[Clinical evaluation methods for craniovertebral junction abnormalities].

Craniovertebral junction malformation is a congenital malformation located in the foramen magnum and upper cervical spine, including bone and nerve malformation, resulting in motor and sensory disorders, cerebellar and lower cranial nerves, etc. The evaluation methods of clinical symptoms and efficacy of craniovertebral junction malformation are important for the surgical indications and effects, mainly including the evaluation of clinical symptoms and the quality of life. At present, the commonly used methods in clinical work and literature are the Japanese orthopaedic association scores, visual analogue scales, 36-item short-form health survey, etc. Most of these clinical evaluations are not aimed at craniovertebral junction diseases but focus on the description of a certain type of clinical symptoms. Chicago Chiari outcome scale and syringomyelia outcome scale of Xuanwu hospital are dedicated to Craniovertebral junction malformation, but more clinical studies are needed to prove their effectiveness. Based on the literature reports, this article reviewed the previous clinical evaluation methods of craniovertebral junction malformation and discusses their applications and limitations.

Spinal cord tethering and syringomyelia after trauma: impact of age and surgical outcome.

Posttraumatic spinal cord tethering and syringomyelia frequently lead to progressive neurological loss. Although several studies demonstrated favourable outcome following spinal cord detethering with/without shunting, additional research is required as no clear consensus exists over the ideal treatment strategy and knowledge about prognostic demographic determinants is currently limited. In this investigation, we retrospectively investigated 67 patients (56 men, 11 women) who were surgically treated and followed for symptomatic spinal cord tethering and syringomyelia from 2012 to 2022 at our center. Age (B-coefficient 0.396) and severity of trauma to the spinal cord (B-coefficient - 0.462) have been identified as independent predictors for the rate of development of symptomatic spinal cord tethering and syringomyelia (p < 0.001). Following untethering surgery including expansion duraplasty with/without shunting, 65.9% of patients demonstrated an improvement of neurological loss (p < 0.001) whereas 50.0% of patients displayed amelioration of spasticity and/or neuropathic pain (p < 0.001). Conclusively, active screening for symptomatic spinal cord tethering and syringomyelia, particularly in younger patients with severe spinal trauma, is crucial as surgical untethering with/without shunting is able to achieve favourable clinical outcomes. This knowledge may enable clinicians to tailor treatment strategies in spinal cord injury patients suffering from progressive neurological loss towards a more optimal and personalized patient care.

Juvenile scoliosis as the first manifestation of syringomyelia associated with Chiari malformation type I.

BACKGROUND: Scoliosis is a spinal deformity that usually manifests as a structural curve determining a variable deformity of the trunk. According to some published series, 4 to 26% of scoliosis initially classified as idiopathic show neurological alterations when studied with nuclear magnetic resonance, such as syringomyelia and Chiari malformation, among the most frequent. Chiari malformations are characterized by descending herniation of the cerebellar tonsils, brainstem, and IV ventricle into the spinal canal. CASE REPORT: We present the case of a patient whose first symptomatic manifestation was early-onset scoliosis. The overlapping of some physical examination signs, such as postural lateralization and scoliosis, reinforced the active suspicion of neuroaxis alterations. CONCLUSIONS: Early childhood-onset scoliosis should raise a high degree of suspicion for association with neuro-spinal diseases. Although the frequency of Chiari malformation is low, its early approach could reduce the progression of associated comorbidities. An early detection could change the prognosis of the disease.

INTRODUCCIÓN: La escoliosis es una deformidad de la columna que usualmente se manifiesta como una curva estructural que determina una deformidad variable del tronco. Las malformaciones de Chiari se caracterizan por la herniación descendente de las amígdalas cerebelosas, tronco encefálico y IV ventrículo hacia el canal espinal. Según algunas series publicadas, del 4 al 26% de las escoliosis inicialmente catalogadas como idiopáticas muestran alteraciones neurológicas al ser estudiadas con resonancia magnética nuclear, como la siringomielia y malformación de Chiari, dentro de las más frecuentes. CASO CLÍNICO: Se presenta el caso de un paciente cuya primera manifestación sintomática fue escoliosis de comienzo temprano. El solapamiento de algunos signos del examen físico, como la lateralización de la postura y la escoliosis, reforzaron la sospecha activa de alteraciones del neuroeje. CONCLUSIONES: La escoliosis de inicio temprano en la infancia debe despertar un alto grado de sospecha de asociación con enfermedades neuro-espinales. Dentro de este contexto, aunque malformación Chiari es de baja frecuencia, su abordaje precoz permitiría disminuir la progresión de comorbilidades asociadas. La detección temprana podría cambiar el pronóstico de la enfermedad.

A Rare Case Report of Eight Syndrome Secondary to Syringomyelia Associated with Type I Chiari Malformation.

Eight syndrome is defined as the combination of a unilateral conjugate gaze palsy and ipsilateral seventh cranial nerve palsy. It may occur as a result of demyelinating, vascular, infectious, or compressive lesions of the brainstem localized to the caudal pontine tegmentum. A 43-year-old woman was admitted to our clinic with complaints of headache, inability to look to the left, and weakness on the left side of her face. The complaints had begun abruptly about a month before her admission. Suboccipital decompression surgery for type I Chiari malformation had been performed 10 years earlier. Neuro-ophthalmological examination revealed left-sided horizontal gaze palsy and anisocoria. Cranial and cervical magnetic resonance images revealed cerebellar tonsillar herniation and syringomyelia, the latter of which was considered to be the cause of eight syndrome. No interventions were performed, and periodic follow-up was advised on neurosurgical consultation. Left gaze palsy and facial palsy recovered almost completely in three months, while the anisocoria persisted. Syringomyelia should be considered among the causes of horizontal gaze palsy plus ipsilateral seventh nerve palsy, termed as eight syndrome. Clinical suspicion and appropriate radiological examination can aid in the diagnosis.

Natural History of Chiari 1 Deformity.

PURPOSE: Chiari type 1 deformity (Ch1) is associated with bony deformity of the skull base and herniation of cerebellar tonsils more than 5 mm below the foramen magnum. Magnetic resonance imaging (MRI) is used for diagnosis and surgery is advised for symptomatic children. We present a case series using MRI including cerebrospinal fluid (CSF) flow, in children with Ch1 to demonstrate a variety of outcomes, both surgical and spontaneous: spontaneous resolution, spontaneous worsening, postsurgical improvement, and postsurgical deterioration. CASE: A 2-week-old female newborn underwent brain MRI demonstrating an ectopic neurohypophysis, under opercularization suggesting brain immaturity and a normal craniocervical junction (CCJ). Follow-up (F/U) MRI at 6 years of age showed interval spontaneous development of Ch1 with decreased CSF spaces at CCJ. CASE: A 6-year-old girl referred for imaging with short stature and growth hormone deficiency demonstrated incidental findings of Ch1 without syringomyelia. There was 15-mm protrusion of pointed cerebellar tonsils through the foramen magnum and a reduced CSF space at the craniocervical junction. No surgery was performed, and F/U MRI at the age of 7 years demonstrated spontaneous resolution of the tonsillar ectopia (cerebellar tonsils now 3 mm right and 6 mm left) and expansion of the CSF spaces at CCJ. CASE: A 7-year-old boy with headaches and staring spells underwent an MRI demonstrating 6-mm protrusion of pointed cerebellar tonsils and CSF space reduction at CCJ. No surgery was performed, and F/U imaging at the age of 9 years demonstrated spontaneous improvement in cerebellar tonsillar position and increased bidirectional CSF flow at CCJ. CASE: A 17-month-old boy underwent brain MRI for unsteady gait and poor vestibular response, which showed Ch1 and narrow CSF spaces at the foramen magnum and with reduced CSF flow. At the age of 3 years, after posterior fossa decompression, F/U MRI showed postsurgical improvement of the position of the cerebellar tonsils and increased CSF space at CCJ. CASE: A 4-month-old male infant with a history of 34-week prematurity, prior germinal matrix hemorrhage, and neonatal subdural hemorrhage was referred for MRI of the cervical and thoracic spine for evaluation of developmental delay and hypotonia with torticollis. Magnetic resonance imaging of the spine demonstrated mild protrusion of inferiorly pointed cerebellar tonsils up to the foramen magnum, with visible CSF and without retroflexion of the dens. Follow-up MRI scans demonstrated progressive worsening of the Chiari 1 deformity, even after multiple surgeries. CONCLUSIONS: It is important to be aware of a variety of different outcomes with Ch1, including spontaneous resolution, spontaneous worsening, improvement with surgery, and even deterioration after surgery. More research is required to determine objective criteria for predicting outcome, which include both anatomic measures and physiologic measures of CSF flow, so that better surgical decisions can be made and for evaluating patients who have undergone surgery.

Morvan's syndrome Presenting with Psychiatric Manifestations - A Case Report and Review of the Literature.

The term "la chorιe fibrillare" was used by the French physician Augustine Marie Morvan to describe a syndrome showing hyperactivity features involving the central, autonomic, and peripheral nervous system. The central hyperactivity symptoms are confusion, behavioral problems, hallucinations, myoclonus, and insomnia; the autonomic hyperactivity symptoms are hyperhidrosis and variations in blood pressure; and peripheral hyperexcitability is characterized by painful cramps, myokymia, and neuromyotonia. Here, we present a case that has typical features of Morvan's syndrome and provides a brief description based on available literature.

Various manifestation of Chiari I malformation in children and improvement after surgery.

INTRODUCTION: Chiari I malformation is defined as caudal displacement of the cerebellar tonsils into the foramen magnum. The most commonly associated finding is cervical syringomyelia. The most common presenting symptom is occipital and upper cervical pain. The incidence of syringomyelia is between 30% and 70%. Surgery is recommended for symptomatic patients. The main purpose of the study is to present the data of children with Chiari type I malformation that were treated surgically in low-volume center and to describe some atypical presentations in children. MATERIALS AND METHODS: At University Medical Centre Maribor, Slovenia, we performed a retrospective study of children with Chiari type I malformation that were treated surgically in the period from 2012 until 2021. The indication for surgery was symptomatic Chiari type I malformation. Suboccipital decompression with laminectomy of at least C1 (in one case also C2) with splitting of dura or duraplasty was performed. In a few cases coagulation of both tonsillar tips was necessary to achieve sufficient decompression and restoration of adequate cerebrospinal fluid (CSF) flow. RESULTS: Ten children (under 18 years of age) underwent surgery for Chiari I malformation. Four patients had atypical presentation. In nine patients there was improvement after surgery. Complication rate was zero with no revision surgery. In one case suboccipital headache persisted. In all cases with preoperative syringomyelia it improved after surgery. Scoliosis improved in two out of three cases. There was no mortality after the procedure. DISCUSSION: When patients with Chiari I malformation become symptomatic, it is recommended to perform surgery as soon as possible. Comparing the techniques; dura-splitting technique has advantages of lesser operation duration, lesser intraoperative bleeding and lower complication rates than duraplasty. CONCLUSIONS: The majority of patients with Chiari I malformation improve after surgery. Surgical procedure is safe with very low morbidity and mortality. Surgical technique must be an individualized patient tailored choice.

Distal renal tubular acidosis presenting with an acute hypokalemic paralysis in an older child with severe vesicoureteral reflux and syringomyelia: a case report.

BACKGROUND: Distal renal tubular acidosis (dRTA) is the most common type of renal tubular acidosis (RTA) in children. Pediatric dRTA is usually genetic and rarely occurs due to acquired issues such as obstructive uropathies, recurrent urinary tract infections (UTIs), and chronic kidney disease (CKD). Although persistent hypokalemia frequently occurs with dRTA, acute hypokalemic paralysis is not frequently reported, especially in older children. CASE PRESENTATION: An eight-year-old girl presented with an acute first episode of paralysis. A physical examination revealed normal vital signs, short stature consistent with her genetic potential, and decreased muscle strength of her upper and lower extremities. Preexisting conditions included stage 4 CKD due to recurrent UTIs, severe vesicoureteral reflux and bilateral hydronephrosis, neurogenic bladder, and multisegment thoracic syringomyelia. Her laboratory work-up revealed hypokalemic, hyperchloremic metabolic acidosis with a normal anion gap. She also had a urine osmolal gap of 1.9 mOsmol/kg with a high urine pH. Intravenous potassium replacement resulted in a complete resolution of her paralysis. She was diagnosed with dRTA and discharged with oral bicarbonate and slow-release potassium supplementation. CONCLUSIONS: This case report highlights the importance of considering dRTA in the differential diagnosis of hypokalemic acute paralysis in children. Additionally, in children with neurogenic lower urinary tract dysfunction and recurrent UTIs, early diagnosis of spinal cord etiology is crucial to treat promptly, slow the progression of CKD, and prevent long-term complications such as RTA.

Magendie's foramen debridement and catheterisation for the treatment of syringomyelia due to diffuse craniocervical junction arachnoiditis. A case report and technical note.

A 36 year old woman was referred to our department for symptomatic lumbar spinal arachnoiditis following an epidural anaesthesia for childbirth. She did not had other known causative factor and she was free of any neurological symptoms before. She rapidly developed lower limbs impairment by compressing intradural lumbar collections and arachnoiditis requiring surgical decompression and subsequently internal cerebrospinal fluid shunting for acute hydrocephalus. Three years and the half later, she developed a severe tetraparesis due to a massive syrinx consecutive to the fourth ventricle outlets obstruction cause by the ongoing diffuse craniocervical junction arachnoiditis. Our aim was to treat all the problems in one step. An open fourth ventriculostomy of the Magendie's foramen with catheter insertion from the fourth ventricle down to the upper cervical subarachnoid space improve both the patient status and imagery.

Postural control in Chiari I malformation: protocol for a paediatric prospective, observational cohort - potential role of posturography for surgical indication.

INTRODUCTION: Chiari I malformation (CM1) is an anatomical abnormality characterised by the cerebellar tonsils descending at least 5 mm below the foramen magnum. CM1 causes obstruction of cerebrospinal fluid (CSF) circulation as well as direct compression on the brainstem, thus causing typical consequences (syringomyelia), and typical clinical features (characteristic headaches and neurological impairment). Surgery is the only available treatment, indicated when symptomatology is present. However, sometimes patients have atypical complaints, which are often suggestive of otolaryngological (ears, nose and throat, ENT) involvement. This may be difficult for a neurosurgeon to explain. Our study aims to investigate the relationship between one of these atypical symptoms, for example, postural instability, in a paediatric population using a Computerised Dynamic Posturography (Equitest, NeuroCom, Clackamas, OR). To our knowledge, there are no previously published studies carried out on children with CM1, using dynamic posturography. METHODS AND ANALYSIS: Forty-five children aged 6-18 years old presenting with radiologically confirmed CM1 and presenting ENT clinical complaints will be included in the study for a duration of 3 years. As primary endpoint, posturographic results will be described in the population study. Second, posturographic results will be compared between patients with and without indication for surgery. Finally, preoperative and postoperative posturographic results, as well as CSF circulation quality at foramen magnum level, syringomyelia, sleep apnoea syndrome, scoliosis and behaviour will be compared in the operated patient group. ETHICS AND DISSEMINATION: This protocol received ethical approval from the Clinical Research Delegation of Nancy University Hospital, in accordance with the National Commission on Informatics and Liberties (Commission Nationale de l'Informatique et des Libertés) (protocol number 2019PI256-107). Our data treatment was in accordance with the Methodology of reference Methodology Reference-004 specification for data policy. The study findings will be disseminated via peer-reviewed publications and conference presentations, especially to the Neurosphynx's rare disease healthcare network. TRIAL REGISTRATION NUMBER: NCT04679792; Pre-results.

The Shoulder Charcot Arthropathy and Secondary to Hemangioblastoma in Conus Medullari with Syringomyelia.

Charcot arthropathy of the shoulder joint is usually referred to as shoulder joint involvement of Charcot arthropathy, which is a chronic, degenerative, destructive condition resulting from decreasing or loss of sensorial innervation. To date, several reports have described the shoulder Charcot arthropathy, caused by malformations of the occipital region with syringomyelia; but nobody has reported the shoulder Charcot arthropathy secondary to hemangioblastoma in conus medullari with syringomyelia. Therefore, we report a 32-year male patient who was diagnosed with Charcot arthropathy of the shoulder joint, which was misdiagnosed as a soft tissue tumor and treated surgically. After the operation, the whole-spine MRI examination was performed as a presenting feature of hemangioblastoma in conus medullari with syringomyelia. Key Words: Arthropathy, Neurogenic, Hemangioblastoma, Syringomyelia.

Diagnosis and treatment of Chiari malformation and syringomyelia in adults: international consensus document.

BACKGROUND: Syringomyelia and Chiari malformation are classified as rare diseases on Orphanet, but international guidelines on diagnostic criteria and case definition are missing. AIM OF THE STUDY: to reach a consensus among international experts on controversial issues in diagnosis and treatment of Chiari 1 malformation and syringomyelia in adults. METHODS: A multidisciplinary panel of the Chiari and Syringomyelia Consortium (4 neurosurgeons, 2 neurologists, 1 neuroradiologist, 1 pediatric neurologist) appointed an international Jury of experts to elaborate a consensus document. After an evidence-based review and further discussions, 63 draft statements grouped in 4 domains (definition and classification/planning/surgery/isolated syringomyelia) were formulated. A Jury of 32 experts in the field of diagnosis and treatment of Chiari and syringomyelia and patient representatives were invited to take part in a three-round Delphi process. The Jury received a structured questionnaire containing the 63 statements, each to be voted on a 4-point Likert-type scale and commented. Statements with agreement <75% were revised and entered round 2. Round 3 was face-to-face, during the Chiari Consensus Conference (Milan, November 2019). RESULTS: Thirty-one out of 32 Jury members (6 neurologists, 4 neuroradiologists, 19 neurosurgeons, and 2 patient association representatives) participated in the consensus. After round 2, a consensus was reached on 57/63 statements (90.5%). The six difficult statements were revised and voted in round 3, and the whole set of statements was further discussed and approved. CONCLUSIONS: The consensus document consists of 63 statements which benefited from expert discussion and fine-tuning, serving clinicians and researchers following adults with Chiari and syringomyelia.

Currarino syndrome - a pre and post natal diagnosis correlation: case report and literature review.

Currarino syndrome is an uncommon genetic disease, with autosomal dominant inheritance, that is characterized by sacrococcygeal bone defect, presacral mass and anorectal malformation. There are many cases only diagnosed in adulthood, but early diagnosis is important to avoid life-threatening complications and to reduce morbidity, but it requires a high suspicion index and a multidisciplinary approach. If it is an unknown disease in the family, prenatal diagnosis is rare but possible. We discuss a case report of Currarino syndrome with an early diagnosis through fetal magnetic resonance imaging, studied during pregnancy for prenatal diagnosis purposes which showed similar defects in fetus spine and in the asymptomatic mother. We emphasize the inclusion of this rare syndrome in the differential diagnosis of fetal neural tube defects and caudal regression syndrome. The recognition of at-risk subjects should lead to better planning of pregnancies and appropriate management of affected children at birth.

An increase in the posterior subarachnoid space accelerates the timing of syrinx resolution after foramen magnum decompression of type I Chiari malformation.

Syrinx resolution has been associated with an increase in the size of the posterior subarachnoid space (pSAS) after foramen magnum decompression (FMD) for type I Chiari malformation (CM1). The present study investigated the influence of pSAS increase on syrinx resolution and symptom improvement after FMD. 32 patients with CM1 with syrinx were analyzed retrospectively. FMD was performed for the 24 patients with CM1 with syrinx. pSAS areas were measured on sagittal magnetic resonance images. Neurological symptoms were grouped into three clinical categories and scored. The rates of symptom improvement in the CM1 patients with syrinx after FMD was 19.7% ± 12.9%. The mean times to the improvement of neurological symptoms in CM1 patients with syrinx after FMD was 23.4 ± 50.2 months. There were no significant differences between the patients with and without improvement of syrinx after FMD with regard to the age, length of tonsillar herniation, BMI, and preoperative pSAS areas. The rate of increase in the pSAS areas was significantly higher in the group with syrinx improvement within 1 year (p < 0.0001). All patients with a > 50% rate of increase in the pSAS area showed syrinx improvement. Our results suggested that the increasing postoperative pSAS area accelerated the timing of syrinx resolution.

Specific microstructural changes of the cervical spinal cord in syringomyelia estimated by diffusion tensor imaging.

The microstructure of the spinal cord in syringomyelia has not been well studied. The aim of this study was to evaluate the microstructure of the cervical cord in patients with syringomyelia using diffusion tensor imaging (DTI) and to investigate the association between DTI parameters and the size of the syrinx cavity. Thirty patients with syringomyelia and 11 age-matched controls were included in this study. DTI and T1/T2-weighted MRI were used to estimate spinal microstructure. The patients were divided into a clinical symptom group (group A) and a non-clinical symptom group (group B) according to ASIA assessments. The fractional anisotropy (FA) and apparent diffusion coefficient (ADC) values (mm2/s) were measured and compared between patients and controls. Correlation between FA/ADC and the size of the syrinx cavity was examined with a bivariate analysis. FA values were lower (P < 0.000) and ADC values were higher (P < 0.000) compared to the controls at the level of all syrinxes examined in patients with syringomyelia; both FA values and ADC values reached normal values either above or below the syrinx levels (all P > 0.05). FA values and ADC values at all cervical levels were not significantly different either in controls or outside of the syrinx (all P > 0.05). FA values of group A was significantly lower than those of group B (P < 0.000). There was a negative association between FA values and the size of syrinx cavity, and a positive association between ADC values and the size of syrinx cavity (FA: P < 0.05, ADC: P < 0.05). The microstructure of the cervical spinal cord is different across all patients with syringomyelia. DTI is a promising tool for estimating quantitative pathological characteristics that are not visible with general MRI.

Clinical Image of a Spinal Ependymoma Discovered 8 Years after Initial Misdiagnosis as an Idiopathic Syringomyelia.

With the increasing frequency of neuroimaging, incidental intramedullary cavities are diagnosed more frequently. We present a case of asymptomatic incidental intramedullary cervical cavity diagnosed as an idiopathic syringomyelia as initial magnetic resonance imaging (MRI) showed an isolated cystic image without contrasted component. The patient had no subsequent MRI follow-up, but eventually showed symptoms 8 years later. By this stage of the disease, the MRI appearance had changed, showing a solid and enhanced component. The patient underwent surgical resection and histopathology concluded a papillary ependymoma (grade 2). This case illustrates how asymptomatic intramedullary cavities may hide an underlying tumoral process and why these cavities should not be considered as idiopathic syringomyelia by default, except after prolonged MRI follow-up.

Morvan Syndrome and Diffuse Large B-Cell Lymphoma in the Central Nervous System.

INTRODUCTION: The origin of contactin-associated protein-like 2 (Caspr2) antibodies in patients with Morvan syndrome is currently unknown. This case report investigated a possible association between the production of Caspr2 antibodies and aberrant proliferation of B lymphocytes. CASE REPORT: We admitted a critically ill 65-year-old female patient with a suspected infection of the central nervous system (CNS). In addition to acquired neuromyotonia and CNS involvement, Caspr2 antibodies detected in her serum led to the presumptive diagnosis of Morvan syndrome. However, steroid and immunoglobulin treatment did not result in a satisfactory therapeutic outcome. On the basis of findings from immunohistochemistry, flow cytometric analysis, and immunoglobulin/T-cell receptor gene rearrangement detection of cerebrospinal fluid cells, we also made a concurrent diagnosis of diffuse large B-cell lymphoma in the CNS of this patient. The patient then received 4 cycles of rituximab and methylprednisolone therapy with an interval of 2 weeks, which temporarily led to a near-complete remission of her symptoms. Upon follow-up, her symptoms relapsed at 3 months after the last treatment with rituximab and methylprednisolone. CONCLUSIONS: This is a first reported case of a patient who was concurrently diagnosed with Morvan syndrome and diffuse large B-cell lymphoma in the CNS. Additional studies are needed to determine whether aberrantly proliferating B lymphocytes are responsible for the production of Caspr2 antibodies.

Meningioma sincitial intramedular asociado a siringomielia cervical / Syncytial intramedullary meningioma associated with cervical syringomyelia

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