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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 -
Arquivos de Neuro-psiquiatria May 2016We proposed a 3D model to evaluate the role of platybasia and clivus length in the development of Chiari I (CI). Using a computer aided design software, two DICOM files...
We proposed a 3D model to evaluate the role of platybasia and clivus length in the development of Chiari I (CI). Using a computer aided design software, two DICOM files of a normal CT scan and MR were used to simulate different clivus lengths (CL) and also different basal angles (BA). The final posterior fossa volume (PFV) was obtained for each variation and the percentage of the volumetric change was acquired with the same method. The initial normal values of CL and BA were 35.65 mm and 112.66º respectively, with a total PFV of 209 ml. Ranging the CL from 34.65 to 29.65 - 24.65 - 19.65, there was a PFV decrease of 0.47% - 1.12% - 1.69%, respectively. Ranging the BA from 122.66º to 127.66º - 142.66º, the PFV decreased 0.69% - 3.23%, respectively. Our model highlights the importance of the basal angle and clivus length to the development of CI.
Topics: Arnold-Chiari Malformation; Computer Simulation; Cranial Fossa, Posterior; Humans; Imaging, Three-Dimensional; Models, Anatomic; Platybasia
PubMed: 27191237
DOI: 10.1590/0004-282X20160041 -
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 -
BMC Musculoskeletal Disorders Jan 2016Neck pain is one of the most common musculoskeletal disorders in clinical practice. However neck pain may mask more serious pathology. Although uncommon in most...
BACKGROUND
Neck pain is one of the most common musculoskeletal disorders in clinical practice. However neck pain may mask more serious pathology. Although uncommon in most musculoskeletal physiotherapy practices, it is possible to encounter rare and extremely life-threatening conditions, such as craniovertebral congenital anomalies. Basilar invagination is an abnormality where the odontoid peg projects above the foramen magnum and is the commonest malformation of the craniocervical junction. Its prevalence in the general population is estimated to be 1%. Furthermore, it is a well-recognised cause of neck pain insomuch as it can be easily overlooked and mistaken for a musculoskeletal disorder. Diagnosis is based on the patient's symptoms in conjunction with magnetic resonance imaging (MRI). If life-threatening symptoms, or pressure on the spinal cord are present, the recommended treatment is typically surgical correction.
CASE PRESENTATION
This case report describes the history, relevant examination findings, and clinical reasoning used for a 37 year old male who had the chief complaint of neck pain and occipital headache. After the history and the physical examination, there were several key indicators in the patient's presentation that appeared to warrant further investigation with diagnostic imaging: (1) the drop attack after a triggering event (i.e., heading a football), (2) several episodes of facial numbness immediately and shortly after the trauma, (3) the poorly defined muscle upper extremity muscle weakness, and (4) the modification of symptoms during the modified Sharp-Purser test. Therefore, the decision was made to contact the referring neurosurgeon to discuss the patient's history and his physical examination. The physician requested immediate cervical spine MRI, which revealed a "basilar impression".
CONCLUSION
This case report highlights the need for more research into a number of issues surrounding the prevalence, diagnosis, and the central role of primary care clinicians such as physiotherapists. Furthermore it underlines the importance of including Basilar invagination in the differential diagnosis. Physiotherapists working within a direct access environment must take a comprehensive history and be capable of screening for non-musculoskeletal medical conditions (on a systems, not diagnosis level) in order to avoid providing potentially harmful musculoskeletal treatments (e.g., cervical mobilization or manipulation, stretching, exercise) to patients with sinister medical pathologies, not benign musculoskeletal disorders.
Topics: Adult; Diagnosis, Differential; Humans; Male; Neck Pain; Platybasia; Radiography
PubMed: 26754441
DOI: 10.1186/s12891-015-0847-0 -
Journal of Korean Neurosurgical Society Nov 2015In this study, we aimed to investigate the underlying ethiological factors in chiari malformation (CM) type-I (CMI) via performing volumetric and morphometric...
OBJECTIVE
In this study, we aimed to investigate the underlying ethiological factors in chiari malformation (CM) type-I (CMI) via performing volumetric and morphometric length-angle measurements.
METHODS
A total of 66 individuals [33 patients (20-65 years) with CMI and 33 control subjects] were included in this study. In sagittal MR images, tonsillar herniation length and concurrent anomalies were evaluated. Supratentorial, infratentorial, and total intracranial volumes were measured using Cavalieri method. Various cranial distances and angles were used to evaluate the platybasia and posterior cranial fossa (PCF) development.
RESULTS
Tonsillar herniation length was measured 9.09±3.39 mm below foramen magnum in CM group. Tonsillar herniation/concurrent syringomyelia, concavity/defect of clivus, herniation of bulbus and fourth ventricle, basilar invagination and craniovertebral junction abnormality rates were 30.3, 27, 18, 2, 3, and 3 percent, respectively. Absence of cisterna magna was encountered in 87.9% of the patients. Total, IT and ST volumes and distance between Chamberlain line and tip of dens axis, Klaus index, clivus length, distance between internal occipital protuberance and opisthion were significantly decreased in patient group. Also in patient group, it was found that Welcher basal angle/Boogard angle increased and tentorial slope angle decreased.
CONCLUSION
Mean cranial volume and length-angle measurement values significantly decreased and there was a congenital abnormality association in nearly 81.5 percent of the CM cases. As a result, it was concluded that CM ethiology can be attributed to multifactorial causes. Moreover, congenital defects can also give rise to this condition.
PubMed: 26713146
DOI: 10.3340/jkns.2015.58.5.454 -
Zhurnal Voprosy Neirokhirurgii Imeni N.... 2015Pathological processes in the craniovertebral region (clivus, C1 anterior arch, odontoid process and body of the C2 vertebra, i.e. C0-C1-C2 segments) are very difficult...
UNLABELLED
Pathological processes in the craniovertebral region (clivus, C1 anterior arch, odontoid process and body of the C2 vertebra, i.e. C0-C1-C2 segments) are very difficult to diagnose and treat. The craniovertebral junction instability may develop in the case of a significant lesion of C1-C2 segments. Among diseases causing destruction of the clivus structures and C1-C2 vertebrae and compression of the spinal cord, the following ones are most common: chordoma, giant cell tumor, osteoblastoma, rheumatoid lesion, metastases, platybasia, and basilar impression. These diseases can cause the initial instability of the craniovertebral junction and be accompanied by gross neurological disorders, which complicates the diagnosis and surgical treatment of these patients.
MATERIAL AND METHODS
We operated on two patients diagnosed with invagination of the odontoid process of the C2 vertebra. In both cases, one-stage operation was performed that included occipitospondylodesis and endoscopic endonasal removal of the C2 odontoid process.
RESULTS
In the postoperative period, partial regression of the neurological symptoms was observed that included an increase in the strength and range of motions in the arms and distal legs, regressed spasticity in the arms and significantly reduced spasticity in the legs, and a significant improvement in all kinds of sensitivity in the arms, legs, and torso. Postoperative liquorrhea was observed in 1 case (patient 2); re-operation to close a CSF fistula was conducted. Later, no signs of liquorrhea were noted. In both cases, control MRI and spiral CT revealed a postoperative bone defect of the C2 odontoid process and clivus, complete decompression of the medulla oblongata and upper cervical spine segments, and no evidence of spinal canal stenosis; the stabilizing system was competent and properly placed.
CONCLUSION
The endoscopic endonasal approach, compared to the standard transoral approach, has significant advantages in that the soft palate remains intact, the oropharynx area is less damaged, and the hospitalization and rehabilitation duration is reduced. Also, there are no problems and complications such as possible failure of sutures in the oral cavity and a large wound surface in the oropharynx area. The patient can eat on his own immediately after the operation without the use of a stomach tube (it does not cause any inflammatory complications of the oral cavity). However, the surgical technique of the endoscopic endonasal approach to the C1-C2 segment is more complex than that of transoral surgery and requires the surgeon to be skilled and experienced.
Topics: Adult; Arthritis, Rheumatoid; Atlanto-Axial Joint; Axis, Cervical Vertebra; Cervical Atlas; Decompression, Surgical; Endoscopy; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Nose; Odontoid Process; Spinal Cord Compression; Tomography, X-Ray Computed; Treatment Outcome
PubMed: 26528618
DOI: 10.17116/neiro201579582-90 -
Surgical Neurology International 2015Craniometric studies have shown that both Chiari malformation (CM) and basilar invagination (BI) belong to a spectrum of malformations. A more precise method to...
BACKGROUND
Craniometric studies have shown that both Chiari malformation (CM) and basilar invagination (BI) belong to a spectrum of malformations. A more precise method to differentiate between these types of CVJM is desirable. The Chamberlain's line violation (CLV) is the most common method to identify BI. The authors sought to clarify the real importance of CLV in the spectrum of craniovertebral junction malformations (CVJM) and to identify possible pathophysiological relationships.
METHODS
We evaluated the CLV in a sample of CVJM, BI, CM patients and a control group of normal subjects and correlated their data with craniocervical angular craniometry.
RESULTS
A total of 97 subjects were studied: 32 normal subjects, 41 CM patients, 9 basilar invagination type 1 (BI1) patients, and 15 basilar invagination type 2 (BI2) patients. The mean CLV violation in the groups were: The control group, 0.16 ± 0.45 cm; the CM group, 0.32 ± 0.48 cm; the BI1 group, 1.35 ± 0.5 cm; and the BI2 group, 1.98 ± 0.18 cm. There was strong correlation between CLV and Boogard's angle (R = 0.82, P = 0.000) and the clivus canal angle (R = 0.7, P = 0.000).
CONCLUSIONS
CM's CLV is discrete and similar to the normal subjects. BI1 and BI2 presented with at least of 0.95 cm CLV and these violations were strongly correlated with a primary cranial angulation (clivus horizontalization) and an acute clivus canal angle (a secondary craniocervical angle).
PubMed: 26229733
DOI: 10.4103/2152-7806.160322 -
Arquivos de Neuro-psiquiatria Nov 2014
Topics: Headache; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Odontoid Process; Physical Exertion; Platybasia; Tomography, X-Ray Computed; Torticollis
PubMed: 25410463
DOI: 10.1590/0004-282x20140163 -
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 -
Arquivos de Neuro-psiquiatria Sep 2014A retrospective case-control study based on craniometrical evaluation was performed to evaluate the incidence of basilar invagination (BI). Patients with symptomatic...
A retrospective case-control study based on craniometrical evaluation was performed to evaluate the incidence of basilar invagination (BI). Patients with symptomatic tonsillar herniation treated surgically had craniometrical parameters evaluated based on CT scan reconstructions before surgery. BI was diagnosed when the tip of the odontoid trespassed the Chamberlain's line in three different thresholds found in the literature: 2, 5 or 6.6 mm. In the surgical group (SU), the mean distance of the tip of the odontoid process above the Chamberlain's line was 12 mm versus 1.2 mm in the control (CO) group (p<0.0001). The number of patients with BI according to the threshold used (2, 5 or 6.6 mm) in the SU group was respectively 19 (95%), 16 (80%) and 15 (75%) and in the CO group it was 15 (37%), 4 (10%) and 2 (5%).
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Case-Control Studies; Cephalometry; Encephalocele; Female; Humans; Male; Middle Aged; Occipital Bone; Odontoid Process; Platybasia; Reference Values; Retrospective Studies; Skull Base; Tomography, X-Ray Computed; Young Adult
PubMed: 25252235
DOI: 10.1590/0004-282x20140113