Neurological and spinal manifestations of the Ehlers–Danlos syndromes

  title={Neurological and spinal manifestations of the Ehlers–Danlos syndromes},
  author={Fraser C. Henderson and Claudiu Austin and Edward C. Benzel and Paolo A. Bolognese and Richard G. Ellenbogen and Clair A Francomano and Candace Ireton and Petra M Klinge and Myles Koby and Donlin M. Long and Sunil Patel and Eric L. Singman and Nicol C. Voermans},
  journal={American Journal of Medical Genetics Part C: Seminars in Medical Genetics},
  pages={195 - 211}
The Ehlers–Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin extensibility, and tissue fragility. This communication briefly reports upon the neurological manifestations that arise including the weakness of the ligaments of the craniocervical junction and spine, early disc degeneration, and the weakness of the epineurium and perineurium surrounding peripheral nerves. Entrapment, deformation, and biophysical… 

Spinal manifestations of Ehlers-Danlos syndrome: a scoping review.

The demographics, etiology, pathophysiology, clinical features, management strategies, and directions for further research for each of the spinal manifestations of Ehlers-Danlos syndrome are discussed.

Ehlers Danlos Syndrome and Polymicrogyria : An Uncommon Association

A 20-year-old man with the familial history of vascular type of Ehlers Danlos syndrome (EDS) was admitted to the medical unit at the age of 19 years for generalized tonicseizure lasting about 3 minutes starting with staring and altered consciousness and brain magnetic resonance imaging showed bilateral fronto-parietal polymicrogyria.

Application of immunotherapy for neurological manifestations in hypermobile Ehlers–Danlos syndrome

Ehlers–Danlos syndrome (EDS) is a heterogeneous heritable connective tissue disorder with various neurological manifestations, including chronic pain. The neurological manifestations in EDS are often

Review of neurological aspects in a 3-month-old boy with Ehlers-Danlossyndrome (EDS) – case report

The article presents the case of a 3-month-old boy with a classic type of the syndrome with tonic-clonic seizures, apnoea, fever of unknown cause, delayed psychomotor development with hypotonia, gastroesophageal reflux, fragility of blood vessels and easy bruising.

Spinal manifestations in 12 patients with musculocontractural Ehlers‐Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS‐CHST14)

The present findings suggest the critical role of dermatan sulfate in the development and maintenance of the spine and patients with mcEDS‐CHST14 are susceptible to develop scoliosis, thoracolumbar kyphosis, and cervical kyPHosis; and are recommended to have regular surveillance including total spine radiology.

Respiratory manifestations in the Ehlers–Danlos syndromes

There is a need for careful phenotyping using standardized clinical tools and patient‐reported outcomes and continuing collaboration with aerodigestive specialists including otolaryngologists and gastroenterologists for interpretation and long‐term management of respiratory symptoms.

Hypermobile Ehlers‐Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes

In this review, the current molecular, genetic, epidemiologic, and pathogenetic findings related to EDS are summarized with a focus on the hypermobile type.

Hypermobility, the Ehlers-Danlos syndromes and chronic pain.

Chronic pain in JHS and EDS patients often is inadequately controlled by traditional analgesics and physical therapy, and future studies addressing the nature and mediators of chronic pain are needed in order to potentially identify novel targets for therapeutic intervention and optimise treatment.

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.

Many phenotypic features show overlap between the different subtypes of heritable connective tissue disorders, which makes the clinical diagnosis rather difficult and highlights the importance of molecular diagnostic confirmation.



Neurological manifestations of Ehlers-Danlos syndrome(s): A review

A comprehensive overview of neurological findings of EDS conditions is presented, including pain, fatigue, headache, stroke and cerebrovascular disease, brain and spine structural anomalies, epilepsy, muscular findings, neuropathy and developmental features.

Connective tissue, Ehlers–Danlos syndrome(s), and head and cervical pain

Assessment and management procedures are discussed in order to put some basis for ameliorating the actual patients' needs and nurturing future research.

Recurrent neuropathy associated with Ehlers–Danlos syndrome

A 30-year-old female with the hypermobility type of EDS presented with acute onset of paresis and sensory disturbances of her left leg, and subsequently experienced an axillary neuropathy, brachial plexopathy and sciatic neuropathy.

Neurological presentation of Ehlers–Danlos syndrome type IV in a family with parental mosaicism

A glycine substitution, p.G883V, within the triple helix of the α1(III) chain, was found in the index patient and in the mother, and it is confirmed that in some families mosaicism can be identified as the source of the mutation.

Dural ectasia and the Marfan syndrome.

  • W. E. Stern
  • Medicine, Psychology
    Journal of neurosurgery
  • 1988
This study of a symptomatic patient defined with reasonable clarity the abnormal anatomy, and some neurological symptom relief was achieved by attempting to alter the CSF dynamics.

The neuromuscular differential diagnosis of joint hypermobility

The aims of this review are to assist clinical geneticists and other clinicians with recognition of these disorders and to illustrate molecular mechanisms these groups of disorders have in common.

Tethered cord syndrome in adults.

Surgical outcome was gratifying in relation to pain and motor weakness but disappointing in the resolution of bowel and bladder dysfunction, and early diagnosis and adequate release of the tethered conus are the keys to successful management.

Pain in ehlers-danlos syndrome is common, severe, and associated with functional impairment.

Headache in Ehlers—Danlos Syndrome

  • D. Jacome
  • Medicine, Psychology
    Cephalalgia : an international journal of headache
  • 1999
Chronic recurrent headaches may constitute the neurologic presentation of EDS in the absence of structural, congenital, or acquired CNS lesions that correlate with their symptoms.

Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and chiari malformation type I in patients with hereditary disorders of connective tissue.

Morphometric evidence in this cohort suggests that hypermobility of the occipitoatlantal and atlantoaxial joints contributes to retroodontoid pannus formation and symptoms referable to basilar impression, and establishes an association between two presumably unrelated mesodermal disorders.