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Clinics (Sao Paulo, Brazil) 2019Basilar invagination (BI) and Chiari malformation type I (CM-I) are very important anomalies that introduce instability and compression in the occipitocervical... (Review)
Review
Basilar invagination (BI) and Chiari malformation type I (CM-I) are very important anomalies that introduce instability and compression in the occipitocervical transition region and have complex clinical characteristics. These anomalies vary according to the affected structures. The present study revises current knowledge regarding the anatomy, anatomo-physiology, clinical manifestations, and radiological findings of these entities and the associated surgical treatment approaches. A bibliographic survey was performed through a search in the Medline, PubMed, SciELO, Science and LILACS databases. When associated, these craniovertebral malformations result in neurological deficits due to neural parenchyma compression; however, the presence of microtraumas due to repetitive lesions caused by the bulb and cervical marrow instability has been highlighted as a determinant dysfunction. Surgical treatment is controversial and has many technical variations. Surgery is also challenging due to the complex anatomical characteristics and biomechanics of this region. Nevertheless, advances have been achieved in our understanding of related mechanisms, and compression and atlantoaxial instability are considered key elements when selecting the surgical approach.
Topics: Arnold-Chiari Malformation; Decompression, Surgical; Humans; Joint Instability; Magnetic Resonance Imaging; Odontoid Process; Platybasia
PubMed: 30970117
DOI: 10.6061/clinics/2019/e653 -
European Radiology Jul 2019To investigate the diagnostic value of clivopalate angle (CPA) for basilar invagination (BI) at magnetic resonance imaging (MRI).
OBJECTIVES
To investigate the diagnostic value of clivopalate angle (CPA) for basilar invagination (BI) at magnetic resonance imaging (MRI).
METHODS
In this retrospective case-control study, CPA, clivodens angle (CDA), and clivoaxial angle (CXA) were measured on midsagittal MR images from 112 patients with BI (22 men; mean age, 43.9 years ± 13.1 years; range, 21-79 years) and 200 control subjects (57 men; mean age, 47.1 years ± 13.3 years; range, 20-80 years). Intraclass correlation coefficient (ICC), linear regression, Mann-Whitney U test, binary logistic regression, and receiver operating characteristic (ROC) curve were used for statistical analysis.
RESULTS
Clivopalate angle showed better inter-observer agreement (ICC = 0.951) than CXA (0.867) or CDA (0.853). CPA significantly correlated with CXA (R = 0.811, p < 0.001) and CDA (R = 0.716, p < 0.001). Patients with BI had a significantly smaller CPA (45.9° ± 9.9°) than control subjects (61.9° ± 6.2°) (p < 0.001). With the optimal cutoff value of 53.5°, CPA had a sensitivity of 0.839 (94/112) and a specificity of 0.915 (183/200). The area under the ROC curve (AUC) was 0.937 (95% CI, 0.911-0.963) for CPA, which was similar to that of CXA (AUC, 0.957; 95% CI, 0.936-0.978) or CDA (AUC, 0.925; 95% CI, 0.892-0.957). The combination of CPA and CDA or CXA showed a higher diagnostic value than CDA or CXA alone.
CONCLUSIONS
The diagnostic performance of CPA was similar to that of CXA or CDA, but CPA might be more reliable in evaluation of BI. CPA provided complementary information to CXA and CDA.
KEY POINTS
• Clivopalate angle has a high diagnostic value for basilar invagination. • Clivopalate angle demonstrates high inter-reader agreement than does clivoaxial angle or clivodens angle. • Clivopalate angle provides complementary information to clivoaxial angle and clivodens angle.
Topics: Adult; Aged; Atlanto-Axial Joint; Case-Control Studies; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Platybasia; ROC Curve; Retrospective Studies; Young Adult
PubMed: 30820721
DOI: 10.1007/s00330-018-5972-3 -
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 -
Frontiers in Genetics 2018Diamond-Blackfan anemia (DBA) is a rare congenital erythroid aplasia with a highly heterogeneous genetic background; it usually occurs in infancy. Approximately 30-40%...
Diamond-Blackfan anemia (DBA) is a rare congenital erythroid aplasia with a highly heterogeneous genetic background; it usually occurs in infancy. Approximately 30-40% of patients have other associated congenital anomalies; in particular, facial anomalies, such as cleft palate, are part of about 10% of the DBA clinical presentations. Pierre Robin sequence (PRS) is a heterogeneous condition, defined by the presence of the triad of glossoptosis, micrognathia and cleft palate; it occurs in 1/8500 to 1/14,000 births. Klippel Feil (KF) syndrome is a complex of both osseous and visceral anomalies, characterized mainly by congenital development defects of the cervical spine. We describe the case of a 22-years-old woman affected by DBA, carrying a deletion about 500 Kb-long at 12q13.2-q13.3 that included and, at least, others 25 flanking genes. The patient showed craniofacial anomalies due to PRS and suffered for KF deformities (type II). Computed Tomography study of cranio-cervical junction (CCJ) drew out severe bone malformations and congenital anomalies as atlanto-occipital assimilation (AOA), arcuate foramen and occipito-condylar hyperplasia. Foramen magnum was severely reduced. Atlanto-axial instability (AAI) was linked to atlanto-occipital assimilation, congenital vertebral fusion and occipito-condyle bone hyperplasia. Basilar invagination and platybasia were ruled out on CT and Magnetic Resonance Imaging (MRI) studies. Furthermore, the temporal Bone CT study showed anomalies of external auditory canals, absent mastoid pneumatization, chronic middle ear otitis and abnormal course of the facial nerve bones canal. The described phenotype might be related to the peculiar deletion affecting the patient, highlighting that genes involved in the in the breakdown of extracellular matrix (), in cell cycle regulation (, vesicular trafficking (, in ribonucleoprotein complexes formation () and muscles function ( and ) could be potentially related to bone-developmental disorders. Moreover, it points out that multiple associated ribosomal deficits might play a role in DBA-related phenotypes, considering the simultaneous deletion of three of them in the index case ( and , and it confirms the association among functional disruption and severe myopia. This report highlights the need for a careful genetic evaluation and a detailed phenotype-genotype correlation in each complex malformative syndrome.
PubMed: 30524470
DOI: 10.3389/fgene.2018.00549 -
Neurology India 2018
Topics: Arnold-Chiari Malformation; Atlanto-Axial Joint; Decompression, Surgical; Humans; Joint Instability; Platybasia; Syringomyelia
PubMed: 30038072
DOI: 10.4103/0028-3886.236992 -
Medicine Apr 2018Rod breakage after occipitocervical fusion (OCF) has never been described in a patient who has undergone surgery for basilar invagination (BI) and atlantoaxial...
RATIONALE
Rod breakage after occipitocervical fusion (OCF) has never been described in a patient who has undergone surgery for basilar invagination (BI) and atlantoaxial dislocation (AAD). Here, we present an unusual but significant case of revision surgery to correct this complication.
PATIENT CONCERNS
A 32-year-old female presented with neck pain, unstable leg motion in walking, and also BI with AAD. Her first surgery was planned to correct these conditions and for fusion at the occipital junction (C3-4) using a screw-rod system. At the 31-month follow-up after her first operation, the patient complained of severe neck pain and limitation of motion, suggesting rod breakage.
DIAGNOSES
Rod breakage after occipitocervical fusion for BI and AAD.
INTERVENTIONS
The patient underwent reoperation for replacement of the broken rods, adjustment of the occipitocervical angle, maintenance of the bone graft bed, and fusion.
OUTCOMES
At follow-up, the hardware was found to be in good condition, with no significant loss of cervical lordosis. At the 37-month follow-up after her second operation, the patient was doing better and continuing to recover.
LESSONS
We concluded that nonideal choice of occipitocervical angle may play an important role in rod breakage; however, an inadequate bone graft and poor postoperative fusion may also contribute to implant failure.
Topics: Adult; Atlanto-Axial Joint; Bone Transplantation; Cervical Vertebrae; Equipment Failure; Female; Follow-Up Studies; Humans; Imaging, Three-Dimensional; Joint Dislocations; Kyphosis; Occipital Bone; Odontoid Process; Platybasia; Postoperative Complications; Reoperation; Spinal Fusion; Tomography, X-Ray Computed
PubMed: 29642217
DOI: 10.1097/MD.0000000000010441 -
BDJ Open 2017Osteogenesis imperfecta type III (OMIM 259420) is a severe autosomal recessive disorder. Affected individuals have multiple fractures, develop limb deformities with...
OBJECTIVES
Osteogenesis imperfecta type III (OMIM 259420) is a severe autosomal recessive disorder. Affected individuals have multiple fractures, develop limb deformities with spinal malalignment and stunted stature.
MATERIALS AND METHODS
The frequency of Osteogenesis imperfecta type III (OI III) is relatively high in the indigenous Black African population of South Africa. A review of the literature revealed a paucity of information regarding the craniofacial manifestations of the disorder in this ethnic group. The findings in 64 affected persons are documented.
RESULTS
These abnormalities are related to the abnormal bone matrix which results in a deformed skull and dental malocclusion. The physiological process of swallowing may be an aetiological factor in the progressive development of a flattened palate. Mild changes in the shape of the head of the mandibular condyle and a lack of cortical bone on the joint surfaces were observed on cone beam computed tomography (CBCT) images. Affected persons had marked variations in the paranasal sinuses, including sinus hypoplasia and partial opacification. Cranial base anomalies were diagnosed from cephalometric radiographs and lateral skull radiographs. Platybasia and a 'J' shaped sella turcica were observed.
CONCLUSION
The craniofacial abnormalities emphasize the importance of a raised level of awareness in terms of dental management and the challenges.
PubMed: 29607091
DOI: 10.1038/bdjopen.2017.21 -
Acta Medica Academica Nov 2017This study adds important information regarding the morphological alterations caused by growth hormone hypersecretion in the skull and craniocervical junction (CCJ). A...
OBJECTIVE
This study adds important information regarding the morphological alterations caused by growth hormone hypersecretion in the skull and craniocervical junction (CCJ). A variably asymmetric skull due to acromegaly coexists with expansion of the paranasal sinuses and multiple Wormian bones.
CASE REPORT
A pathologically asymmetric dry skull of a European male, aged 38 years at death, with cranial vault and skull base thickening is described. The extensive paranasal sinus pneumatization caused a generalized thinning of the bony walls. The sphenoid sinus expanded intraorbitally, leading to sella enlargement. The orbital asymmetry coexisted with platybasia and hypoplasia of the occipital condyles and the odontoid process. Facial skeleton elongation and mandibular overgrowth were combined with prognathism, malocclusion and overbite.
CONCLUSION
Skull and CCJ alterations are of paramount importance when selecting the surgical approach, if surgery is indicated. Consecutively, detailed preoperative evaluation and planning is essential. During surgery, skilled and experienced neurosurgeons recognize anatomical landmarks, use neuronavigation and micro-instrumentation in order to remain on the midline avoiding any potential lethal vascular injury.
Topics: Acromegaly; Adult; Humans; Male; Occipital Bone; Odontoid Process; Skull; Sphenoid Sinus
PubMed: 29338280
DOI: 10.5644/ama2006-124.201 -
Experimental and Therapeutic Medicine Dec 2017Chiari malformation type I (CM-I) is a common hindbrain disorder that is associated with deformity and elongation of the cerebellar tonsils. Although CM-I occurs in both...
Chiari malformation type I (CM-I) is a common hindbrain disorder that is associated with deformity and elongation of the cerebellar tonsils. Although CM-I occurs in both pediatric and adult patients, its prevalence, clinical features and management in the pediatric population are not well defined. The current study evaluated a consecutive case series of 92 children (38 females and 54 males) who were diagnosed with congenital CM-I. All patients underwent small-bone-window posterior fossa decompression with autologous-fascia duraplasty. Clinical and radiological features were analyzed and long-term follow-up data were recorded. Risk factors associated with clinical outcomes were investigated using comprehensive statistical methods. Out of the 92 children, 11 (12.0%) were asymptomatic. Associated ventricular dilation was observed in 24 children (26.1%) and concomitant syringomyelia was observed in 72 children (78.3%). A total of 44 children (47.8%) showed scoliosis on plain films. Follow-up data (mean duration, 88.6 months) were available for all patients. Syringomyelia was absent or markedly reduced in 56 patients (77.8%). Symptoms were alleviated in 66 patients, remained unchanged in 12 patients and progressed in 3 patients. Statistical analysis indicated that the cerebellar tonsillar descent (CTD) grade, basilar invagination and platybasia influenced the clinical outcome (P<0.05). In conclusion, early recognition and surgical treatment of CM-I in pediatric patients can lead to good outcomes. The current results suggested that small-bone-window posterior fossa decompression with autologous-fascia duraplasty was an effective safe treatment option with a low complication rate. High CTD grade, basilar invagination and platybasia were indicated to be predictors of poor clinical prognosis.
PubMed: 29285106
DOI: 10.3892/etm.2017.5211 -
Arquivos de Neuro-psiquiatria Jul 2017Cross-sectional analysis of craniometric parameters from individuals submitted to magnetic resonance at an outpatient imaging center between 2011 and 2012.
METHODS
Cross-sectional analysis of craniometric parameters from individuals submitted to magnetic resonance at an outpatient imaging center between 2011 and 2012.
RESULTS
Of 181 analyzed cases, the Welcker basal angle averaged 128.96º (SD 6.51), median distance between apex of the odontoid and Chamberlain's line was 2.27 mm (IQR -1.23-4.47) and the median clivus-canal angle was 150.5º (IQR 143.2-157.3). The Welcker basal angle was inversely correlated to the clivus-canal angle, and correlated to the distance between the apex of the odontoid and Chamberlain's line.
CONCLUSION
There was a tendency to platibasia, basilar invagination and narrowing of the cranio-vertebral transition.
Topics: Brazil; Cross-Sectional Studies; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Odontoid Process; Platybasia; Reference Values; Skull Base
PubMed: 28746426
DOI: 10.1590/0004-282X20170071