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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 -
Child's Nervous System : ChNS :... May 2022Osteogenesis imperfecta (OI) is a rare bone disease due to an abnormal synthesis of 1-type collagen. OI is frequently associated with basilar impression (BI), defined by...
Severe Basilar impression in osteogenesis imperfecta treated with halo gravity traction, occipitocervicothoracic fusion, foramen magnum and upper cervical decompression and expansive duroplasty: a technical note.
Osteogenesis imperfecta (OI) is a rare bone disease due to an abnormal synthesis of 1-type collagen. OI is frequently associated with basilar impression (BI), defined by the elevation of the clivus and floor of the posterior fossa with subsequent migration of the upper cervical spine and the odontoid peg into the base of the skull. Bone intrinsic fragility leading to fractures and deformity, brainstem compression and impaired CSF circulation at cranio-vertebral junction (CVJ) makes the management of these conditions particularly challenging. Different surgical strategies, including posterior fossa decompression with or without instrumentation, transoral or endonasal decompression with posterior occipito-cervical fusion, or halo gravity traction with posterior instrumentation have been reported, but evidence about best modalities treatment is still debated. In this technical note, we present a case of a 16-years-old patient, diagnosed with OI and BI, treated with halo traction, occipito-cervico-thoracic fixation, foramen magnum and upper cervical decompression, and expansive duroplasty. We focus on technical aspects, preoperative work up and postoperative follow up. We also discuss advantages and limitations of this strategy compared to other surgical techniques.
Topics: Adolescent; Cervical Vertebrae; Decompression; Foramen Magnum; Humans; Osteogenesis Imperfecta; Platybasia; Traction
PubMed: 35296931
DOI: 10.1007/s00381-022-05495-7 -
Journal of Clinical Neurology (Seoul,... Mar 2022
PubMed: 35274843
DOI: 10.3988/jcn.2022.18.2.241 -
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 -
Neurology India 2021Vertebral artery (VA) may run an anomalous course in congenital craniovertebral junction anomalies. Anomalous VA, though rare, is challenging to handle. An anomalous VA...
INTRODUCTION
Vertebral artery (VA) may run an anomalous course in congenital craniovertebral junction anomalies. Anomalous VA, though rare, is challenging to handle. An anomalous VA can get injured during exposure of craniovertebral junction, even in the experienced hands.
OBJECTIVE
The objective of this article was to describe the technique of repairing the VA in case of its damage during exposure in the craniovertebral junction (atlantoaxial dislocation [AAD] with basilar invagination [BI]).
PROCEDURE
The authors describe a case of VA artery injury in a case of severe BI & AAD, which was anomalous and coursing over the joints. Following the repair of injured VA, we proceeded with the surgery (distraction, compression, extension, and reduction [DCER]).
CONCLUSION
To avoid injury, it is important to always perform a CT 3-D angiogram, perform meticulous dissection under the microscope while exposing the joints, use variable impedance bipolar to control venous bleeding and always expose the side with non-dominant VA first.
Topics: Atlanto-Axial Joint; Cervical Vertebrae; Humans; Joint Dislocations; Platybasia; Spinal Fusion; Vertebral Artery
PubMed: 33904442
DOI: 10.4103/0028-3886.314543 -
Journal of Neurological Surgery. Part... Feb 2021The video demonstrates the steps for an endoscopic transnasal approach for resection of the odontoid causing platybasia with basilar invasion. The video reviews...
The video demonstrates the steps for an endoscopic transnasal approach for resection of the odontoid causing platybasia with basilar invasion. The video reviews the clinical presentation, preoperative workup and imaging, patient positioning, technical nuances of the procedure, reconstruction, and clinical outcomes including postoperative imaging. The surgery was performed by a skull base team including otolaryngologists and neurological surgeons at a large regional tertiary care facility. A 59-year-old female with the Chiari I malformation with history of multiple revision cervical spinal surgeries presents with neck pain. Preoperative imaging showed a hypoplastic clivus and platybasia with basilar invasion. The main outcome measures consist of safely removing the odontoid with appropriate closure, reversal of the patient symptoms, and prevention of both operative complications and ventral compression of the brainstem. The patient's neck pain improved. There were no intraoperative or postoperative complications besides anterior rightward nasal septal deviation causing unilateral nasal obstruction. A septoplasty was performed to correct the septal deviation 6 months after the initial procedure. The endoscopic transnasal approach to the resection of odontoid is a safe and effective treatment to address basilar invasion and ventral compression of the brainstem. The link to the video can be found at: https://youtu.be/m_c3-Vn-l80 .
PubMed: 33717801
DOI: 10.1055/s-0040-1705161 -
The Journal of Spinal Cord Medicine Nov 2022Spinal-generated movement disorders are a complex group of medical conditions, frequently misdiagnosed, originating in the spinal cord or from combined peripheral and...
CONTEXT
Spinal-generated movement disorders are a complex group of medical conditions, frequently misdiagnosed, originating in the spinal cord or from combined peripheral and central nervous system involvement. In this case report, we describe a novel form of position-dependent dyskinesia due to severe craniocervical malformation.
FINDINGS
An 83-year-old woman with basilar invagination at the C2 vertebra above the line of Chamberlain, occipitocervical lordosis, platybasia with a short clivus, ankylosis of the C1-C2 complex and fusion of the C1 arch developed an unusual pattern of position-dependent left arm dyskinesia triggered by bending her neck forward with simultaneous contact of the flexed elbow with a flat surface. Symptoms did not improve with anticonvulsants and she progressed and died suddenly.
CONCLUSION/CLINICAL RELEVANCE
A newly described form of position-dependent arm dyskinesia can be associated with severe craniocervical malformation.
Topics: Humans; Female; Aged, 80 and over; Arm; Spinal Fusion; Spinal Cord Injuries; Platybasia; Dyskinesias
PubMed: 33705252
DOI: 10.1080/10790268.2021.1878341 -
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 -
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