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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 -
Cureus Mar 2024A Chiari I malformation is a frequently encountered anomaly of the posterior fossa, occurring in a notable percentage of the population. It often coexists with various...
Revealing an Uncommon Presentation of Chiari I Malformation With Diverse Craniovertebral Anomalies in the Absence of Syringomyelia and Atlanto-Occipital Subluxation: A Case Report.
A Chiari I malformation is a frequently encountered anomaly of the posterior fossa, occurring in a notable percentage of the population. It often coexists with various other craniovertebral junction abnormalities, albeit less frequently with Klippel-Feil syndrome. Interestingly, the majority of individuals with Chiari I malformation do not exhibit any symptoms. We present a rare case of a 25-year-old male with chronic neck and occipital pain, along with progressive weakness and sensory disturbances in all four limbs, urinary urgency, and elevated left shoulder. Examination unveiled spasticity, weakness, and brisk reflexes. On extensive radiological evaluation (X-ray, CT, and MRI), findings revealed various anomalies in the craniovertebral junction, including complete atlanto-occipital assimilation, basilar invagination, and platybasia. Furthermore, cervical segmentation abnormalities indicative of Klippel-Feil syndrome were observed, along with Sprengel's deformity. MRI confirmed Chiari I malformation with tonsillar herniation and myelomalacia, as well as compression at the cervico-medullary junction. This patient underwent a surgical procedure that included transoral odontoidectomy combined with occipito-cervical fixation, after which a good clinical response was observed. It emphasizes the necessity of radiological imaging for the diagnosis of Chiari and other associated abnormalities in the craniovertebral junction.
PubMed: 38559543
DOI: 10.7759/cureus.55332 -
Orthodontics & Craniofacial Research Apr 2024Cranio-cervical anomalies are significant complications of osteogenesis imperfecta (OI), a rare bone fragility disorder that is usually caused by mutations in collagen...
INTRODUCTION
Cranio-cervical anomalies are significant complications of osteogenesis imperfecta (OI), a rare bone fragility disorder that is usually caused by mutations in collagen type I encoding genes.
OBJECTIVE
To assess cranio-cervical anomalies and associated clinical findings in patients with moderate-to-severe OI using 3D cone beam computed tomography (CBCT) scans.
METHODS
Cross-sectional analysis of CBCT scans in 52 individuals with OI (age 10-37 years; 32 females) and 40 healthy controls (age 10-32 years; 26 females). Individuals with a diagnosis of OI type III (severe, n = 11), type IV (moderate, n = 33) and non-collagen OI (n = 8) were recruited through the Brittle Bone Disorders Consortium. Controls were recruited through the orthodontic clinic of the University of Missouri-Kansas City (UMKC).
RESULTS
OI and control groups were similar in mean age (OI: 18.4 [SD: 7.2] years, controls: 18.1 [SD: 6.3] years). The cranial base angle was increased in the OI group (OI: mean 148.6° [SD: 19.3], controls: mean 130.4° [SD: 5.7], P = .001), indicating a flatter cranial base. Protrusion of the odontoid process into the foramen magnum (n = 7, 14%) and abnormally located odontoid process (n = 19, 37%) were observed in the OI group but not in controls. Low stature, expressed as height z-score (P = .01), presence of DI (P = .04) and being male (P = .04) were strong predictors of platybasia, whereas height z-score (P = .049) alone was found as positive predictor for basilar impression as per the Chamberlain measurement.
CONCLUSION
The severity of the phenotype in OI, as expressed by the height z-score, correlates with the severity of cranial base anomalies such as platybasia and basilar impression in moderate-to-severe OI. Screening for cranial base anomalies is advisable in individuals with moderate-to-severe OI, with special regards to the individuals with a shorter stature and DI.
Topics: Female; Humans; Male; Adolescent; Child; Young Adult; Adult; Osteogenesis Imperfecta; Platybasia; Cross-Sectional Studies; Genotype; Phenotype; Mutation; Collagen Type I
PubMed: 37642979
DOI: 10.1111/ocr.12707 -
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 -
World Neurosurgery: X Oct 2023Chiari malformation type 1 (CM-1) is characterized by cerebellar tonsil herniation through the foramen magnum and can be associated with additional craniovertebral...
BACKGROUND
Chiari malformation type 1 (CM-1) is characterized by cerebellar tonsil herniation through the foramen magnum and can be associated with additional craniovertebral junction anomalies (CVJA). The pathophysiology and treatment for CM-1 with CVJA (CM-CVJA) is debated.
OBJECTIVE
To evaluate the trends and outcomes of surgical interventions for patients with CM-CVJA.
METHODS
A systematic review of the literature was performed to obtain articles describing surgical interventions for patients with CM-CVJA. Articles included were case series describing surgical approach; reviews were excluded. Variables evaluated included patient characteristics, approach, and postoperative outcomes.
RESULTS
The initial query yielded 403 articles. Twelve articles, published between 1998-2020, met inclusion criteria. From these included articles, 449 patients underwent surgical interventions for CM-CVJA. The most common CVJAs included basilar invagination (BI) (338, 75.3%), atlantoaxial dislocation (68, 15.1%) odontoid process retroflexion (43, 9.6%), and medullary kink (36, 8.0%). Operations described included posterior fossa decompression (PFD), transoral (TO) decompression, and posterior arthrodesis with either occipitocervical fusion (OCF) or atlantoaxial fusion. Early studies described good results using combined ventral and posterior decompression. More recent articles described positive outcomes with PFD or posterior arthrodesis in combination or alone. Treatment failure was described in patients with PFD alone that later required posterior arthrodesis. Additionally, reports of treatment success with posterior arthrodesis without PFD was seen.
CONCLUSION
Patients with CM-CVJA appear to benefit from posterior arthrodesis with or without decompressive procedures. Further definition of the pathophysiology of craniocervical anomalies is warranted to identify patient selection criteria and ideal level of fixation.
PubMed: 37456684
DOI: 10.1016/j.wnsx.2023.100221 -
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 -
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 -
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 -
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 -
Neurology India 2022
Topics: Atlanto-Axial Joint; Humans; Platybasia
PubMed: 36076712
DOI: 10.4103/0028-3886.355162