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.

scholarly journals Dermal Ultrastructure in Low Beighton Score Members of 17 Families with Hypermobile-Type Ehlers-Danlos Syndrome

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Trinh Hermanns-Lê ◽  
Marie-Annick Reginster ◽  
Claudine Piérard-Franchimont ◽  
Philippe Delvenne ◽  
Gérald E. Piérard ◽  
...  
Keyword(s):  
Clinical Parameter ◽  
Joint Hypermobility ◽  
Elastic Fibers ◽  
Hypermobility Syndrome ◽  
Beighton Score ◽  
Joint Hypermobility Syndrome ◽  
Ehlers Danlos Syndrome ◽  
Transmission Electron ◽  
Asymptomatic Subjects ◽  
Danlos Syndrome

The distinction between the Ehlers-Danlos syndrome hypermobile type (EDSH) and the benign joint hypermobility syndrome (BJHS) is unclear. The aim of the present study was to compare skin ultrastructural abnormalities of EDSH and BJHS among different families. Skin of 23 EDSH, 27 BJHS, and 41 asymptomatic subjects from 17 families was examined using transmission electron microscopy. Similar ultrastructural abnormalities were found irrespective of the Beighton score. Flower-like collagen fibrils represented the key change and elastic fibers were altered as well. Beighton score is a clinical parameter rating joint mobility that appeared unrelated to quantitative and qualitative collagen ultrastructural alterations in the skin. Some EDSH family members fit with BJHS diagnosis. BJHS possibly represents a mild variant of EDSH.

Oro‐dental characteristics in patients with hypermobile Ehlers‐Danlos Syndrome compared to a healthy control group

2019 ◽  
Vol 46 (11) ◽  
pp. 1055-1064 ◽  
Author(s):  
Michelle Bornemann Honoré ◽  
Eva Fejerskov Lauridsen ◽  
Liselotte Sonnesen
Keyword(s):  
Healthy Control Group ◽  
Control Group ◽  
Ehlers Danlos Syndrome ◽  
Healthy Control ◽  
Danlos Syndrome

Myofascial Flap Closure in Treatment for Patients With Craniocervical Instability and Ehlers-Danlos Syndrome

2020 ◽  
Vol 85 (S1) ◽  
pp. S80-S81
Author(s):  
Connie Lu ◽  
Gal Wald ◽  
Andrew A. Marano ◽  
Jeffrey P. Greenfield ◽  
Ali A. Baaj ◽  
...  
Keyword(s):  
Ehlers Danlos Syndrome ◽  
Craniocervical Instability ◽  
Danlos Syndrome ◽  
Flap Closure

scholarly journals Classical Ehlers-Danlos syndrome: clinical, Histological and ultrastructural aspects

2011 ◽  
Vol 86 (4 suppl 1) ◽  
pp. 164-167 ◽  
Author(s):  
Eduardo de Barros Coelho Bicca ◽  
Fabiano Bonow de Almeida ◽  
Giselle Martins Pinto ◽  
Luis Antônio Suíta de Castro ◽  
Hiram Larangeira de Almeida Jr
Keyword(s):  
Electron Microscopy ◽  
Cross Sections ◽  
Collagen Fibers ◽  
Elastic Tissue ◽  
Skin Elasticity ◽  
Ehlers Danlos Syndrome ◽  
Transmission Electron ◽  
Danlos Syndrome ◽  
Unusual Appearance ◽  
Scanning Electron

A 12-year-old boy with difficulty in wound healing and scars of unusual appearance was examined. Thin, shiny and protruding skin, characterizing pseudotumoral lesions, was observed on his knees and elbows. Loose joints and increased skin elasticity were also observed. Light microscopy showed rare collagen bundles and loosely dispersed collagen fibers. Irregularly distributed elastic tissue was observed, and transmission electron microscopy revealed disorganized collagen fibers. In cross sections under high magnifications, fibers of varying diameters could be seen, as well as an irregular fiber outline. Scanning electron microscopy of the dermis showed disorganized collagen fibers, which were rarely arranged in bundles. Isolated and crossed-over fibers were also found

scholarly journals Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients

Genes ◽  
2019 ◽  
Vol 10 (10) ◽  
pp. 762 ◽  
Author(s):  
Chloe Angwin ◽  
Angela F. Brady ◽  
Marina Colombi ◽  
David J. P. Ferguson ◽  
Rebecca Pollitt ◽  
...  
Keyword(s):  
Electron Microscopy ◽  
Transmission Electron Microscopy ◽  
Case Report ◽  
Vascular Complication ◽  
The Other ◽  
Ehlers Danlos Syndrome ◽  
Clinical Criteria ◽  
Transmission Electron ◽  
Intrafamilial Variability ◽  
Danlos Syndrome

Two probands are reported with pathogenic and likely pathogenic COL5A1 variants (frameshift and splice site) in whom no collagen flowers have been identified with transmission electron microscopy (TEM). One proband fulfils the clinical criteria for classical Ehlers-Danlos syndrome (cEDS) while the other does not and presents with a vascular complication. This case report highlights the significant intrafamilial variability within the cEDS phenotype and demonstrates that patients with pathogenic COL5A1 variants can have an absence of collagen flowers on TEM skin biopsy analysis. This has not been previously reported in the literature and is important when evaluating the significance of a TEM result in patients with clinically suspected cEDS and underscores the relevance of molecular analysis.

Ehlers-Danlos Syndrome, Kyphoscoliotic Type (Formerly Type VI) as Differential Diagnosis to Neuromuscular Diseases

2016 ◽  
Vol 47 (S 01) ◽  
Author(s):  
M. Schroth ◽  
C. Reihle ◽  
M. Wachowsky ◽  
L. Travan ◽  
M. Buob ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Neuromuscular Diseases ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Clipping of an anterior spinal artery aneurysm using an endoscopic fluorescence imaging system for craniocervical junction epidural arteriovenous fistula: technical note

2019 ◽  
Vol 31 (2) ◽  
pp. 279-284 ◽  
Author(s):  
Ahmed Mansour ◽  
Toshiki Endo ◽  
Tomoo Inoue ◽  
Kenichi Sato ◽  
Hidenori Endo ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Arteriovenous Fistula ◽  
Fluorescence Imaging ◽  
Imaging System ◽  
Artery Aneurysm ◽  
Craniocervical Junction ◽  
Anterior Spinal Artery ◽  
Posterolateral Approach ◽  
Fluorescence Imaging System ◽  
Ventral Spinal Cord

The authors report the case of a 78-year-old man with a craniocervical junction epidural arteriovenous fistula who presented with subarachnoid hemorrhage from a ruptured anterior spinal artery (ASA) aneurysm. Because endovascular embolization was difficult, a posterolateral approach was chosen and a novel endoscopic fluorescence imaging system was utilized to clip the aneurysm. The fluorescence imaging system provided clear and magnified views of the ventral spinal cord simultaneously with the endoscope-integrated indocyanine green videoangiography, which helped safely obliterate the ASA aneurysm. With the aid of this novel imaging system, surgeons can appreciate and manipulate complex vascular pathologies of the ventral spinal cord through a posterolateral approach, even when the lesion is closely related to the ASA.

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