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Stroke and Transient Ischemic Attacks of the Brain and Eye
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Dissection is often spontaneous, or appears to be spontaneous. Genetic risk factors include connective tissue diseases such as Ehlers–Danlos syndrome, Marfan's syndrome, Loeys–Dietz syndrome, and fibromuscular dysplasia (FMD). Environmental risk factors include recent cervical trauma (which can be quite mild, such as coughing or sneezing), recent infection (particularly intracranial or systemic infections), hypertension, migraine (especially without aura), low body mass index, and low cholesterol (Table 12.22).7
Systemic causes of CSF rhinorrhea
Published in Jyotirmay S. Hegde, Hemanth Vamanshankar, CSF Rhinorrhea, 2020
Hemanth Vamanshankar, Jyotirmay S Hegde
Two subtypes have been described:5–7Ehlers-Danlos syndrome classic type: Characterized by joint hypermobility and extensive skin involvement: skin hyperextensibility, abnormal wound healing, and scar formation. Fragility of other connective tissues is also noted, causing cervical insufficiency in pregnancy, recurrent hernias, and rectal prolapse. Cauliflower deformity of skin collagen fibrils on histology is characteristic of the classic type of EDS. Diagnosis is usually clinical, but almost 50% have mutations of the COL5A1 or COL5A2 gene. However, a negative test cannot rule out its absence.Ehlers-Danlos syndrome hypermobility type: This is the more common subtype of EDS. It presents with chronic painful instability of joints associated with joint dislocations. This further leads to degenerative joint disease in young adults. Skin involvement, however, is mild: soft skin that bruises easily. The genetic basis of this subtype is unknown. A positive family history may sometimes be elicited in these patients. Diagnosis is clinical.
Revision suboccipital decompression for complex Chiari malformation
Published in Gregory D. Schroeder, Ali A. Baaj, Alexander R. Vaccaro, Revision Spine Surgery, 2019
Jacob L. Goldberg, Ibrahim Hussain, Ali A. Baaj, Jeffrey P. Greenfield
There are two critical relative contraindications for repeat suboccipital decompression in patients with Chiari 1 or Chiari 1.5, despite persistent symptoms following an initial surgery. First, patients with continued neck and occipital pain, particularly when upright or with activity, may be experiencing symptoms of CCI rather than static posterior fossa compression. For these patients, further decompression may exacerbate instability, and surgeons must be vigilant for patients with concomitant connective tissue disorders such as Ehlers–Danlos syndrome (EDS). Flexion-extension x-rays may demonstrate listhesis that confirms the diagnosis; however, even with negative flexion/extension plain films, a hard-cervical collar trial for 2–6 weeks may be warranted. These trials in patients with craniocervical instability (CCI) due to EDS may result in obvious self-reported improvements in pain and symptoms, providing additional support for a diagnosis of CCI. In these patients, occipitocervical fusion may be discussed as a more appropriate solution than revision decompression surgery.
Occupational Therapy Interventions for Clients with Ehlers-Danlos Syndrome (EDS) in the Presence of Postural Orthostatic Tachycardia Syndrome (POTS)
Published in Occupational Therapy In Health Care, 2022
David Levine, Brittany Work, Susan McDonald, Nicole Harty, Carolee Mabe, Alison Powell, Graceline Sanford
Ehlers-Danlos syndromes (EDS) are a group of genetic, connective tissue disorders that are heritable and can result in abnormal collagen synthesis, which may lead to skin hyperextensibility and tissue fragility, depending on the type (Malfait et al., 2017). Generalized joint hypermobility is commonly seen in individuals with some types of EDS (Gazit et al., 2016). Individuals with hypermobile EDS (hEDS), the most common type, can experience musculoskeletal problems such as joint dislocations, joint subluxations, and associated soft tissue injuries (Rombaut et al., 2010). Similar to EDS, the hypermobility spectrum disorders (HSD) are a group of conditions involving joint hypermobility and other articular and extra-articular symptoms (Malfait et al., 2017). HSD tends to be diagnosed after other conditions, such as hEDS, have been ruled out (Malfait et al., 2017). Common features seen in individuals with hypermobility conditions include chronic pain, micro and macrotrauma to joints and soft tissue, disturbed proprioception, bladder and pelvic dysfunction, and gastrointestinal disorders (Castori & Hakim, 2017).
Vascular manifestations and kyphoscoliosis due to a novel mutation of PLOD1 gene
Published in Acta Cardiologica, 2021
Piotr Zieminski, Jessie Risse, Anne Legrand, Virginie Dufrost, Laurence Bal, Nicla Settembre, Sergueï Malikov, Xavier Jeunemaitre, Denis Wahl, Stéphane Zuily
Ehlers-Danlos syndromes (EDS) are a group of rare genetic disease, composed of 13 subtypes, which affect the connective tissue, predisposing to various severe complications including the cardiovascular system. Cardiovascular complications are potentially life-threatening and well described within the vascular subtype of EDS (vEDS) related to COL3A1 gene mutation. It includes spontaneous vascular dissections and aneurysms or dysplastic aspects of large and medium-sized vessels (e.g. aorta, coronary and carotid arteries, or any peripheral artery), with an early age at onset. Mitral valve prolapse is also commonly seen. Therefore, vEDS patients should be screened for aortic root aneurysm, valvular involvement, dysplastic arteries or aneurysms/dissections of medium-sized arteries. Management of arterial hypertension is mandatory, as well as avoiding invasive procedures, given the underlying tissue fragility and the risk of artery dissections as well as organs ruptures. Scarce data have shown recently that patients with other subtypes of EDS could have an increased risk of vascular complications. Our case highlights the vascular risk in kEDS patients therefore supporting similar cardiovascular management as in vEDS patients.
Predictors of pain and mobility disability in the hypermobile Ehlers-Danlos syndrome
Published in Disability and Rehabilitation, 2020
Larissa Kalisch, Claude Hamonet, Caroline Bourdon, Lucile Montalescot, Cécile de Cazotte, Carolina Baeza-Velasco
The Ehlers-Danlos Syndromes (EDS) are a group of hereditary disorders of the connective tissue clinically and genetically heterogeneous. They share characteristics of fragile tissues, general joint hypermobility, abnormal skin texture as well as dysfunctional vessels and internal organs [1]. The 1988 “Berlin Nosology” recognized eleven EDS subtypes [2]. A revised classification was published in 1997, the so-called “Villefranche Nosology”, in which six subtypes were described [3]. Recently, the International Consortium on the Ehlers-Danlos Syndromes updated the EDS classification [4]. Since then, EDS counts thirteen different forms. Among them the hypermobile EDS (hEDS) is the most prevalent (1–3%, around 80% female) [5], and is the only one for which the genetic basis remains unknown. Thus, the diagnosis is clinical.