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World Neurosurgery: X Oct 2023Chiari malformation type 1 (CM-1) is characterized by cerebellar tonsil herniation through the foramen magnum and can be associated with additional craniovertebral...
BACKGROUND
Chiari malformation type 1 (CM-1) is characterized by cerebellar tonsil herniation through the foramen magnum and can be associated with additional craniovertebral junction anomalies (CVJA). The pathophysiology and treatment for CM-1 with CVJA (CM-CVJA) is debated.
OBJECTIVE
To evaluate the trends and outcomes of surgical interventions for patients with CM-CVJA.
METHODS
A systematic review of the literature was performed to obtain articles describing surgical interventions for patients with CM-CVJA. Articles included were case series describing surgical approach; reviews were excluded. Variables evaluated included patient characteristics, approach, and postoperative outcomes.
RESULTS
The initial query yielded 403 articles. Twelve articles, published between 1998-2020, met inclusion criteria. From these included articles, 449 patients underwent surgical interventions for CM-CVJA. The most common CVJAs included basilar invagination (BI) (338, 75.3%), atlantoaxial dislocation (68, 15.1%) odontoid process retroflexion (43, 9.6%), and medullary kink (36, 8.0%). Operations described included posterior fossa decompression (PFD), transoral (TO) decompression, and posterior arthrodesis with either occipitocervical fusion (OCF) or atlantoaxial fusion. Early studies described good results using combined ventral and posterior decompression. More recent articles described positive outcomes with PFD or posterior arthrodesis in combination or alone. Treatment failure was described in patients with PFD alone that later required posterior arthrodesis. Additionally, reports of treatment success with posterior arthrodesis without PFD was seen.
CONCLUSION
Patients with CM-CVJA appear to benefit from posterior arthrodesis with or without decompressive procedures. Further definition of the pathophysiology of craniocervical anomalies is warranted to identify patient selection criteria and ideal level of fixation.
PubMed: 37456684
DOI: 10.1016/j.wnsx.2023.100221 -
Archives of Plastic Surgery Jul 2014An abnormally obtuse cranial base angle, also known as platybasia, is a common finding in patients with 22q11.2 deletion syndrome (22q11DS). Platybasia increases the...
BACKGROUND
An abnormally obtuse cranial base angle, also known as platybasia, is a common finding in patients with 22q11.2 deletion syndrome (22q11DS). Platybasia increases the depth of the velopharynx and is therefore postulated to contribute to velopharyngeal dysfunction. Our objective was to determine the clinical significance of platybasia in 22q11DS by exploring the relationship between cranial base angles and speech resonance.
METHODS
In this retrospective chart review at a tertiary hospital, 24 children (age, 4.0-13.1 years) with 22q11.2DS underwent speech assessments and lateral cephalograms, which allowed for the measurement of the cranial base angles.
RESULTS
One patient (4%) had hyponasal resonance, 8 (33%) had normal resonance, 10 (42%) had hypernasal resonance on vowels only, and 5 (21%) had hypernasal resonance on both vowels and consonants. The mean cranial base angle was 136.5° (standard deviation, 5.3°; range, 122.3-144.8°). The Kruskal-Wallis test showed no significant relationship between the resonance ratings and cranial base angles (P=0.242). Cranial base angles and speech ratings were not correlated (Spearman correlation=0.321, P=0.126). The group with hypernasal resonance had a significantly more obtuse mean cranial base angle (138° vs. 134°, P=0.049) but did not have a greater prevalence of platybasia (73% vs. 56%, P=0.412).
CONCLUSIONS
In this retrospective chart review of patients with 22q11DS, cranial base angles were not correlated with speech resonance. The clinical significance of platybasia remains unknown.
PubMed: 25075355
DOI: 10.5999/aps.2014.41.4.344 -
Journal of Clinical Orthopaedics and... Feb 2021A Prospective Study.
STUDY DESIGN
A Prospective Study.
OBJECTIVE
To assess results of posterior occipito-cervical decompression and fusion operated with intra-operative traction/manipulation and instrumented reduction in cases of Basilar Invagination(BI).
METHODS
Total 22 patients of 8-65 years with diagnosed BI were operated for posterior occipito-cervical fusion by intra-operative traction/manipulation and instrumented reduction. Fusion was done using autologous bone graft taken from iliac crest. Immediate post-operative, first month and then every 3 months' follow-up examination were done for minimum period of 2 years.
RESULTS
22 patients (10 males,12 females) with mean age of 23.9 years having BI were included. 11 patients had C1 occipitalization, 4 had platybasia and 9 had atlanto-axial dislocation (AAD). 1 patient with os odontoideum with kyphotic deformity expired on 4th postoperative day due to respiratory insufficiency (mortality rate 4.54%). Neurological improvement by at least by one grade according to RANAWAT's and/or NURICK'S scale was observed in 17/21 patients (80.95%). 3 patients remained static and 1 had neuro-worsening. Mean mJOA score of 13.14 improved to 16.24. All had reduction of dens below foramen magnum according to McRae, chamberlain line and Ranawat index. Bone graft fused in all patients as confirmed with CT scan and dynamic X-rays. 1 wound dehiscence and 1 asymptomatic implant loosening were seen on follow-up.
CONCLUSION
Surgical treatment of BI with intra-operative traction/manipulation, instrumented reduction and posterior occipito-cervical fusion can achieve good correction of radiology, functional performance and clinical neurology as well as excellent fusion rates without adverse effects of trans-oral surgery.
PubMed: 33680811
DOI: 10.1016/j.jcot.2020.11.016 -
Journal of Spine Surgery (Hong Kong) Dec 2018Down syndrome (DS) occurs when an individual has a full or partial extra copy of chromosome 21 and is the most common of all malformation syndromes. Associating with...
Down syndrome (DS) occurs when an individual has a full or partial extra copy of chromosome 21 and is the most common of all malformation syndromes. Associating with numerous pathologies like anterior atlantoaxial subluxation (AAAS) which is an increase in the space between the anterior arch of the first cervical vertebra (C1) and the odontoid process of the second vertebra (C2), most of the time its asymptomatic, only 1-2% to all the 30% who may have the AAAS and DS develop clinical symptoms. In this occasion, we present the case of a patient with SD and Juvenile chronic arthritis (JCA) who has atlantoaxial subluxation of approximately 11mm, basilar impression and platybasia with severe medullary compression in 2 points, requiring surgical management by the Neurological Surgery Service in Bucaramanga-Colombia.
PubMed: 30714014
DOI: 10.21037/jss.2018.12.07 -
European Journal of Medical Genetics Aug 2020Primrose syndrome (OMIM 259050) is a rare disorder characterised by macrocephaly with developmental delay, a recognisable facial phenotype, altered glucose metabolism,...
Primrose syndrome (OMIM 259050) is a rare disorder characterised by macrocephaly with developmental delay, a recognisable facial phenotype, altered glucose metabolism, and other features such as sensorineural hearing loss, short stature, and calcification of the ear cartilage. It is caused by heterozygous variants in ZBTB20, a member of the POK family of transcription repressors. Recently, this gene was shown to have a role in skeletal development through its action on chondrocyte differentiation by repression of SOX9. We describe five unrelated patients with Primrose syndrome and distinct skeletal features including multiple Wormian bones, platybasia, bitemporal bossing, bathrocephaly, slender bones, epiphyseal and spondylar dysplasia. The radiological abnormalities of the skull and the epiphyseal dysplasia were the most consistent findings. This novel constellation of skeletal features expands the phenotypic spectrum of the disorder.
Topics: Abnormalities, Multiple; Adolescent; Bone and Bones; Calcinosis; Child; Child, Preschool; Ear Diseases; Female; Humans; Intellectual Disability; Male; Muscular Atrophy; Nerve Tissue Proteins; Phenotype; SOXB1 Transcription Factors; Transcription Factors; Young Adult
PubMed: 32473227
DOI: 10.1016/j.ejmg.2020.103967 -
Neurosurgery Jan 2021Occipital-cervical fusion (OCF) and ventral decompression (VD) may be used in the treatment of pediatric Chiari-1 malformation (CM-1) with syringomyelia (SM) as adjuncts...
Occipital-Cervical Fusion and Ventral Decompression in the Surgical Management of Chiari-1 Malformation and Syringomyelia: Analysis of Data From the Park-Reeves Syringomyelia Research Consortium.
BACKGROUND
Occipital-cervical fusion (OCF) and ventral decompression (VD) may be used in the treatment of pediatric Chiari-1 malformation (CM-1) with syringomyelia (SM) as adjuncts to posterior fossa decompression (PFD) for complex craniovertebral junction pathology.
OBJECTIVE
To examine factors influencing the use of OCF and OCF/VD in a multicenter cohort of pediatric CM-1 and SM subjects treated with PFD.
METHODS
The Park-Reeves Syringomyelia Research Consortium registry was used to examine 637 subjects with cerebellar tonsillar ectopia ≥ 5 mm, syrinx diameter ≥ 3 mm, and at least 1 yr of follow-up after their index PFD. Comparisons were made between subjects who received PFD alone and those with PFD + OCF or PFD + OCF/VD.
RESULTS
All 637 patients underwent PFD, 505 (79.2%) with and 132 (20.8%) without duraplasty. A total of 12 subjects went on to have OCF at some point in their management (PFD + OCF), whereas 4 had OCF and VD (PFD + OCF/VD). Of those with complete data, a history of platybasia (3/10, P = .011), Klippel-Feil (2/10, P = .015), and basilar invagination (3/12, P < .001) were increased within the OCF group, whereas only basilar invagination (1/4, P < .001) was increased in the OCF/VD group. Clivo-axial angle (CXA) was significantly lower for both OCF (128.8 ± 15.3°, P = .008) and OCF/VD (115.0 ± 11.6°, P = .025) groups when compared to PFD-only group (145.3 ± 12.7°). pB-C2 did not differ among groups.
CONCLUSION
Although PFD alone is adequate for treating the vast majority of CM-1/SM patients, OCF or OCF/VD may be occasionally utilized. Cranial base and spine pathologies and CXA may provide insight into the need for OCF and/or OCF/VD.
Topics: Arnold-Chiari Malformation; Child; Cohort Studies; Decompression, Surgical; Female; Humans; Male; Spinal Fusion; Syringomyelia; Treatment Outcome
PubMed: 33313928
DOI: 10.1093/neuros/nyaa460 -
Zhurnal Voprosy Neirokhirurgii Imeni N.... 2015Pathological processes in the craniovertebral region (clivus, C1 anterior arch, odontoid process and body of the C2 vertebra, i.e. C0-C1-C2 segments) are very difficult...
UNLABELLED
Pathological processes in the craniovertebral region (clivus, C1 anterior arch, odontoid process and body of the C2 vertebra, i.e. C0-C1-C2 segments) are very difficult to diagnose and treat. The craniovertebral junction instability may develop in the case of a significant lesion of C1-C2 segments. Among diseases causing destruction of the clivus structures and C1-C2 vertebrae and compression of the spinal cord, the following ones are most common: chordoma, giant cell tumor, osteoblastoma, rheumatoid lesion, metastases, platybasia, and basilar impression. These diseases can cause the initial instability of the craniovertebral junction and be accompanied by gross neurological disorders, which complicates the diagnosis and surgical treatment of these patients.
MATERIAL AND METHODS
We operated on two patients diagnosed with invagination of the odontoid process of the C2 vertebra. In both cases, one-stage operation was performed that included occipitospondylodesis and endoscopic endonasal removal of the C2 odontoid process.
RESULTS
In the postoperative period, partial regression of the neurological symptoms was observed that included an increase in the strength and range of motions in the arms and distal legs, regressed spasticity in the arms and significantly reduced spasticity in the legs, and a significant improvement in all kinds of sensitivity in the arms, legs, and torso. Postoperative liquorrhea was observed in 1 case (patient 2); re-operation to close a CSF fistula was conducted. Later, no signs of liquorrhea were noted. In both cases, control MRI and spiral CT revealed a postoperative bone defect of the C2 odontoid process and clivus, complete decompression of the medulla oblongata and upper cervical spine segments, and no evidence of spinal canal stenosis; the stabilizing system was competent and properly placed.
CONCLUSION
The endoscopic endonasal approach, compared to the standard transoral approach, has significant advantages in that the soft palate remains intact, the oropharynx area is less damaged, and the hospitalization and rehabilitation duration is reduced. Also, there are no problems and complications such as possible failure of sutures in the oral cavity and a large wound surface in the oropharynx area. The patient can eat on his own immediately after the operation without the use of a stomach tube (it does not cause any inflammatory complications of the oral cavity). However, the surgical technique of the endoscopic endonasal approach to the C1-C2 segment is more complex than that of transoral surgery and requires the surgeon to be skilled and experienced.
Topics: Adult; Arthritis, Rheumatoid; Atlanto-Axial Joint; Axis, Cervical Vertebra; Cervical Atlas; Decompression, Surgical; Endoscopy; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Nose; Odontoid Process; Spinal Cord Compression; Tomography, X-Ray Computed; Treatment Outcome
PubMed: 26528618
DOI: 10.17116/neiro201579582-90 -
Arquivos de Neuro-psiquiatria May 2016We proposed a 3D model to evaluate the role of platybasia and clivus length in the development of Chiari I (CI). Using a computer aided design software, two DICOM files...
We proposed a 3D model to evaluate the role of platybasia and clivus length in the development of Chiari I (CI). Using a computer aided design software, two DICOM files of a normal CT scan and MR were used to simulate different clivus lengths (CL) and also different basal angles (BA). The final posterior fossa volume (PFV) was obtained for each variation and the percentage of the volumetric change was acquired with the same method. The initial normal values of CL and BA were 35.65 mm and 112.66º respectively, with a total PFV of 209 ml. Ranging the CL from 34.65 to 29.65 - 24.65 - 19.65, there was a PFV decrease of 0.47% - 1.12% - 1.69%, respectively. Ranging the BA from 122.66º to 127.66º - 142.66º, the PFV decreased 0.69% - 3.23%, respectively. Our model highlights the importance of the basal angle and clivus length to the development of CI.
Topics: Arnold-Chiari Malformation; Computer Simulation; Cranial Fossa, Posterior; Humans; Imaging, Three-Dimensional; Models, Anatomic; Platybasia
PubMed: 27191237
DOI: 10.1590/0004-282X20160041 -
BMC Neurology May 2020We propose two new concepts, the Filum Disease (FD) and the Neuro-cranio-vertebral syndrome (NCVS), that group together conditions thus far considered idiopathic, such...
BACKGROUND
We propose two new concepts, the Filum Disease (FD) and the Neuro-cranio-vertebral syndrome (NCVS), that group together conditions thus far considered idiopathic, such as Arnold-Chiari Syndrome Type I (ACSI), Idiopathic Syringomyelia (ISM), Idiopathic Scoliosis (IS), Basilar Impression (BI), Platybasia (PTB) Retroflexed Odontoid (RO) and Brainstem Kinking (BSK).
METHOD
We describe the symptomatology, the clinical course and the neurological signs of the new nosological entities as well as the changes visible on imaging studies in a series of 373 patients.
RESULTS
Our series included 72% women with a mean age of 33.66 years; 48% of the patients had an interval from onset to diagnosis longer than 10 years and 64% had a progressive clinical course. The commonest symptoms were: headache 84%, lumbosacral pain 72%, cervical pain 72%, balance alteration 72% and paresthesias 70%. The commonest neurological signs were: altered deep tendon reflexes in upper extremities 86%, altered deep tendon reflexes in lower extremities 82%, altered plantar reflexes 73%, decreased grip strength 70%, altered sensibility to temperature 69%, altered abdominal reflexes 68%, positive Mingazzini's test 66%, altered sensibility to touch 65% and deviation of the uvula and/or tongue 64%. The imaging features most often seen were: altered position of cerebellar tonsils 93%, low-lying Conus medullaris below the T12L1 disc 88%, idiopathic scoliosis 76%, multiple disc disease 72% and syringomyelic cavities 52%.
CONCLUSIONS
This is a paradigm shift that opens up new paths for research and broadens the range of therapeutics available to these patients.
Topics: Adolescent; Adult; Aged; Arnold-Chiari Malformation; Brain Stem; Child; Child, Preschool; Female; Headache; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Platybasia; Scoliosis; Syringomyelia; Young Adult
PubMed: 32393196
DOI: 10.1186/s12883-020-01743-y -
Neurosciences (Riyadh, Saudi Arabia) Aug 2020To assess the correlation between craniovertebral junction (CVJ) abnormalities and syringomyelia in patients with Chiari malformation type-1 (CM1).
OBJECTIVE
To assess the correlation between craniovertebral junction (CVJ) abnormalities and syringomyelia in patients with Chiari malformation type-1 (CM1).
METHODS
This was a retrospective study including patients with CM1. Identification of cases was done by searching a radiology database at a university hospital from 2012 to 2017. Patients were divided into 2 groups based on whether CVJ abnormalities were present (CVJ+) or absent (CVJ-). The patients` demographic and clinical data were reviewed. All magnetic resonance imaging studies were examined by a certified neuroradiologist.
RESULTS
Sixty-four consecutive patients with CM1 were included. The mean age was 24+/-17 years; 59% were females. The CVJ+ group had more female patients (p=0.012). The most frequent CVJ abnormality was platybasia (71%), followed by short clivus (44%) and cervical kyphosis (33%). The CVJ abnormalities were more in Syringomyelia cases (p=0.045). However, the results were not significant when hydrocephalus cases were excluded.
CONCLUSION
Among CM1 patients, CVJ abnormalities were found more in patients with syringomyelia. Future studies with larger sample size are required to further study the correlation between CVJ abnormalities and both syringomyelia and hydrocephalus in CM1 patients.
Topics: Adult; Arnold-Chiari Malformation; Atlanto-Occipital Joint; Female; Humans; Male; Retrospective Studies; Syringomyelia; Young Adult
PubMed: 33130812
DOI: 10.17712/nsj.2020.4.20200008