Morquio’s Syndrome and Craniocervical Instability

2011 ◽  
Vol 47 (3) ◽  
pp. 238-240 ◽  
Author(s):  
John K. Houten ◽  
Merritt D. Kinon ◽  
James T. Goodrich
Keyword(s):  
Craniocervical Instability ◽  
Morquio's Syndrome

Abnormal spinal cord motion at the craniocervical junction in hypermobile Ehlers-Danlos patients

2021 ◽  
pp. 1-7
Author(s):  
Petra M. Klinge ◽  
Abigail McElroy ◽  
John E. Donahue ◽  
Thomas Brinker ◽  
Ziya L. Gokaslan ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Chronic Neck Pain ◽  
Craniocervical Junction ◽  
Head Movements ◽  
Ehlers Danlos Syndrome ◽  
Transmission Electron ◽  
Pathogenic Factors ◽  
Healthy Control ◽  
Craniocervical Instability ◽  
Danlos Syndrome

OBJECTIVE The craniocervical junction (CCJ) is anatomically complex and comprises multiple joints that allow for wide head and neck movements. The thecal sac must adjust to such movements. Accordingly, the thecal sac is not rigidly attached to the bony spinal canal but instead tethered by fibrous suspension ligaments, including myodural bridges (MDBs). The authors hypothesized that pathological spinal cord motion is due to the laxity of such suspension bands in patients with connective tissue disorders, e.g., hypermobile Ehlers-Danlos syndrome (EDS). METHODS The ultrastructure of MDBs that were intraoperatively harvested from patients with Chiari malformation was investigated with transmission electron microscopy, and 8 patients with EDS were compared with 8 patients without EDS. MRI was used to exclude patients with EDS and craniocervical instability (CCI). Real-time ultrasound was used to compare the spinal cord at C1–2 of 20 patients with EDS with those of 18 healthy control participants. RESULTS The ultrastructural damage of the collagen fibrils of the MDBs was distinct in patients with EDS, indicating a pathological mechanical laxity. In patients with EDS, ultrasound revealed increased cardiac pulsatory motion and irregular displacement of the spinal cord during head movements. CONCLUSIONS Laxity of spinal cord suspension ligaments and the associated spinal cord motion disorder are possible pathogenic factors for chronic neck pain and headache in patients with EDS but without radiologically proven CCI.

Craniocervical instability treated by contoured loop fixation

1986 ◽  
Vol 68-B (2) ◽  
pp. 173-177 ◽  
Author(s):  
AO Ransford ◽  
HA Crockard ◽  
JL Pozo ◽  
NP Thomas ◽  
IW Nelson
Keyword(s):  
Craniocervical Instability

scholarly journals Transoral digital reduction of complete anterior odontoid dislocation followed by fiducial-based navigated transcondylar screw fixation: illustrative case

2022 ◽  
Vol 3 (3) ◽  
Keyword(s):  
Spinal Fusion ◽  
Screw Fixation ◽  
Treatment Options ◽  
Pedicle Screws ◽  
Craniocervical Junction ◽  
Atlantoaxial Instability ◽  
Illustrative Case ◽  
Trauma Patients ◽  
Lateral Mass ◽  
Craniocervical Instability

BACKGROUND Posterior atlantoaxial dislocations (i.e., complete anterior odontoid dislocation) without C1 arch fractures are a rare hyperextension injury most often found in high-velocity trauma patients. Treatment options include either closed or open reduction and optional spinal fusion to address atlantoaxial instability due to ligamentous injury. OBSERVATIONS A 60-year-old male was struck while on his bicycle by a truck and sustained an odontoid dislocation without C1 arch fracture. Imaging findings additionally delineated a high suspicion for craniocervical instability. The patient had neurological issues due to both a head injury and ischemia secondary to an injured vertebral artery. He was stabilized and transferred to our facility for definitive neurosurgical care. LESSONS The patient underwent a successful transoral digital closed reduction and posterior occipital spinal fusion via a fiducial-based transcondylar, C1 lateral mass, C2 pedicle, and C3 lateral mass construct. This unique reduction technique has not been recorded in the literature before and avoided potential complications of overdistraction and the need for odontoidectomy. Furthermore, the use of bone fiducials for navigated screw fixation at the craniocervical junction is a novel technique and recommended particularly for placement of technically demanding transcondylar screws and C2 pedicle screws where pars anatomy is potentially unfavorable.

Chiari Malformation with Syringomyelia

2019 ◽  
pp. 57-64
Author(s):  
Yiping Li ◽  
Bermans J. Iskandar
Keyword(s):  
Foramen Magnum ◽  
Chiari I Malformation ◽  
Neurological Deficits ◽  
Csf Leakage ◽  
Craniocervical Instability ◽  
Chiari I ◽  
Spine Mri ◽  
Operative Monitoring ◽  
Associated Abnormalities ◽  
Cerebellar Tonsils

Chiari I malformation (CIM) is defined by pathological herniation of the cerebellar tonsils below the foramen magnum. Operative intervention for CIM is generally undertaken to treat neurological deficits associated with tonsillar herniation or with associated syringomyelia. A complete brain and spine MRI is indicated to rule out associated abnormalities and to identify and the presence and extent of syringomyelia. The type of surgical decompression remains controversial but may include bone-only decompression, bony decompression followed by duraplasty, and bony decompression followed by duraplasty and tonsillar shrinkage. Post-operative monitoring for CSF leakage, inadequate decompression, subtle chronic craniocervical instability, and hydrocephalus is critical.

Morquio's Syndrome - A Case Report -

1989 ◽  
Vol 24 (5) ◽  
pp. 1507
Author(s):  
Kyung Soo Choi ◽  
Eu Sub Choung ◽  
Chang Real Yang
Keyword(s):  
Case Report ◽  
Morquio's Syndrome

Diagnostic test for mucopolysaccharidosis. II. Rapid quantification of glycosaminoglycan in urine samples collected on a paper matrix.

1989 ◽  
Vol 35 (10) ◽  
pp. 2074-2081 ◽  
Author(s):  
C B Whitley ◽  
K A Draper ◽  
C M Dutton ◽  
P A Brown ◽  
S L Severson ◽  
...  
Keyword(s):  
Diagnostic Test ◽  
Newborn Infants ◽  
Normative Values ◽  
Sample Collection ◽  
Sulfated Glycosaminoglycan ◽  
Normal Individuals ◽  
Diagnostic Capability ◽  
Morquio's Syndrome ◽  
Urine Specimens ◽  
Sanfilippo's Syndrome

Abstract The direct 1,9-dimethylmethylene blue (DMB) method for quantifying sulfated glycosaminoglycan (GAG) in urine (Clin Chem 1989; 35:374-9) has been adapted to a convenient means for sample collection and transport as a test to identify individuals with mucopolysaccharidosis (MPS) storage diseases. Results correlated moderately well (r = 0.85) with those of a commonly used, but more laborious, quantitative method. In studying factors to maximize differentiation of pathological from normal values, we found that GAG excretion (expressed as milligrams GAG per gram creatinine) fits a logarithmic function with respect to age and varies markedly below age five years. This must be considered in developing normative values and forming diagnoses. Of 112 separate urine specimens obtained from 41 MPS patients representing the major MPS diseases, glycosaminoglycan excretion by all exceeded that for age-matched normal individuals. The convenience of this method allowed us to establish the first normative values for three-week-old infants (n = 435) found to have a mean glycosaminoglycan excretion of 179 (SD 86.3) mg of GAG per gram of creatinine. This method improves the diagnostic capability for those MPS diseases that have been particularly difficult to identify (Sanfilippo's syndrome and Morquio's syndrome), and may also provide a test for other disorders with previously unrecognized abnormal excretion of glycosaminoglycan (e.g., mucolipidosis and acromesomelic dysplasia). Most importantly, this MPS diagnostic test is unique in its suitability for mass screening of newborn infants.

Basilar invagination: craniocervical instability treated with cervical traction and occipitocervical fixation

2007 ◽  
Vol 7 (4) ◽  
pp. 444-449 ◽  
Author(s):  
Ricardo V. Botelho ◽  
Eliseu B. Neto ◽  
Gustavo C. Patriota ◽  
Jefferson W. Daniel ◽  
Paulo A. S. Dumont ◽  
...  
Keyword(s):  
Craniovertebral Junction ◽  
Basilar Invagination ◽  
Vertical Position ◽  
Occipitocervical Fixation ◽  
Cervical Traction ◽  
Craniocervical Instability

✓ The upward odontoid displacement observed in basilar invagination (BI) is generally associated with a horizontal clivus and craniocervical kyphosis, conditions that exert ventral compression at the spinomedullary junction. Ventral brainstem decompression by reduction or elimination of the odontoid invagination is part of the desired treatment. The authors describe a case of BI in an adult, who was effectively treated with the easy and safe reduction of odontoid invagination via cervical traction. Normalization of kyphosis at the craniovertebral junction and the vertical position of both a previously horizontal clivus and the cerebellar tentorium demonstrated that these conditions were not part of the original malformation but instead were caused by a reducible craniovertebral instability.

scholarly journals Occipitocervical Fixation: General Considerations and Surgical Technique

2019 ◽  
Vol 10 (5) ◽  
pp. 647-656 ◽  
Author(s):  
Andrei Fernandes Joaquim ◽  
Joseph A. Osorio ◽  
K. Daniel Riew
Keyword(s):  
Surgical Technique ◽  
Vascular Complications ◽  
Craniocervical Junction ◽  
Atlantoaxial Instability ◽  
Occipitocervical Fixation ◽  
Fixation Techniques ◽  
Narrative Literature ◽  
Craniocervical Instability ◽  
Narrative Literature Review ◽  
Improve Patient

Study Design: Narrative literature review. Objective: To review and present details on the occipitocervical fixation (OCF) technique as well as considerations for planning the procedure. Methods: We present the surgical technique of OCF in a step-by-step didactic and practical manner with surgical tips and tricks, including C1 and C2 screw fixation techniques. Additionally, we discuss complications, the extension of fusion, types of OCF, and how to avoid common side effects associated with OCF. Results: The complex and mobile anatomy of the craniocervical junction, when requiring fixation and fusion, warrants rigid instrumentation that can be achieve using a modern screw-plate-rod construct. Indications for OCF are craniocervical instability, and atlantoaxial instability when selective atlantoaxial fusion is not feasible. OCF generally involves occiput-C2 fusion. C1 fixation is generally unnecessary, since it increases the surgical time and is associated with the risk of vascular complications. Selective occiput-C2 fusion is recommended when there is no need for including the cervical subaxial region (eg, when stenosis or fractures coexist in the subaxial spine), and good fixation is achieved at C2. Most instrumentation systems now have occipital plates that are not pre-integrated to rods, making fixation much simpler. Surgical steps, from position to wound closure, are presented in detail, with pearls for practice and discussion of cervical alignment. Conclusions: OCF is a challenging procedure, with potential risk of severe adverse effects. Understanding the surgical indications, as well as the nuances of the surgical technique, is required to improve patient outcomes and avoid complications.

A Reliable Spot Test for Mucopolysaccharidoses

1971 ◽  
Vol 17 (9) ◽  
pp. 886-890 ◽  
Author(s):  
E R Berman ◽  
J Vered ◽  
G Bach
Keyword(s):  
Clinical Findings ◽  
Spot Test ◽  
Group Of Seven ◽  
Corneal Opacities ◽  
Quantitative Analyses ◽  
Spot Tests ◽  
Morquio's Syndrome ◽  
Mps I ◽  
Normal Controls

Abstract A new spot test for detecting excessive excretion of mucopolysaccharides in urine has been used with a group of 17 patients. Reliability of the test was evaluated by correlating clinical findings with qualitative and quantitative analyses of urinary mucopolysaccharides. Normal controls, with 3.8 to 10.0 mg of uronic acid in this form per liter of urine, gave negative spot tests; all cases of clinically diagnosed mucopolysaccharidoses (MPS) I, II, and III (Hurler’s, Hunter’s, and Sanfilippo’s syndromes, respectively) gave strongly positive ones. Two patients (female siblings) with Morquio’s syndrome (MPS IV) also gave positive spot tests, which were somewhat less intense than those given by patients with MPS I, II, or III. The test for Morquio’s syndrome, positive with fresh urine, was essentially negative with samples at -26°C for three months or longer. A group of seven patients having various degrees of skeletal deformities, mental retardation, dwarfism, or corneal opacities, but not fitting the presently accepted classification of mucopolysaccharidoses, gave negative spot tests, and chemical analyses of their urinary mucopolysaccharides showed normal patterns of excretion.

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