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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 -
World Neurosurgery 2011Ventral decompressive surgery of the craniocervical junction is performed to manage a variety of conditions, including basilar invagination, which can be associated with...
OBJECTIVE
Ventral decompressive surgery of the craniocervical junction is performed to manage a variety of conditions, including basilar invagination, which can be associated with platybasia. We have noted that the anatomic changes of platybasia could affect the height of the odontoid over a line drawn along the nasal cavity floor, the palatine line (PL). This anatomic change may influence the use of nasal endoscopic surgery for patients with platybasia who also have basilar invagination. We investigated whether the height of the craniocervical junction is elevated over the PL in patients with and without platybasia.
METHODS
We conducted a retrospective review of consecutive craniovertebral junction surgical cases during a 14-month period. During that time we treated 12 patients, including 4 with platybasia and 8 without. The average age was 50 years (range, 18-64 years). Preoperative and postoperative radiographic images were evaluated and charts reviewed.
RESULTS
The mean height of the odontoid over the PL without platybasia was 3.5 mm (range, 0-19.0 mm). In those with platybasia, it was 15.5 mm (range, 7-26.0 mm; P=.021). There was a statistically significant increase in the height of the clival tip and C1 ring in patient with platybasia as well.
CONCLUSIONS
Platybasia is associated with an increase in the odontoid and craniocervical junction over the PL. This increase in height has implications for endoscopic approach selection in patients with platybasia. Platybasia patients with basilar invagination may be better suited to a transnasal approach.
Topics: Adolescent; Adult; Atlanto-Axial Joint; Atlanto-Occipital Joint; Cervical Vertebrae; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Nasal Cavity; Neurosurgical Procedures; Odontoid Process; Palate, Hard; Platybasia; Retrospective Studies; Spinal Cord Compression; Tomography, X-Ray Computed; Young Adult
PubMed: 21839972
DOI: 10.1016/j.wneu.2011.02.018 -
Current Osteoporosis Reports Aug 2016Notch plays an important function in skeletal homeostasis, osteoblastogenesis, and osteoclastogenesis. Hajdu-Cheney syndrome (HCS) is a rare disease associated with... (Review)
Review
Notch plays an important function in skeletal homeostasis, osteoblastogenesis, and osteoclastogenesis. Hajdu-Cheney syndrome (HCS) is a rare disease associated with mutations in NOTCH2 leading to the translation of a truncated NOTCH2 stable protein. As a consequence, a gain-of-NOTCH2 function is manifested. HCS is inherited as an autosomal dominant disease although sporadic cases exist. HCS is characterized by craniofacial developmental defects, including platybasia and wormian bones, osteoporosis with fractures, and acro-osteolysis. Subjects may suffer severe neurological complications, and HCS presents with cardiovascular defects and polycystic kidneys. An experimental mouse model harboring a HCSNotch2 mutation exhibits osteopenia secondary to enhanced bone resorption suggesting this as a possible mechanism for the skeletal disease. If the same mechanisms were operational in humans, anti-resorptive therapy could correct the bone loss, but not necessarily the acro-osteolysis. In conclusion, HCS is a devastating disease associated with a gain-of-NOTCH2 function resulting in diverse clinical manifestations.
Topics: Acro-Osteolysis; Animals; Bone Resorption; Disease Models, Animal; Gain of Function Mutation; Hajdu-Cheney Syndrome; Humans; Mice; Nervous System Diseases; Osteoporosis; Osteoporotic Fractures; Platybasia; Polycystic Kidney Diseases; Receptor, Notch2
PubMed: 27241678
DOI: 10.1007/s11914-016-0311-6 -
Scientific Reports Aug 2023Craniosynostosis is characterized by the premature fusion and ossification of one or more of the sutures of the calvaria, often resulting in abnormal features of the...
Craniosynostosis is characterized by the premature fusion and ossification of one or more of the sutures of the calvaria, often resulting in abnormal features of the face and the skull. In cases in which growth of the brain supersedes available space within the skull, developmental delay or cognitive impairment can occur. A complex interplay of different cell types and multiple signaling pathways are required for correct craniofacial development. In this study, we report on two siblings with craniosynostosis and a homozygous missense pathogenic variant within the IL11RA gene (c.919 T > C; p.W307R). The patients present with craniosynostosis, exophthalmos, delayed tooth eruption, mild platybasia, and a basilar invagination. The p.W307R variant is located within the arginine-tryptophan-zipper within the D3 domain of the IL-11R, a structural element known to be important for the stability of the cytokine receptor. Expression of IL-11R-W307R in cells shows impaired maturation of the IL-11R, no transport to the cell surface and intracellular retention. Accordingly, cells stably expressing IL-11R-W307R do not respond when stimulated with IL-11, arguing for a loss-of-function mutation. In summary, the IL-11R-W307R variant, reported here for the first time to our knowledge, is most likely the causative variant underlying craniosynostosis in these patients.
Topics: Humans; Craniosynostoses; Skull; Head; Brain; Arginine
PubMed: 37596289
DOI: 10.1038/s41598-023-39466-y -
European Neurology 2007Descriptions of the flattening (platybasia) of the skull base and the upward displacement(impression) of the basilar and condylar portions of the occipitalbone by the...
Descriptions of the flattening (platybasia) of the skull base and the upward displacement(impression) of the basilar and condylar portions of the occipitalbone by the upper cervical spine date to the late 18th and early 19th centuries. Anatomical measurements to display these abnormalities were begun in 1865, but the full clinical significance was not appreciated until Homen's work in 1901. Subsequent refinement of radiology facilitated diagnosis and the later advent of surgical treatment.
Topics: History, 18th Century; History, 19th Century; History, 20th Century; Humans; Middle Aged; Neurology; Odontoid Process; Platybasia; Skull
PubMed: 17483591
DOI: 10.1159/000102172 -
Journal of Clinical Neurology (Seoul,... Mar 2022
PubMed: 35274843
DOI: 10.3988/jcn.2022.18.2.241 -
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 -
Radiologia Brasileira 2020The present study aims to perform a reproducibility study of the clivus-canal angle (CCA), Welcker's basal angle (WBA), and the distance from the odontoid process to...
OBJECTIVE
The present study aims to perform a reproducibility study of the clivus-canal angle (CCA), Welcker's basal angle (WBA), and the distance from the odontoid process to Chamberlain's line (DOCL) on magnetic resonance imaging (MRI).
MATERIALS AND METHODS
Two medical students and two radiologists respectively evaluated 100 and 50 consecutive MRI scans of adult skulls, selected randomly. Each examiner, working independently and blinded to the previous results, performed readings for each patient on two different occasions. Measurements were performed in T1-weighted sequences acquired in the midsagittal plane. The levels of intraobserver reproducibility and interobserver agreement were evaluated by calculating the intraclass correlation coefficients (ICCs) and the corresponding 95% confidence intervals.
RESULTS
The mean values obtained by the examiners were 150º for the CCA, 130º for the WBA, and 2.5 mm for the DOCL. The ICC for interobserver agreement was 0.980, 0.935, and 0.967, for the CCA, WBA, and DOCL, respectively, for the students, compared with 0.977, 0.941, and 0.982, respectively, for the radiologists, and 0.980, 0.992, and 0.990, respectively, for all of the examiners together. In the analysis of intraobserver agreement, the ICC ranged from 0.929 to 0.959 for the CCA, from 0.918 to 0.964 for the WBA, and from 0.918 to 0.981 for the DOCL.
CONCLUSION
The measurement of the CCA, WBA, and DOCL appears to show excellent intraobserver reproducibility and interobserver agreement on MRI.
PubMed: 33071375
DOI: 10.1590/0100-3984.2019.0068 -
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