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European Spine Journal : Official... Oct 2001A review of the literature was conducted to study the pathomechanics by which Paget's Disease of bone (PD) alters the spinal structures that result in distinct spinal... (Review)
Review
A review of the literature was conducted to study the pathomechanics by which Paget's Disease of bone (PD) alters the spinal structures that result in distinct spinal pathologic entities such as pagetic spinal arthritis, spinal stenosis, and other pathologies, and to assess the best treatment options and available drugs. The spine is the second most commonly affected site with PD. About one-third of patients with spinal involvement exhibit symptoms of clinical stenosis. In only 12-24% of patients with PD of the spine is back pain attributed solely to PD, while in the majority of patients back pain is either arthritic in nature or a combination of a pagetic process and coexisting arthritis. Neural element dysfunction may be attributed to compressive myelopathy by pagetic bone overgrowth, pagetic intraspinal soft tissue overgrowth, ossification of epidural fat, platybasia, spontaneous bleeding, sarcomatous degeneration and vertebral fracture or subluxation. Neural dysfunction can also result from spinal ischemia, when blood is diverted by the so-called "arterial steal syndrome". Because the effectiveness of pharmacologic treatment for pagetic spinal stenosis has been clearly demonstrated, surgical decompression should only be instituted after failure of antipagetic medical treatment. Surgery is indicated as a primary treatment when neural compression is secondary to pathologic fractures, dislocations, spontaneous epidural hematoma, syringomyelia, platybasia, or sarcomatous transformation. Since, in the majority of cases with pagetic spinal involvement, there are also coexisting osteoarthritic changes, antipagetic medical treatment alone may be disappointing. Therefore, one must be careful before attributing low back pain to PD alone. Five classes of drugs are available for the treatment of PD: bisphosphonates, calcitonins, mithramycin (plicamycin), gallium nitrate, and ipriflavone. Bisphosphonates are the most popular, and several forms have been investigated, but only the following forms have been approved for clinical use: disodium etidronate, clodronate, aledronate, risedronate, neridronate, pamidronate, tiludronate, ibadronate, aminohydroxylbutylidene bisphosphonate, olpadronate, and zoledronate. Several of these forms are still under investigation.
Topics: Humans; Osteitis Deformans; Prevalence; Spinal Diseases
PubMed: 11718191
DOI: 10.1007/s005860100329 -
World Neurosurgery Jul 2023Patients with Chiari malformation (CM) associated with atlantoaxial dislocation (AAD) and basilar invagination (BI) may present with a small posterior cranial fossa, but...
OBJECTIVE
Patients with Chiari malformation (CM) associated with atlantoaxial dislocation (AAD) and basilar invagination (BI) may present with a small posterior cranial fossa, but data on the volumetric analysis are lacking. Additionally, whether additional foramen magnum decompression (FMD) is needed together with atlantoaxial fusion remains controversial. This study evaluated the volumetric alterations of the posterior cranial fossa in these patients and analyzed the radiological and clinical outcomes after posterior C1-C2 reduction and fixation plus C1 posterior arch resection.
METHODS
Thirty-two adult CM patients with AAD and BI (CM-AAD/BI group) and 21 AAD and BI patients without CM (AAD/BI-only group) who received posterior atlantoaxial fusion plus C1 posterior arch resection were retrospectively studied. The clinical and radiological outcomes and volumetric measurements of the posterior cranial fossa were evaluated.
RESULTS
The majority of CM-AAD/BI patients (94%) improved clinically and radiologically at 12 mo postoperatively, and none required additional FMD. Morphological analysis revealed a significant reduction in the bony posterior cranial fossa volumes of the CM-AAD/BI group (P < 0.01) and the AAD/BI-only group (P < 0.01) relative to those of the CM group. No significant differences were observed between the CM-AAD/BI and AAD/BI groups.
CONCLUSIONS
Compared with patients with simple CM, patients with AAD/BI with or without CM demonstrated a considerably and equally reduced bony posterior cranial fossa volume. No additional FMD is needed in the treatment of CM-AAD/BI patients after posterior reduction and fusion plus C1 posterior arch resection.
Topics: Adult; Humans; Retrospective Studies; Arnold-Chiari Malformation; Platybasia; Joint Dislocations; Atlanto-Axial Joint; Decompression, Surgical; Neck Injuries; Spinal Fusion
PubMed: 37087038
DOI: 10.1016/j.wneu.2023.04.064 -
Neurology India 2009Institute and personal experience (over 25 years) of basilar invagination was reviewed. The database of the department included 3300 patients with craniovertebral... (Review)
Review
Institute and personal experience (over 25 years) of basilar invagination was reviewed. The database of the department included 3300 patients with craniovertebral junction pathology from the year 1951 till date. Patients with basilar invagination were categorized into two groups based on the presence (Group A) or absence (Group B) of clinical and radiological evidence of instability of the craniovertebral junction. Standard radiological parameters described by Chamberlain were used to assess the instability of the craniovertebral junction. The pathogenesis and clinical features in patients with Group A basilar invagination appeared to be related to mechanical instability, whereas it appeared to be secondary to embryonic dysgenesis in patients with Group B basilar invagination. Treatment by facetal distraction and direct lateral mass fixation can result in restoration of craniovertebral and cervical alignment in patients with Group A basilar invagination. Such a treatment can circumvent the need for transoral or posterior fossa decompression surgery. Foramen magnum bone decompression appears to be a rational surgical treatment for patients having Group B basilar invagination. The division of patients with basilar invagination on the basis of presence or absence of instability provides insight into the pathogenesis of the anomaly and a basis for rational surgical treatment.
Topics: Arnold-Chiari Malformation; Atlanto-Axial Joint; Decompression, Surgical; Foramen Magnum; Humans; Magnetic Resonance Imaging; Platybasia; Syringomyelia; Tomography, X-Ray Computed
PubMed: 19587461
DOI: 10.4103/0028-3886.53260 -
Journal of Craniovertebral Junction &... 2016For a long time the terms basilar invagination and platybasia were used interchangeably. Basilar invagination has been defined as a prolapse of the vertebral column into...
For a long time the terms basilar invagination and platybasia were used interchangeably. Basilar invagination has been defined as a prolapse of the vertebral column into the spinal cord. Platybasia is defined as an abnormal obtuse angle between the anterior skull base and the clivus. The authors review the existing literature and summarize the historical and modern perspectives in the management of basilar invagination. From radiological curiosities, the subject of basilar invagination is now viewed as eminently treatable. The more pronounced understanding of the subject has taken place in the last three decades when on the basis of understanding of the biomechanical subtleties the treatment paradigm has remarkably altered. From surgery that involved decompression of the region, stabilization and realignment now form the basis of treatment.
PubMed: 36988983
DOI: 10.4103/0974-8237.181856 -
Bone Jan 2022In the context of a lack of national consensus on the benefits of skull base imaging in children with osteogenesis imperfecta (OI), this study aims to analyse and...
OBJECTIVES
In the context of a lack of national consensus on the benefits of skull base imaging in children with osteogenesis imperfecta (OI), this study aims to analyse and correlate the clinical symptoms and radiological images of children with severe OI.
METHODS
A retrospective case notes and image analysis was carried out on children with complex OI between 2012 and 2018 at a specialist tertiary centre. Data were collected on patient demographic factors, clinical data, imaging findings (presence of Wormian bones, platybasia, basilar impression (McGregor's technique) and basilar invagination (McRae's technique)), and clinical features at the time of imaging.
RESULTS
Of the 127 patients in the OI database, 94 were included. A total of 321 radiographs, 21 CT scans and 39 MRI scans were analysed. Average frequency of radiographs was 8 per 10 years. Of the 94 patients, 58 (62%), 10 (11%), 1 (1%) demonstrated platybasia, basilar impression, and basilar invagination, respectively. Of the radiographs analysed, platybasia, basilar impression, basilar invagination, and the presence of Wormian bones, could not be evaluated in 71 (22.3%), 48 (15.2%), 61 (19.5%) and 28 (9.4%) radiographs respectively (due to poor positioning, anatomical abnormalities, and poor image quality). Of the 140 radiographs with platybasia, 17 (12%) also demonstrated basilar impression compared to only 3 (2.9%) out of the 99 without platybasia (p = 0.03). No significant associations were seen between the presence of Wormian bones and basilar impression. Of the 39 MRIs, additional information on CSF flow rate, spinal cord signal and cerebellar morphology was reported in 14 (36%). There was a lack of concordance between MRI and matched radiographs in 7.1% (1/14) and 36% (5/14) for platybasia and basilar impression respectively, with full concordance for basilar invagination. Fewer than 5% had positive clinical symptoms/signs at the time of imaging; 2% (7/321) had macrocephaly, 0.6% (2/321) headache, all other neurological features were absent). Clinical features were not documented in >85% of patients.
CONCLUSION
The apparent low prevalence of clinical symptoms and signs and of radiologically identified cranio-cervical abnormalities, suggests that current levels of serial imaging may be excessive. Until larger prospective studies clarify these issues, we suggest a clinical pathway for base of skull imaging which proposes a risk stratification approach to radiographic frequency and suggests parameters for proceeding to MRI.
Topics: Child; Critical Pathways; Humans; Osteogenesis Imperfecta; Prospective Studies; Retrospective Studies; Skull Base
PubMed: 34688943
DOI: 10.1016/j.bone.2021.116235 -
Turkish Neurosurgery 2023To compare the posterior cranial fossa (PCF) dimensions together with the measurements related to basilar invagination and platybasia of craniovertebral junction...
AIM
To compare the posterior cranial fossa (PCF) dimensions together with the measurements related to basilar invagination and platybasia of craniovertebral junction anomalies (CVJA) in CVJA (+) and CVJA (-) Chiari malformation Type 1 (CM1) patient groups with each other and with healthy control subjects.
MATERIAL AND METHODS
The study group was formed of 43 CM1 and 9 tonsillar ectopia (TE) patients.
RESULTS
A decrease was determined in the PCF vertical length (clivus and supraocciput line) and PCF volume and an increase in the transverse length (McRae and Twining line) in the CM1 cases compared to the healthy control group. There was no difference between the CVJA (+) and (-) CM1 groups in respect of the vertical and transverse length and PCF volume values. An increase in the classic and modified skull base angles was observed in the CVJA (+) CM1 group compared to the CVJA (-) CM1 group. The Wackenheim clivus angle was determined to be smaller in the CVJA (+) CM1 group compared to the CVJA (-) CM1 group.
CONCLUSION
The PCF is flattened and smaller in CM1 cases compared to normal control subjects. In the planning of CM1 operations, the angle parameters may be more useful than the PCF and CVJA length parameters between CVJA (+) and (-) CM1 groups. The significant decrease in postoperative recovery in the CVJA (+) CM1 group compared to the CVJA (-) CM1 group supports the need for additional operations and/or a different surgical technique in the treatment of CVJA (+) CM1 patients.
Topics: Humans; Magnetic Resonance Imaging; Skull Base; Cranial Fossa, Posterior; Tomography, X-Ray Computed; Arnold-Chiari Malformation
PubMed: 36128920
DOI: 10.5137/1019-5149.JTN.41458-22.1 -
Children (Basel, Switzerland) Jun 2023Osteogenesis Imperfecta (OI) is a disease that causes bone fragility and deformities, affecting both the cranial base and the craniocervical junction, and may lead to...
Osteogenesis Imperfecta (OI) is a disease that causes bone fragility and deformities, affecting both the cranial base and the craniocervical junction, and may lead to other neurological disorders. A retrospective cross-sectional study was carried out based on cephalometric analysis of the cranial base in a sample of patients with OI, in lateral skull radiographs and magnetic resonance imaging (MRI), comparing them with a sample of age-matched controls. When the different variables of the craniocervical junction were analyzed, significance was found in comparisons with the different age groups. All measurements of the variables studied stabilized as growth progressed. For most of the variables, the severity of the disease influences the measurements of the skull base, with statistically significant differences. Both age and severity of the disease are factors that directly influence the anatomy of the craniocervical junction in these patients and may serve as indicators in the early detection and prevention of other derived alterations.
PubMed: 37371261
DOI: 10.3390/children10061029 -
Journal of Neurology, Neurosurgery, and... Feb 1955
Topics: Occipital Bone; Platybasia
PubMed: 14368325
DOI: 10.1136/jnnp.18.1.58 -
Medicine Sep 2022Retrospective cross-sectional study To evaluate the validity and obtain optimal cutoff values of 3 radiologic measurements for the diagnosis of basilar invagination...
Retrospective cross-sectional study To evaluate the validity and obtain optimal cutoff values of 3 radiologic measurements for the diagnosis of basilar invagination (BI). Two hundred seventy-six patients (46 patients who underwent atlantoaxial fusion for BI and 230 patients who were treated for minor cervical trauma) seen in a single institution from January 2010 to December 2016 were included in this study. Age, sex, and body mass index were adjusted for the patients. The Ranawat index (RI), modified Ranawat method (MRM), and Redlund-Johnell method (RJM) were used to diagnose BI on plain radiographs. The sensitivity, specificity, positive predictive value, negative predictive value, accuracy, and diagnostic odds ratio of 3 radiologic measurements were compared. We also calculated the optimized cutoff values of 3 radiologic measurements using the receiver operating characteristic curve in our patients. The mean age of the 130 women and 146 men was 58.3 ± 14.5 years. The mean values of RI, MRM, and RJM in the BI group were 12.5 ± 3.3, 23.1 ± 3.8, and 27.3 ± 3.6 in women and 13.6 ± 2.6, 26.8 ± 4.2, and 34.7 ± 5.1 in men. There was a significant difference between the sexes (P < .05). The accuracies of RI, MRM, and RJM were 95%, 89.6%, and 92.3% in women and 93%, 68.2%, and 85.4% in men, respectively. The optimized cutoff values of RI, MRM, and RJM were 14, 26, and 32 mm in women and 15, 29, and 38 mm in men. Three radiologic measurements (RI, MRM, and RJM) are reliable for the diagnosis of BI even in the era of cross-sectional images. The validity of these measurements depends on sex and particular radiologic measurement. The optimized cutoff values of RI, MRM, and RJM were 14, 26, and 32 mm in women and 15, 29, and 37 mm in men. These cutoff values showed high validity when compared to the CT and MRI findings.
Topics: Adult; Aged; Atlanto-Axial Joint; Cross-Sectional Studies; Female; Humans; Male; Middle Aged; Platybasia; Radiography; Retrospective Studies
PubMed: 36197204
DOI: 10.1097/MD.0000000000030552 -
Bone Nov 2022Mutations in CRTAP lead to an extremely rare form of recessive osteogenesis imperfecta (OI). CRTAP deficient mice have a brachycephalic skull, fusion of facial bones,...
Mutations in CRTAP lead to an extremely rare form of recessive osteogenesis imperfecta (OI). CRTAP deficient mice have a brachycephalic skull, fusion of facial bones, midface retrusion and class III dental malocclusion, but in humans, the craniofacial and dental phenotype has not been reported in detail. Here, we describe craniofacial and dental findings in two 11-year-old girls with biallelic CRTAP mutations. Patient 1 has a homozygous c.472-1021C>G variant in CRTAP intron 1 and a moderately severe OI phenotype. The variant is known to create a cryptic splice site, leading to a frameshift and nonsense-mediated RNA decay. Patient 1 started intravenous bisphosphonate treatment at 2 years of age. At age 11 years, height Z-score was +0.6. She had a short and wide face, concave profile and class III malocclusion, with a prognathic mandible and an antero-posterior crossbite. A panoramic radiograph showed a poor angulation of the second upper right premolar, and no dentinogenesis imperfecta or dental agenesis. Cone-beam computed tomography confirmed these findings and did not reveal any other abnormalities. Patient 2 has a homozygous CRTAP deletion of two amino acids (c.804_809del, p.Glu269_Val270del) and a severe OI phenotype. As previously established, the variant leads to instability of CRTAP protein. Intravenous bisphosphonate treatment was started at the age of 15 months. At 11 years of age her height Z-score was -9.7. She had a long and narrow face and convex profile, maxillary retrusion leading to a class III malocclusion, an edge-to-edge overjet and lateral open bite. Panoramic radiographs showed no dental abnormalities. Cone-beam computed tomography showed occipital bossing, platybasia and wormian bones. In these two girls with CRTAP mutations, the severity of the skeletal phenotype was mirrored in the severity of the craniofacial phenotype. Class III malocclusion and antero-posterior crossbite were a common trait, while dental agenesis or dentinogenesis imperfecta were not detected.
Topics: Amino Acids; Animals; Child; Diphosphonates; Extracellular Matrix Proteins; Female; Humans; Infant; Malocclusion; Mice; Molecular Chaperones; Mutation; Osteogenesis Imperfecta; Phenotype; RNA Splice Sites; Skull
PubMed: 35970273
DOI: 10.1016/j.bone.2022.116516