Cases reported "Ehlers-Danlos Syndrome"

Filter by keywords:



Filtering documents. Please wait...

1/46. A patient with ehlers-danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene.

    In the present study, we have characterized a patient with ehlers-danlos syndrome type VI (EDS VI) as homozygous for a pathogenetic mutation in the lysyl hydroxylase 1 (LH1) gene. This mutant allele contributes to very low levels of LH1 mRNA and severely diminished LH activity in his skin fibroblasts. The reduced hydroxylysine content of collagen was reflected in the increased electrophoretic mobility of the type I collagen alpha1 and alpha2 chains precipitated from cell and media samples of cultured patient fibroblasts. The homozygous mutation, a single base change of C1557 --> G which would convert a codon for tyrosine (TAC) at residue 511 to a stop codon (TAG) in exon 14 of the LH1 gene, was identified in full-length cDNAs for LH1 amplified from the patient's fibroblasts. We have demonstrated that the low level of LH activity measured in his fibroblasts may result from a minor processing pathway in which an in-frame skipping of exon 14 containing the mutation restores partial function of the enzyme. The mutation was confirmed in both alleles in genomic dna from the proband and by the maternal inheritance of this mutation. The father's dna was unavailable for analysis. The autosomal recessive nature of EDS VI was verified by the fact that the mother, who has one mutated and one normal allele, is clinically unaffected by this disorder. This mutation, which has been previously observed in another unrelated compound heterozygous patient, may prove to be a more widespread mutation for EDS VI.
- - - - - - - - - -
ranking = 1
keywords = rna
(Clic here for more details about this article)

2/46. Multiple aortocaval fistulas associated with a ruptured abdominal aneurysm in a patient with ehlers-danlos syndrome.

    Aortocaval fistula (ACF) is a rare complication of spontaneous abdominal aortic aneurysm (AAA) rupture, with an incidence of 2-4%. A unique case of ruptured AAA complicated by multiple aortovenous fistulas involving the inferior vena cava and left internal iliac vein is presented, and is the first published report of a patient with ehlers-danlos syndrome undergoing surgical treatment for an ACF.
- - - - - - - - - -
ranking = 1
keywords = rna
(Clic here for more details about this article)

3/46. headache in ehlers-danlos syndrome.

    OBJECTIVE: ehlers-danlos syndrome (EDS) is a complex hereditary connective tissue disorder with neurologic manifestations that include cerebrovascular disorders and chronic pain. The clinical data collected on 18 patients with EDS and chronic headaches is reported. PROCEDURE: Clinical history, neurologic examination, computerized tomography of the head, magnetic resonance imaging (MRI) of the brain, and electroencephalogram (EEG). Headaches were classified according to the International headache Society and the patients were followed by the author for a minimum of 2 years. FINDINGS: Four patients had migraine with aura, four had migraine without aura, four had tension headaches, four had a combination of migraine and tension headaches, and two had post-traumatic headaches. Nine patients exhibited blepharoclonus but none had history of seizures and their EEGs were normal, ruling out eye closure epilepsy. Although one patient had a small right frontal angioma, a second had Arnold Chiari malformation type I, and a third had an old stroke, headaches did not clinically correlate with their central nervous system (CNS) lesions. CONCLUSION: 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. Individuals with EDS may be prone to migraine due to an inherent disorder of cerebrovascular reactivity or cortical excitability. Additional studies are needed to elucidate the pathogenesis of headaches in EDS.
- - - - - - - - - -
ranking = 1
keywords = rna
(Clic here for more details about this article)

4/46. Management of oculus fragilis in Ehlers-Danlos type VI.

    PURPOSE: To describe an alternative, novel surgical approach to the repair of a ruptured globe in the second reported patient with keratoglobus, Ehlers-Danlos type VI, and normal lysyl hydroxylase. methods: Under general anesthesia, a 360 degrees conjunctival peritomy was performed and the epithelium was removed from the keratoglobus cornea. Descemet's membrane and endothelium were removed from a fresh donor corneoscleral ring. An onlay epikeratoplasty was then performed and the entire donor corneoscleral button was secured to the sclera with 9-0 nylon suture. The conjunctiva was brought into position and tacked down over the edge of the donor graft. After 4 months, a full-thickness penetrating keratoplasty was then performed. RESULTS: The patient ultimately had a ruptured globe in the fellow eye and thus required the identical procedure OU. Both eyes were successfully repaired with a final visual acuity OU of 20/100. CONCLUSION: The described surgical approach allowed successful surgical repair of bilateral ruptured globes in a patient with keratoglobus, Ehlers-Danlos type VI, and normal lysyl hydroxylase levels. In the previous report of such a patient by Judisch et al. (1), the attempt at surgical repair was unsuccessful and ended in enucleation. The described surgical technique may be used to treat advanced keratoglobus or oculus fragilis.
- - - - - - - - - -
ranking = 1
keywords = rna
(Clic here for more details about this article)

5/46. Anesthetic management of a parturient with Ehlers Danlos syndrome type IV.

    PURPOSE: To describe the anesthetic management of a parturient with Ehlers Danlos syndrome (EDS) type IV. Clinical features: A 29-yr-old pregnant woman with EDS type IV was seen in the Obstetric anesthesia Pre-assessment Clinic at 30 weeks gestation. She had a history of vertebral artery dissection, resulting in a transient neurological deficit at 22 yr of age. She had a normal vaginal delivery with continuous epidural analgesia for the delivery of her first child at 27 yr of age, before the diagnosis of EDS was made. Recent fibroblast culture demonstrated the production of abnormal procollagen type III, which is pathognomonic for EDS type IV. The patient and obstetrician preferred a repeat vaginal birth with instrumental delivery in the second stage. analgesia for labour and delivery was provided with a continuous epidural infusion of ropivacaine and fentanyl. She delivered a healthy female infant with the use of outlet forceps, without complications. CONCLUSION: A pre-delivery, multidisciplinary, individualized management plan is required in patients with EDS, a rare disease with variable clinical features. In the case described, continuous epidural analgesia was effective and associated with excellent maternal and fetal outcomes.
- - - - - - - - - -
ranking = 1
keywords = rna
(Clic here for more details about this article)

6/46. Surgical management of ehlers-danlos syndrome: first report of a pedigree in china.

    OBJECTIVE: To describe a case of ehlers-danlos syndrome type IV and its pedigree in china. methods: Clinical materials of a case of ehlers-danlos syndrome type IV and a pedigree of 6 members within 4 generations were analyzed. Dilated internal jugular vein in the proband was removed by operation. The diagnosis, surgical treatment, and postoperative complications were retrospectively reviewed. RESULTS: Vessels of the proband in the pedigree were crisp and easily lacinated during the procedure of removing his internal jugular vein. Repeating postoperative hematomas were found though complete stanching was achieved during the operation. The patient was successfully recovered by promptly debridgement and needle sucking. The other 5 members of the pedigree all had the triads of ehlers-danlos syndrome. CONCLUSIONS: Though it was of extremely low morbidity rate, the high mortality rate and complication of ehlers-danlos syndrome deserve great attention during surgical management, especially in patients with ehlers-danlos syndrome type IV. Surgeons should be aware of the ponderance of its complications and combined diseases to avoid fatal intraoperative vascular lascination and incontrollable hemorrhage.
- - - - - - - - - -
ranking = 2
keywords = rna
(Clic here for more details about this article)

7/46. chiropractic management of ehlers-danlos syndrome: a report of two cases.

    OBJECTIVE: To discuss 2 patients with ehlers-danlos syndrome seeking chiropractic evaluation and management of their disabling musculoskeletal pain and associated disorders. CLINICAL FEATURES: Two disabled patients diagnosed with Ehlers-Danlos syndrome had spinal pain, including neck and back pain, headache, and extremity pain. Commonalities among these 2 cases included abnormal spinal curvatures (kyphosis and scoliosis), joint hypermobility, and tissue fragility. One patient had postsurgical thoracolumbar spinal fusion (T11-sacrum) for scoliosis and osteoporosis. The other patient had moderate anterior head translation. INTERVENTION AND OUTCOME: Both patients were treated with mechanical force and manually assisted spinal adjustments delivered to various spinal segments and extremities utilizing an Activator II Adjusting Instrument and Activator methods chiropractic Technique. patients were also given postural advice, stabilization exercises, and postural corrective exercises, as indicated in chiropractic biophysics Technique protocols. Both patients were able to reduce pain and anti-inflammatory medication usage in association with chiropractic care. Significant improvement in self-reported pain and disability as measured by visual analog score, Oswestry Low-Back Disability Index, and neck pain Disability Index were reported, and objective improvements in physical examination and spinal alignment were also observed following chiropractic care. Despite these improvements, work disability status remained unchanged in both patients. CONCLUSION: chiropractic care may be of benefit to some patients with connective tissue disorders, including ehlers-danlos syndrome. Low-force chiropractic adjusting techniques may be a preferred technique of choice in patients with tissue fragility, offering clinicians a viable alternative to traditional chiropractic care in attempting to minimize risks and/or side effects associated with spinal manipulation. Psychosocial issues, including patient desire to return to work, were important factors in work disability status and perceived outcome.
- - - - - - - - - -
ranking = 1
keywords = rna
(Clic here for more details about this article)

8/46. Successful coil embolization for spontaneous arterial rupture in association with ehlers-danlos syndrome type IV: report of a case.

    When a patient with ehlers-danlos syndrome (EDS) presents with a vascular emergency, performing life-saving surgery can be difficult because of the profound fragility of the arterial tissue. We report the case of a 27-year-old woman with EDS in whom a spontaneous arterial rupture was successfully treated with transcatheter embolization. The patient was brought to our hospital in shock, with left lower abdominal pain. She had been diagnosed with EDS type IV following a colonic rupture 8 years earlier. An emergency angiogram revealed rupture of the left external iliac artery. The active bleeding was managed by transarterial embolization of the ruptured artery using stainless steel coils, which took 30 min to achieve. The patient has not suffered any further vascular complications during the year since this procedure. Transcatheter coil embolization may be a reliable option for treating sudden arterial rupture in patients with this syndrome.
- - - - - - - - - -
ranking = 1
keywords = rna
(Clic here for more details about this article)

9/46. The natural history, including orofacial features of three patients with ehlers-danlos syndrome, dermatosparaxis type (EDS type VIIC).

    ehlers-danlos syndrome (EDS) dermatosparaxis type (type VIIC) and the related disease of cattle dermatosparaxis, are recessively inherited connective tissue disorders, caused by a deficient activity of procollagen I N-proteinase, the enzyme that excises the N-terminal propeptide in procollagen type I, type II, and type III. Although well documented in cattle, to date only seven human cases have been recorded, most of them aged under 2 years. We document the natural history of three patients with EDS dermatosparaxis type, two of whom have been reported before the age of 2 years, and one new patient. The phenotype of the patients, and especially the facial resemblance, is striking, making this a clinically recognizable condition. The most consistent anomalies during the first years of life are premature rupture of the membranes, extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers. Joint hypermobility becomes more important with age. The children are at risk for rupture of internal organs due to soft tissue fragility, as is illustrated by different internal events in two of the three patients described here. Orofacial features include micrognathia, a frontal open bite, and gingival hyperplasia with varying degrees of hyperkeratosis. The deciduous dentition shows abnormal morphology of the molars, obliteration of the tooth pulp, and severe enamel attrition. The permanent dentition shows agenesis and microdontia of several teeth. tooth discoloration, dysplastic roots, and tooth pulp obliteration are present in a restricted number of permanent teeth.
- - - - - - - - - -
ranking = 2
keywords = rna
(Clic here for more details about this article)

10/46. Spontaneous carotid-cavernous fistula in a patient with ehlers-danlos syndrome type IV--case report.

    A 30-year-old female complained of sudden onset of severe proptosis, chemosis, diplopia, and bruit. Right carotid angiography showed a high-flow direct carotid-cavernous fistula (CCF) draining into the engorged superior ophthalmic vein, inferior petrosal sinus, and pterygoid plexus. The patient experienced retroperitoneal bleeding from a ruptured right renal artery after undergoing cerebral angiography. We suspected ehlers-danlos syndrome (EDS) type IV, which was confirmed by showing cultured fibroblasts failed to secrete procollagen type III. Endovascular surgery cannot be considered the treatment method of choice in view of the fragility of the arteries and veins in patients with EDS type IV. We treated our patient with extracranial internal carotid artery ligation. Currently, there is no ideal treatment for CCF in patients with EDS type IV. Since CCF is rarely life-threatening, the investigative approach and course of treatment must consider the associated vascular fragility.
- - - - - - - - - -
ranking = 1
keywords = rna
(Clic here for more details about this article)
| Next ->


Leave a message about 'Ehlers-Danlos Syndrome'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.