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BMC Neurology Feb 2023Gorham-Stout disease (GSD) is a very rare disorder characterized by massive osteolysis of poorly understood aetiology. The association between GSD involving the skull... (Review)
Review
BACKGROUND
Gorham-Stout disease (GSD) is a very rare disorder characterized by massive osteolysis of poorly understood aetiology. The association between GSD involving the skull base and cerebrospinal fluid (CSF) leakage has been reported in the literature. However, few cases of CSF leakage and Chiari-like tonsillar herniation in GSD involving the spine have been reported.
CASE PRESENTATION
We present the case of a 20-year-old man with GSD involving the thoracic and lumbar spine, which caused CSF leakage and Chiari-like tonsillar herniation. The patient underwent four spinal surgeries for osteolytic lesions of the spine over a 10-year period. Here, we discuss the possible aetiology of the development of CSF leakage. Epidural blood patch (EBP) was performed at the T11-T12 level to repair the CSF leakage. After EBP treatment, rebound intracranial hypertension (RIH) developed, and tonsillar herniation disappeared 2 months later.
CONCLUSIONS
GSD involving the spine with CSF leakage and Chiari-like tonsillar herniation is relatively rare. For patients who have undergone multiple spinal surgeries, minimally invasive treatment is an alternative treatment for CSF leakage. EBP can repair CSF leakage secondary to GSD and improve chronic brain sagging, with reversibility of Chiari-like malformations.
Topics: Male; Humans; Young Adult; Adult; Osteolysis, Essential; Encephalocele; Cerebrospinal Fluid Leak; Brain; Arnold-Chiari Malformation
PubMed: 36737721
DOI: 10.1186/s12883-023-03092-y -
Pediatric Neurosurgery 2023The association between multisutural craniosynostosis with Chiari malformation (CM), venous hypertension, and hydrocephalus is widely described in the literature,...
INTRODUCTION
The association between multisutural craniosynostosis with Chiari malformation (CM), venous hypertension, and hydrocephalus is widely described in the literature, especially in children with paediatric craniofacial syndromes. Some efforts have been done in the last years to understand the complex pathogenetic mechanisms underlying this association, and several theories have been proposed. In particular, it is now accepted that the hypothesis of the overcrowding of the posterior fossa due to precocious suture fusion is the cause of the cerebellar herniation in syndromic and non-syndromic patients, against the theory of intrinsic cerebellar anomalies, ventriculomegaly, and venous hypertension. However, whatever the pathophysiological mechanism, it is still unclear what the best management and treatment of CM and hydrocephalus are in multisutural craniosynostosis patients. The aim of this study was to report our 25 years' experience in treating paediatric patients affected by these rare pathologies in order to propose a simple and effective therapeutic flow chart for their management.
MATERIALS AND METHODS
We retrospectively collected data of each patient who underwent a cranial vault remodelling (CVR) for complex multisutural craniosynostosis in our institution in the last 25 years, while monosutural craniosynostosis was excluded. We recorded data concerning type of craniosynostosis and craniofacial syndromes, presence of ventriculomegaly, and CM at presentation and clinical and radiological follow-up. Therefore, we evaluated the final outcomes (improved, stable, deteriorated) of these patients and created a practical flow chart that could help physicians choose the best surgical treatment when different pathological conditions, as Chiari malformation I (CMI) or hydrocephalus, affect complex craniosynostosis children.
RESULTS
Thirty-nine patients (39 out of 55; 70.9%), with an isolated multisutural craniosynostosis at presentation, underwent a two-step CVR as first surgery; 36 patients (92.3%) had an improved outcome, 2 patients (5.1%) had a stable outcome, and 1 patient (2.56%) had a deteriorated outcome. Other eight children (8 out of 55; 14.5%) had a radiological evidence of asymptomatic CMI at presentation. In this group, we performed CVR as first surgery. As for the final outcome, 7 patients had an improved outcome (87.5%) with good aesthetic result and stability or resolution of CMI. Finally, 7 patients (7 out of 55; 12.7%) presented a various combination of CMI and ventriculomegaly or hydrocephalus at presentation. Among them, 3 patients had an improved outcome (42.8%), and 4 patients had a deteriorated outcome (57.1%).
DISCUSSION
The prevalence of one pathological condition with associated symptoms over the others was the key factor leading our therapeutic strategy. When craniosynostosis is associated with a radiological CM, the assessment of clinical symptoms is of capital importance. When asymptomatic or pauci-symptomatic, we suggest a CVR as first step, for its efficacy in reducing tonsillar herniation and solving CM symptoms. When craniosynostosis is associated with ventricular enlargement, the presence of intracranial hypertension signs and symptoms forces physicians to first treat hydrocephalus with a ventriculo-peritoneal shunt or endoscopic third ventriculostomy. For patients with various degrees and severity of ventriculomegaly and associated CM, the outcomes were very heterogeneous, even when the same therapeutic strategy was applied to patients with similar starting conditions and symptoms. This is maybe the most unexpected and least clear part of our results. Despite the proposed algorithm comes from a clinical experience on 85% successfully treated patients with multiple craniosynostosis, more extensive and deep studies are needed to better understand CM and hydrocephalus development in such conditions.
Topics: Humans; Child; Syndrome; Retrospective Studies; Arnold-Chiari Malformation; Hydrocephalus; Craniosynostoses; Encephalocele; Hypertension; Magnetic Resonance Imaging
PubMed: 36720214
DOI: 10.1159/000529129 -
Acta Neurologica Belgica Dec 2023
Topics: Adolescent; Humans; Alkaline Phosphatase; Arnold-Chiari Malformation; Neural Tube Defects; Scoliosis; Syringomyelia
PubMed: 36708496
DOI: 10.1007/s13760-023-02197-y -
Child's Nervous System : ChNS :... Jun 2023Hydrocephalus is commonly associated with Chiari malformation (CM) particularly CM type II. The traditional treatment of hydrocephalus in these patients has been...
BACKGROUND
Hydrocephalus is commonly associated with Chiari malformation (CM) particularly CM type II. The traditional treatment of hydrocephalus in these patients has been cerebrospinal fluid diversion by shunts. Endoscopic third ventriculostomy (ETV) has emerged as an alternative procedure in these patients.
PURPOSE
Assessment of the clinical and radiological outcomes of ETV in the management of hydrocephalus in children with CM II.
METHODS
This is a prospective study conducted on 18 patients with CM II associated with hydrocephalus admitted to Cairo University hospitals between January 2020 and June 2021. These patients had been managed surgically by ETV. Clinical outcome was assessed based on improvement of manifestations of increased intracranial pressure while radiological outcome was based on the findings of postoperative computed tomography. In cases with early failure, serial lumbar puncture (LP) was performed for 2 days.
RESULTS
ETV was performed as a secondary procedure in 4 cases. The overall success rate of the procedure was 72%, and its success rate as a secondary procedure was 100%. Serial LP was effective in decreasing early failure in 44.4% of cases. Radiological regression of hydrocephalic changes was detected in 50% of the cases.
CONCLUSION
ETV is an efficient and safe procedure in the treatment of hydrocephalus in children with Chiari malformation II, particularly when performed as a secondary procedure. Serial LP following the procedure increases the success rate in patients with early failure.
Topics: Humans; Child; Arnold-Chiari Malformation; Ventriculostomy; Prospective Studies; Third Ventricle; Treatment Outcome; Neuroendoscopy; Hydrocephalus; Retrospective Studies
PubMed: 36700950
DOI: 10.1007/s00381-023-05832-4 -
Neurosurgery Apr 2023Our previous study suggested that atlanto-occipital instability (AOI) is common in patients with type II basilar invagination (II-BI).
BACKGROUND
Our previous study suggested that atlanto-occipital instability (AOI) is common in patients with type II basilar invagination (II-BI).
OBJECTIVE
To further understand the pathogenesis of AOI in Chiari malformations (CM) and CM + II-BI through systematic measurements of the bone structure surrounding the craniocervical junction.
METHODS
Computed tomography data from 185 adults (80 controls, 63 CM, and 42 CM + II-BI) were collected, and geometric models were established for parameter measurement. Canonical correlation analysis was used to evaluate the morphological and positional relationships of the atlanto-occipital joint (AOJ).
RESULTS
Among the 3 groups, the length and height of the condyle and superior portion of the lateral masses of the atlas (C1-LM) were smallest in CM + II-BI cases; the AOJ had the shallowest depth and the lowest curvature in the same group. AOJs were divided into 3 morphological types: type I, the typical ball-and-socket joint, mainly in the control group (100%); type II, the shallower joint, mainly in the CM group (92.9%); and type III, the abnormal flat-tilt joint, mainly in the CM + II-BI group (89.3%). Kinematic computed tomography revealed AOI in all III-AOJs (100%) and some II-AOJs (1.5%) but not in type I-AOJs (0%). Morphological parameters of the superior portion of C1-LM positively correlated with those of C0 and the clivus and significantly correlated with AOI.
CONCLUSION
Dysplasia of the condyle and superior portion of C1-LM exists in both CM and II-BI cases yet is more obvious in type II-BI. Unstable movement caused by AOJ deformation is another pathogenic factor in patients with CM + II-BI.
Topics: Adult; Humans; Atlanto-Axial Joint; Arnold-Chiari Malformation; Joint Instability; Tomography, X-Ray Computed; Cranial Fossa, Posterior; Atlanto-Occipital Joint
PubMed: 36700733
DOI: 10.1227/neu.0000000000002284 -
Cephalalgia : An International Journal... Jan 2023A meta-analysis was conducted to analyze the incidence of typical and atypical headaches and outcomes following various treatments in patients with Chiari I malformation. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
A meta-analysis was conducted to analyze the incidence of typical and atypical headaches and outcomes following various treatments in patients with Chiari I malformation.
BACKGROUND
Headache is the most common symptom of Chiari malformation, which can be divided into typical and atypical subgroups to facilitate management. Much controversy surrounds the etiology, prevalence and optimal therapeutic approach for both types of headaches.
METHOD
We identified relevant studies published before 30 July 2022, with an electronic search of numerous literature databases. The results of this study were reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement.
RESULT
A total of 1913 Chiari malformation type I CIM patients were identified, 78% of whom presented with headache, within this group cephalgia was typical in 48% and atypical in 29% of patients, and migraine was the most common type of atypical headache. The ratio of typical/atypical headaches with international classification of headache disorders diagnosis was 1.53, and without international classification of headache disorders diagnosis was 1.56, respectively. The pooled improvement rates of typical headaches following conservative treatment, extradural decompression and intradural decompression were 69%, 88%, and 92%, respectively. The corresponding improvement rates for atypical headaches were 70%, 57.47%, and 69%, respectively. The complication rate in extradural decompression group was significantly lower than in intradural decompression group (RR, 0.31; 95% CI: 0.06-1.59, I = 50%, = 0.14). Low reoperation rates were observed for refractory headaches in extradural decompression and intradural decompression groups (1%).
CONCLUSION
The International Classification of Headache Disorders can assist in screening atypical headaches. extradural decompression is preferred for typical headaches, while conservative therapy is optimal for atypical headaches. A definite correlation exists between atypical headaches and Chiari Malformation Type I patients with higher prevalence than in the general population. Importantly, decompression is effective in relieving headaches in this particular patient population.
Topics: Humans; Arnold-Chiari Malformation; Treatment Outcome; Prevalence; Decompression, Surgical; Headache; Headache Disorders; Retrospective Studies
PubMed: 36694433
DOI: 10.1177/03331024221131356 -
PloS One 2023Albright hereditary osteodystrophy (AHO) is caused by heterozygous inactivating mutations in GNAS. Patients with maternally-inherited mutations develop...
BACKGROUND
Albright hereditary osteodystrophy (AHO) is caused by heterozygous inactivating mutations in GNAS. Patients with maternally-inherited mutations develop pseudohypoparathyroidism type 1A (PHP1A) with multi-hormone resistance and aberrant craniofacial and skeletal development among other abnormalities. Chiari malformation type 1 (CM1), a condition in which brain tissue extends into the spinal canal when the skull is too small, has been reported in isolated cases of PHP1A. It has been hypothesized to be associated with growth hormone (GH) deficiency. Given the adverse clinical sequelae that can occur if CM1 goes unrecognized, we investigated the previously undetermined prevalence of CM1, as well as any potential correlations with GH status, given the known increased prevalence of GH deficiency in PHP1A. We also investigated these metrics for low lying cerebellar tonsils (LLCT), defined as tonsillar descent less than 5 mm below the foramen magnum. In addition, we investigated possible correlations of CM1/LLCT with advanced hand/wrist bone ages and craniofacial abnormalities known to occur in PHP1A to determine whether premature chondrocyte differentiation and/or aberrant craniofacial development could be potential etiologies of CM1/LLCT through both human studies and investigations of our AHO mouse model.
METHODS
We examined patients with PHP1A in our clinic and noticed CM1 more frequently than expected. Therefore, we set out to determine the true prevalence of CM1 and LLCT in a cohort of 54 mutation-confirmed PHP1A participants who had clinically-indicated brain imaging. We examined potential correlations with GH status, clinical features, biological sex, genotype, and hand/wrist bone age determinations. In addition, we investigated the craniofacial development in our mouse model of AHO (Gnas E1+/-m) by histologic analyses, dynamic histomorphometry, and micro-computerized tomographic imaging (MCT) in order to determine potential etiologies of CM1/LLCT in PHP1A.
RESULTS
In our cohort of PHP1A, the prevalence of CM1 is 10.8%, which is at least 10-fold higher than in the general population. If LLCT is included, the prevalence increases to 21.7%. We found no correlation with GH status, biological sex, genotype, or hand/wrist bone age. Through investigations of our Gnas E1+/-m mice, the correlate to PHP1A, we identified a smaller cranial vault and increased cranial dome angle with evidence of hyperostosis due to increased osteogenesis. We also demonstrated that there was premature closure of the spheno-occipital synchondrosis (SOS), a cartilaginous structure essential to the development of the cranial base. These findings lead to craniofacial abnormalities and could contribute to CM1 and LLCT development in PHP1A.
CONCLUSION
The prevalence of CM1 is at least 10-fold higher in PHP1A compared to the general population and 20-fold higher when including LLCT. This is independent of the GH deficiency that is found in approximately two-thirds of patients with PHP1A. In light of potential serious consequences of CM1, clinicians should have a low threshold for brain imaging. Investigations of our AHO mouse model revealed aberrant cranial formation including a smaller cranium, increased cranial dome angle, hyperostosis, and premature SOS closure rates, providing a potential etiology for the increased prevalence of CM1 and LLCT in PHP1A.
Topics: Humans; Animals; Mice; Prevalence; Pseudohypoparathyroidism; GTP-Binding Protein alpha Subunits, Gs; Bone Development; Genotype; Arnold-Chiari Malformation; Chromogranins
PubMed: 36662765
DOI: 10.1371/journal.pone.0280463 -
Cureus Dec 2022Background Chiropractors often use manual thrust cervical spinal manipulative therapy (thrust-cSMT) to treat musculoskeletal neck conditions. We hypothesized <50% of...
Background Chiropractors often use manual thrust cervical spinal manipulative therapy (thrust-cSMT) to treat musculoskeletal neck conditions. We hypothesized <50% of surveyed Asia-Pacific chiropractors would report using thrust-cSMT given potential contraindications, and secondarily explored predictors of thrust-cSMT use. Materials and methods We designed, validated, achieved sufficient reliability, and disseminated a survey to explore thrust-cSMT use. The survey queried chiropractors' characteristics (e.g., years in practice, education level, time with patients, importance of subluxation), and use of thrust-cSMT for uncomplicated neck pain and vignettes describing vertebral artery disorders, Arnold-Chiari malformation, and anterior cervical discectomy and fusion (ACDF). We performed logistic regression for each vignette with thrust-cSMT as the dependent variable and chiropractor characteristics as covariates. Results There were 241 respondents, having 12.8±10.9 years in practice, representing >15 countries. Less than 50% of chiropractors reported the use of thrust-cSMT for each vignette, including vertebral artery insufficiency (14%) and stenosis (17%), Arnold-Chiari type I (18%) and type II (5%), C5/6 ACDF (39%) and C3-6 ACDF (27%). Regressions identified significant predictors of increased or decreased use of thrust-cSMT including time spent with new patients, focus on subluxation, degree, group practice environment, use of thrust-cSMT on a healthy patient, and hours reading scientific literature (P<.05 for each). Conclusions This study was the first to chiropractors' use of thrust-cSMT for complicated neck pain and found that most Asia-Pacific chiropractors reported avoiding this treatment in the presence of a potential treatment contraindication. The use of thrust-cSMT in complicated neck pain may be related to practice characteristics. However, further research is needed to identify specific reasons why chiropractors use or avoid thrust-cSMT.
PubMed: 36644078
DOI: 10.7759/cureus.32441 -
Cureus Nov 2022A variety of factors could contribute to facial oedema during a prone neurosurgical procedure. For optimal surgical exposure, suboccipital cranial surgeries frequently...
A variety of factors could contribute to facial oedema during a prone neurosurgical procedure. For optimal surgical exposure, suboccipital cranial surgeries frequently necessitate extreme neck flexion. Extreme neck flexion in the prone position can impair venous drainage of the facial and oropharyngeal structures, leading to life-threatening oedema, so a two-fingerbreadth space between the chin and the sternum is critical. We present a case of massive facial oedema with submandibular swelling in a patient who underwent foramen magnum decompression in the prone position for Arnold Chiari malformation.
PubMed: 36569736
DOI: 10.7759/cureus.31759 -
Medicine Dec 2022The current surgical management of adult Chiari malformation type I (CM-I) with associated syringomyelia remains controversial. The objective of this study was to... (Randomized Controlled Trial)
Randomized Controlled Trial
BACKGROUND
The current surgical management of adult Chiari malformation type I (CM-I) with associated syringomyelia remains controversial. The objective of this study was to explore posterior fossa decompression and duraplasty (PFDD) with and without tonsillar resection in adult patients with CM-I and syringomyelia.
METHODS
A total of 116 adult patients suffering from both CM-I and syringomyelia who were scheduled to undergo surgical decompression at our institution between 2012 and 2020 were randomly divided into 2 groups: the PFDD group (n = 64) underwent PFDD without tonsillar resection, while the PFDD-T group (n = 52) underwent PFDD with tonsillar resection. The primary outcome was improvement or resolution of the syrinx. The secondary outcome was an improvement in clinical outcome based on Chicago Chiari Outcome Scale (CCOS) scores. All participants were followed-up to 1-year postoperatively.
RESULTS
The proportions of patients who had >20% improvement in syrinx size were 60.9% and 78.8% in the PFDD and PFDD-T groups, respectively (P = .038). The improvement in clinical outcome based on CCOS scores was significantly different in the 2 groups (P = .004). The functionality sub-score was significantly different between the 2 groups (P = .027), but there were no significant differences in the pain symptoms, non-pain symptoms, and complications sub-scores. The total CCOS scores were higher in the PFDD-T group than in the PFDD group (P = .037).
CONCLUSION
This study determined the role of tonsillar resection in achieving obvious syrinx improvement following PFDD-T. PFDD with tonsillar resection seems to be a safe and effective surgical option to treat adult CM-I patients with syringomyelia.
Topics: Humans; Adult; Arnold-Chiari Malformation; Syringomyelia; Dura Mater; Decompression, Surgical; Treatment Outcome; Retrospective Studies
PubMed: 36550873
DOI: 10.1097/MD.0000000000031394