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Croatian Medical Journal Aug 2001Osteogenesis imperfecta (OI), or brittle bone disease, is a heritable disorder characterized by increased bone fragility. Four different types of the disease are... (Review)
Review
Osteogenesis imperfecta (OI), or brittle bone disease, is a heritable disorder characterized by increased bone fragility. Four different types of the disease are commonly distinguished, ranging from a mild condition (type I) to a lethal one (type II). Types III and IV are the severe forms surviving the neonatal period. In most cases, there is a reduction in the production of normal type I collagen or the synthesis of abnormal collagen as a result of mutations in the type I collagen genes. These classic forms of OI are described in this review. There are instances, however, where alterations in bone matrix components, other than type I collagen, are the basic abnormalities of the OI. Recently, three such discrete types have been identified by histomorphometric evaluation (types V and VI) and linkage analysis (Rhizomelic OI). They provide evidence for the as yet poorly understood complexity of the phenotype-genotype correlation in OI. We also discuss bisphosphonates treatment as well as fracture management and surgical correction of deformities observed in the patients with OI. However, ultimately, strengthening bone in OI will involve steps to correct the underlying genetic mutations that are responsible for this disorder. Thus, we also describe different genetic therapeutic approaches that have been tested either on OI cells or on available OI murine models.
Topics: Animals; Child; Diphosphonates; Disease Models, Animal; Genetic Linkage; Genetic Therapy; Humans; Mice; Mutation; Osteogenesis Imperfecta; Platybasia; Polymorphism, Single-Stranded Conformational; Scoliosis
PubMed: 11471191
DOI: No ID Found -
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 -
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 -
Einstein (Sao Paulo, Brazil) Sep 2014To analyze the variations in the angle basal sphenoid skulls of adult humans and their relationship to sex, age, ethnicity and cranial index.
OBJECTIVE
To analyze the variations in the angle basal sphenoid skulls of adult humans and their relationship to sex, age, ethnicity and cranial index.
METHODS
The angles were measured in 160 skulls belonging to the Museum of the Universidade Federal de São Paulo Department of Morphology. We use two flexible rules and a goniometer, having as reference points for the first rule the posterior end of the ethmoidal crest and dorsum of the sella turcica, and for the second rule the anterior margin of the foramen magnum and clivus, measuring the angle at the intersection of two.
RESULTS
The average angle was 115.41°, with no statistical correlation between the value of the angle and sex or age. A statistical correlation was noted between the value of the angle and ethnicity, and between the angle and the horizontal cranial index.
CONCLUSION
The distribution of the angle basal sphenoid was the same in sex, and there was correlation between the angle and ethnicity, being the proportion of non-white individuals with an angle >125° significantly higher than that of whites with an angle >125°. There was correlation between the angle and the cranial index, because skulls with higher cranial index tend to have higher basiesfenoidal angle too.
Topics: Adolescent; Adult; Age Factors; Aged; Aged, 80 and over; Cephalometry; Female; Humans; Male; Middle Aged; Platybasia; Reference Values; Sex Factors; Sphenoid Bone; Statistics, Nonparametric; Young Adult
PubMed: 25295452
DOI: 10.1590/s1679-45082014ao2933 -
Medicina (Kaunas, Lithuania) Apr 2024: To present a novel technique of treatment for a patient with basilar invagination. Basilar invagination (BI) is a congenital condition that can compress the... (Review)
Review
: To present a novel technique of treatment for a patient with basilar invagination. Basilar invagination (BI) is a congenital condition that can compress the cervicomedullary junction, leading to neurological deficits. Severe cases require surgical intervention, but there is debate over the choice of approach. The anterior approach allows direct decompression but carries high complication rates, while the posterior approach provides indirect decompression and offers good stability with fewer complications. : A 15-year-old boy with severe myelopathy presented to our hospital with neck pain, bilateral upper limb muscle weakness, and hand numbness persisting for 4 years. Additionally, he experienced increased numbness and gait disturbance three months before his visit. On examination, he exhibited hyperreflexia in both upper and lower limbs, muscle weakness in the bilateral upper limbs (MMT 4), bilateral hypoesthesia below the elbow and in both legs, mild urinary and bowel incontinence, and a spastic gait. Radiographs revealed severe basilar invagination (BI). Preoperative images showed severe BI and that the spinal cord was severely compressed with odontoid process. : The patient underwent posterior surgery with the C-arm free technique. All screws including occipital screws were inserted into the adequate position under navigation guidance. Reduction was achieved with skull rotation and distraction. A follow-up at one year showed the following results: Manual muscle testing results and sensory function tests showed almost full recovery, with bilateral arm recovery (MMT 5) and smooth walking. The cervical Japanese Orthopedic Association score of the patient improved from 9/17 to 16/17. Postoperative images showed excellent spinal cord decompression, and no major or severe complications had occurred. : Basilar invagination alongside Klippel-Feil syndrome represents a relatively uncommon condition. Utilizing a posterior approach for treating reducible BI with a C-arm-free technique proved to be a safe method in addressing severe myelopathy. This novel navigation technique yields excellent outcomes for patients with BI.
Topics: Humans; Male; Adolescent; Klippel-Feil Syndrome; Decompression, Surgical; Platybasia; Treatment Outcome; Spinal Cord Compression
PubMed: 38674263
DOI: 10.3390/medicina60040616 -
Neurology India 2022
Topics: Atlanto-Axial Joint; Humans; Platybasia
PubMed: 36076712
DOI: 10.4103/0028-3886.355162 -
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 -
Revista Da Associacao Medica Brasileira... Mar 2020Symptomatic Chiari Type I Malformation (CM) is treated with posterior fossa decompression with or without duroplasty. We have noticed some cases with concomitant severe...
BACKGROUND
Symptomatic Chiari Type I Malformation (CM) is treated with posterior fossa decompression with or without duroplasty. We have noticed some cases with concomitant severe cerebellar ataxia due to cerebellar atrophy. The aim of this study is to review the literature of CM associated with severe cerebellar atrophy and discuss its potential physiopathology.
METHODS
A systematic literature review in the Pubmed Database was performed using the following key-terms: "cerebellar atrophy Chiari", and "cerebellar degeneration Chiari". Articles reporting the presence of cerebellar degeneration/atrophy associated with CM were included.
RESULTS
We found only six studies directly discussing the association of cerebellar atrophy with CM, with a total of seven cases. We added one case of our own practice for additional discussion. Only speculative causes were described to justify cerebellar atrophy. The potential causes of cerebellar atrophy were diffuse cerebellar ischemia from chronic compression of small vessels (the most mentioned speculative cause), chronic raised intracranial pressure due to CSF block, chronic venous hypertension, and association with platybasia with ventral compression of the brainstem resulting in injury of the inferior olivary nuclei leading to mutual trophic effects in the cerebellum. Additionally, it is not impossible to rule out a degenerative cause for cerebellar atrophy without a causative reason.
CONCLUSIONS
Severe cerebellar atrophy is found in some patients with CM. Although chronic ischemia due to compression is the most presumed cause, other etiologies were proposed. The real reasons for cerebellar degeneration are not known. Further studies are necessary.
Topics: Arnold-Chiari Malformation; Atrophy; Cerebellar Diseases; Cerebellum; Decompression, Surgical; Female; Humans; Magnetic Resonance Imaging; Male
PubMed: 32520161
DOI: 10.1590/1806-9282.66.3.375 -
Journal of Bone and Mineral Research :... May 2012Pathology in the craniocervical junction is a serious complication of osteogenesis imperfecta (OI). Our aim was to analyze the prevalence and natural course of...
Pathology in the craniocervical junction is a serious complication of osteogenesis imperfecta (OI). Our aim was to analyze the prevalence and natural course of craniocervical junction anomalies in patients with OI during growth. In a one-center retrospective study, we analyzed lateral skull radiographs and midsagittal magnetic resonance images of 76 patients with either type I, III, or IV OI. The material included longitudinal series of 31 patients. In total, 150 patient images taken at ages 0 to 39 years were analyzed and compared with age-matched control data. Craniocervical anomalies were observed in 37% of patients and in all OI types studied. Of the three types of anomalies, basilar invagination was seen in 13%, basilar impression in 15%, and platybasia in 29% of the patients. From those with an abnormal finding, 44% displayed more than one type of anomaly. At a group level, we found no evidence of progression of craniocervical junction pathology with age. We provide longitudinal and cross-sectional data on craniocervical junction dimensions in growing patients with OI and, based on those, suggest a radiological management strategy for diagnosis of cranial base pathology. A higher risk of having any of the pathological conditions was associated with a lower height Z-score. Careful follow-up of cranial base anomalies particularly in subjects with OI and severe growth failure is warranted.
Topics: Adolescent; Adult; Case-Control Studies; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Longitudinal Studies; Male; Osteogenesis Imperfecta; Retrospective Studies; Skull Base
PubMed: 22258757
DOI: 10.1002/jbmr.1555 -
BMJ Case Reports Jun 2012A teenage girl presented with progressively worsening neck and occipital pain since 8 months ago that was associated with restriction of neck movements, low to moderate...
A teenage girl presented with progressively worsening neck and occipital pain since 8 months ago that was associated with restriction of neck movements, low to moderate grade fever, anorexia and weight loss followed by gradually progressive quadriparesis since 3 months ago. Neurological examination revealed spastic quadriparesis without cranial nerve palsy. MRI of the cervical spine revealed prevertebral and paravertebral abscess from clivus to C2/C3 level, which extended into the anterior epidural space at C1-C3 level, causing atlantoaxial dislocation. There was evidence of basilar invagination. The dislocated dens caused compression over the cervicomedullary junction. On this basis, a diagnosis of craniovertebral junction Pott's disease was made. The patient was given neck immobilisation with cervical collar, and antitubercular treatment was started. She showed significant improvement in her neurological deficit during follow-up.
Topics: Adolescent; Atlanto-Occipital Joint; Cervical Vertebrae; Diagnosis, Differential; Female; Humans; Immobilization; Magnetic Resonance Imaging; Platybasia; Spinal Cord Compression
PubMed: 22669923
DOI: 10.1136/bcr.02.2012.5851