume of the cervical cord at the cervical-medullary junction, width of the cervicomedullary cord, and diameter of the brainstem increase following PFD.

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.

Myelitis Following COVID-19 Illness

COVID-19 occurs due to infection by the SARS-CoV-2 virus (severe acute respiratory syndrome coronavirus 2), which has caused havoc globally. It presents with a wide range of symptoms, mainly respiratory symptoms, but with time various neurological manifestations of the disease have also been noted, like myelitis. This case report aims to shed light on COVID-19-associated myelitis so that potential neurological complications of COVID-19 can be identified and treated timely. We report a case of a 41-year-old male who presented with weakness of all limbs with urinary complaints. He also had a cough and sore throat for the past few days. The MRI scan of the spine showed long segment myelitis in the cervical cord extending from the cervicomedullary junction to the upper end of the C4 vertebral body. COVID-19 myelitis is a rare but severe complication of COVID-19 infection and needs to be discussed.

Role of imaging in craniovertebral junction abnormalities

Background: Craniovertebral junction (CVJ) abnormalities constitute an important group of treatable neurological disorders with diagnostic dilemma. Their precise diagnosis and pre-treatment evaluation significantly affects prognosis and quality of life of patients. Aims: To localize, describe and characterize craniovertebral junction abnormalities, arrange frequently detected CVJ pathologic imaging findings and to emphasize clinical implications to improve our radiological report. Materials and methods: A Cross sectional study done for 24 months in 50 patients of all age groups with clinical suspicion of CVJ abnormalities.Results: In the acquired CVJ abnormality Trauma is the most common etiology(n=15) followed by Tuberculosis(n=4), Rheumatoid arthritis(n=3), Tumors(n=2). Most common age group involved was 2nd decade with male predominance. Most commonly presenting symptom is weakness of limbs followed by neck pain. Most common imaging abnormality is cervicomedullary junction compression and atlanto axial dislocation. ACM I and Syringomyelia are the commonest neural anomalies associated with bony CVJ anomalies. Most common congenital anomalies are atlanto axial dislocation followed by basilar invagination. Only one patient had syndromic association which was Klippel-feil syndrome. The commonest injuries involving the CVJ were odontoid fracture predominantly type II and the commonest combination of injury was C1 with odontoid fracture.

Adjunct diagnostic value of radiological findings in mucopolysaccharidosis type IVa-related thoracic spinal abnormalities: a pilot study

BackgroundIn patients with mucopolysaccharidosis (MPS), systematic assessment and management of cervical instability, cervicomedullary and thoracolumbar junction spinal stenosis and spinal cord compression averts or arrests irreversible neurological damage, improving outcomes. However, few studies have assessed thoracic spinal involvement in MPS IVa patients. We aimed to evaluate thoracic spinal abnormalities in MPS IVa patients and identify associated image manifestations by CT and MRI study.ResultsData of patients diagnosed and/or treated for MPS IVa at MacKay Memorial Hospital from January 2010 to December 2020 were extracted from medical records and evaluated retrospectively. Computed tomography (CT), plain radiography and magnetic resonance imaging (MRI) findings of MPS IVa-related spinal abnormalities were reviewed. Spine CT and plain radiography findings of 12 patients (6 males and 6 females with median age 7.5 years, range 1–28 years) revealed two subtypes of spinal abnormalities: thoracic kyphosis apex around T2 (subtype 1, n = 8) and thoracic kyphosis apex around T5 (subtype 2, n = 4). Spine CT and plain radiography clearly identified various degrees of thoracic kyphosis with apex around T2 or T5 in MPS IVa patients. Square-shaped to mild central beaking in middle thoracic vertebral bodies was observed in subtype 1 patients, while greater degrees of central beaking in middle thoracic vertebral bodies was observed in subtype 2 patients.ConclusionsSpine CT findings clearly identify new radiological findings of thoracic kyphosis apex around T2 or T5 in MPS IVa patients. The degrees of central beaking at middle thoracic vertebral bodies may be a critical factor associated with different image presentations of thoracic kyphosis.

Cervicomedullary junction intramedullary hemangioblastoma

Hemangioblastoma is a rare, benign, highly vascularized tumour, that usually presents a muriform nodule. The most frequent localization is the posterior cranial fossa. The frequency of this spinal lesion is very low, representing less than 5% of spinal cord tumours. The presentation of hemangioblastoma can widely vary, from a solid tumour to a lesion with a cystic component. We present the case of a 43 years old patient, admitted to our clinic for left hemiparesis, swallowing disorders, and dysphonia. An MRI is performed and it showed a cervicomedullary junction tumour with a solid nodule and an anterior cystic cavity pushing towards the 4th ventricle. The patient underwent surgery for the total removal of the tumour. Post-operative CT confirmed the total ablation of the tumour. The patient is discharged with improved symptomatology. In the last 10 years, in our clinic were admitted 23 cases of hemangioblastoma, 14 males (61% of the patients) and 9 females (39%) with an age at presentation varied from 14 to 78 years (mean 48,2 years). Only 3 patients (13%) out of the 23 had associated von Hippel–Lindau syndrome, with hemangioblastomas also present in other locations. The most common location was the posterior fossa, in 13 cases (56,6%). Headache (69,5%), ataxia (56%) and balance disorders (52%) were the most common symptoms accused by patients. The follow-up varied from 6 to 84 months (mean 20 months). Only one patient died during hospitalization and one tumour recurrence was noted. Most patients improved or remained clinically stable postoperatively.

Vertebrobasilar Dolichoectasia Resulting in Displacement of the Cervicomedullary Junction

A man in his 60s presented with a 6-month history of progressive gait instability, changes in speech, and dysequilibrium. Neurologic examination revealed an ataxic dysarthria, reduced palate elevation on the right, and marked truncal ataxia with postural instability. Magnetic resonance imaging of the brain revealed a dolichoectatic right-dominant vertebrobasilar system with mass effect resulting in flattening of the ventral medulla and displacement of the cervicomedullary junction (Figure). Extensive evaluation to explore genetic, infectious, inflammatory, metabolic, and neurodegenerative causes of progressive ataxia was unrevealing.

Spinal involvement in pediatric familial cavernous malformation syndrome.

The aim of the study was to assess the prevalence and characteristics of spinal cord cavernous malformations (SCCM) and intraosseous spinal vascular malformations (ISVM) in a pediatric familial cerebral cavernous malformation (FCCM) cohort and evaluate clinico-radiological differences between children with (SCCM +) and without (SCCM-) SCCM. All patients with a pediatric diagnosis of FCCM evaluated at three tertiary pediatric hospitals between January 2010 and August 2021 with [Formula: see text] 1 whole spine MR available were included. Brain and spine MR studies were retrospectively evaluated, and clinical and genetic data collected. Comparisons between SCCM + and SCCM- groups were performed using student-t/Mann-Whitney or Fisher exact tests, as appropriate. Thirty-one children (55% boys) were included. Baseline spine MR was performed (mean age = 9.7years) following clinical manifestations in one subject (3%) and as a screening strategy in the remainder. Six SCCM were detected in five patients (16%), in the cervico-medullary junction (n = 1), cervical (n = 3), and high thoracic (n = 2) regions, with one appearing during follow-up. A tendency towards an older age at first spine MR (P = 0.14) and [Formula: see text] 1 posterior fossa lesion (P = 0.13) was observed in SCCM + patients, lacking statistical significance. No subject demonstrated ISVM. Although rarely symptomatic, SCCM can be detected in up to 16% of pediatricFCCM patients using diverse spine MR protocols and may appear de novo. ISVM were instead absent in our cohort. Given the relative commonality of asymptomatic SCCM, serial screening spine MR should be considered in FCCM starting in childhood.

3-Dimensional Fluid and White Matter Suppression Magnetic Resonance Imaging Sequence Accelerated With Compressed Sensing Improves Multiple Sclerosis Cervical Spinal Cord Lesion Detection Compared With Standard 2-Dimensional Imaging.

Fluid and white matter suppression (FLAWS) is a recently proposed magnetic resonance sequence derived from magnetization-prepared 2 rapid acquisition gradient-echo providing 2 coregistered datasets with white matter- and cerebrospinal fluid-suppressed signal, enabling synthetic imaging with amplified contrast. Although these features are high potential for brain multiple sclerosis (MS) imaging, spinal cord has never been evaluated with this sequence to date. The objective of this work was therefore to assess diagnostic performance and self-confidence provided by compressed-sensing (CS) 3-dimensional (3D) FLAWS for cervical MS lesion detection on a head scan that includes the cervical cord without changing standard procedures. Prospective 3 T scans (MS first diagnosis or follow-up) acquired between 2019 and 2020 were retrospectively analyzed. All patients underwent 3D CS-FLAWS (duration: 5 minutes 40 seconds), axial T 2 turbo spin echo covering cervical spine from cervicomedullary junction to the same inferior level as FLAWS, and sagittal cervical T 2 /short tau inversion recovery imaging. Two readers performed a 2-stage double-blind reading, followed by consensus reading. Wilcoxon tests were used to compare the number of detected spinal cord lesions and the reader's diagnostic self-confidence when using FLAWS versus the reference 2D T 2 -weighted imaging. Fifty-eight patients were included (mean age, 40 ± 13 years, 46 women, 7 ± 6 years mean disease duration). The CS-FLAWS detected significantly more lesions than the reference T 2 -weighted imaging (197 vs 152 detected lesions, P < 0.001), with a sensitivity of 98% (T 2 -weighted imaging sensitivity: 90%) after consensual reading. Considering the subgroup of patients who underwent sagittal T2 + short tau inversion recovery imaging (Magnetic Resonance Imaging for Multiple Sclerosis subgroup), +250% lesions were detected with FLAWS (63 vs 25 lesions detected, P < 0.001). Mean reading self-confidence was significantly better with CS-FLAWS (median, 5 [interquartile range, 1] [no doubt for diagnosis] vs 4 [interquartile range, 1] [high confidence]; P < 0.001). Imaging with CS-FLAWS provides an improved cervical spinal cord exploration for MS with increased self-confidence compared with conventional T 2 -weighted imaging, in a clinically acceptable time.

Mixed Connective Tissue Disease Presenting as Longitudinal Extensive Transverse Myelitis and Vasculitic Neuropathy

Mixed connective tissue disease (MCTD) is described as an entity with mixed features of systemic lupus erythematosus, systemic sclerosis, polymyositis/ dermatomyositis, and rheumatoid arthritis together with the presence of high-titre anti-U1 small nuclear and anti-ribonucleoprotein (anti-RNP) antibodies. Here, we present a case of an 18-year-old female patient who presented with quadriparesis, sensory loss in all four limbs, and trophic ulcers. Laboratory investigations were strongly positive for ANA, KU, SM/RNP, SM, SSA, and RIBOSOME P protein. MRI brain showed diffuse T2 hyperintensity in the spinal cord extending from cervicomedullary junction to conus with a subtle expansion of cord. A diagnosis of longitudinal extensive transverse myelitis and vasculitic neuropathy in the case of MCTD was made.

Post-Traumatic Syringomyelia: A Case Series

It is relatively common to occur in a Tertiary Care Neurosurgical setup to get a case of Syringomyelia proximal or distal to a space-occupying lesion (SOL) or site of spinal cord compression. In this case series, we are presenting two cases in which syringomyelia developed after traumatic spinal cord injury. On initial radiological investigations, the first case presented as an old D12 fracture with Post-traumatic syrinx formation but on complete workup for the extent of the syrinx, another lesion was found incidentally in the form of an intradural extramedullary SOL at the level of cervicomedullary junction. The SOL turned out histologically as WHO Grade I Meningioma. The second case presented as syrinx formation after gunshot (fire-arm) penetrating spinal cord injury to the D11-12 vertebrae. Treatment plans of both these patients are presented here in detail along with the literature review.

Compressive Myelopathy Secondary to TRPV4 Skeletal Dysplasia: Spondylometaphyseal Dysplasia, Kozlowski Type.

Transient receptor potential vanilloid 4 channel ( TRPV4 ) gene mutations have been described in skeletal system and peripheral nervous system pathology. The case described here is a 9-year-old male child patient, born to a nonconsanguineous marriage with normal birth history who had difficulty in walking and stiffness of joints for the last 7 years, and progressive weakness of all four limbs and urine incontinence for 1 year following falls. Physical examination showed below-average weight and height and short trunk. Musculoskeletal examination revealed bony prominence bilaterally in the knee joints and contractures in knee and elbow joints with brachydactyly; muscle tone was increased, with brisk deep tendon reflexes. Skeletal survey showed platyspondyly with anterior beaking with metaphyseal dysplasia. Magnetic resonance imaging of the spine revealed atlantoaxial instability with hyperintense signal changes at a cervicomedullary junction and upper cervical cord with thinning and spinal canal stenosis suggestive of compressive myelopathy with platyspondyly and anterior beaking of the spine at cervical, thoracic and lumbar vertebrae. Exome sequencing revealed a heterozygous de novo variant c.2389G > A in exon 15 of TRPV4 , which results in the amino acid substitution p.Glu797Lys in the encoded protein. The characteristics observed indicated spondylometaphyseal dysplasia, Kozlowski type (SMD-K). The child underwent surgical intervention for compressive myelopathy by reduction of atlantoaxial dislocation with C1 lateral mass and C2 pars fusion using rib graft and fixation using screws and rods. To conclude, for any child presenting with progressive kyphoscoliosis, short stature, platyspondyly, and metaphyseal changes, a diagnosis of SMD-K should be considered and the patient and family should be advised to avoid spinal injuries.

Degenerative occipitocervical dislocation – Uncommon entity at extreme of Life: A case report and review of literature

Traumatic occipitocervical dislocation (OCD) has been reported numerous times both in children and adults. Nontraumatic OCD is rare. An 85-year-male referred with 2 months history of motor and sensory complaints in all four limbs. There was no history of trauma. Neck movements were restricted. A lateral radiograph of the cervical spine was suggestive of extensive degenerative changes in the cervical spine. Computed tomography scan of the cervical spine revealed posterior OCD with degenerative changes. Magnetic resonance imaging revealed compressive myelopathy at the cervico-medullary junction. Posterior occipitocervical fixation was performed. His neurological symptoms significantly improved. The procedure resulted in an excellent immediate and long-term clinical outcome.