Subclavian artery pseudoaneurysm in type IV Ehlers-Danlos Syndrome

We report case of a subclavian artery pseudoaneurysm in a patient with type IV Ehlers-Danlos Syndrome. A 16-year-old boy underwent successful repair of a subclavian artery pseudoaneurysm that occurred after a cervical hyperextension injury. Subsequent workup included skin biopsy and fibroblast culture, which were consistent with a diagnosis of type IV Ehlers-Danlos Syndrome. This condition is a dominantly inherited connective tissue disorder, which in this patient was found to be caused by a spontaneous point mutation in the COL3A1 gene that encodes the chains of type III procollagen. The clinical, genetic, and molecular characteristics of type IV Ehlers-Danlos Syndrome are briefly reviewed. (J Vasc Surg 1998;27:549-51.)     

Shoulder instability in Ehlers-Danlos syndrome. An indication for surgical treatment?

In a 19-year-old female patient with Ehlers-Danlos Syndrome and bilateral multidirectional voluntary dislocations, multiple surgical attempts to achieve stability were ineffective. Joint laxity and hyperelastic tissue are underlying factors contributing to failure of stabilization. More importantly, voluntary dislocations often achieve secondary gain and need preoperative psychological evaluation.     

Orthopaedic manifestations of Ehlers-Danlos syndrome

Ehlers-Danlos syndrome is the most prevalent heritable disorder of connective tissue. Musculoskeletal problems include joint pain, swelling and instability, and spinal deformity. This study was undertaken to assess functional orthopaedic problems of patients with Ehlers-Danlos syndrome. Sixty patients with genetically verified Ehlers-Danlos syndrome (range, 8-60 years; mean, 34 years) who attended a National Ehlers-Danlos Syndrome Foundation learning conference were evaluated by questionnaire, clinical examination, and when indicated, radiographs. A database of 250 items per patient was constructed and statistically assessed using analysis of variance. Because of rarity of Types VII and VIII, these two patients were dropped from the analysis. Fifty-eight patients had Ehlers-Danlos syndrome Types I, II, III, or IV and form the study cohort. Among these four types, there were no significant differences in history of joint dislocation, swelling, or types of orthopaedic surgical procedures experienced. Thirty patients with Type III Ehlers-Danlos syndrome reported joint pain more frequently than did patients with Types I, II, or IV. Ambulation was impaired significantly in patients with Type III disorder as a whole, as was functional hand strength and upper extremity function. Back or neck pain was a common (67.2%) report among patients with all types of disease but did not correlate with the presence or absence of spinal deformity. Contrary to most previous reports, the patients in this study showed that Type III Ehlers-Danlos syndrome was the most debilitating form with respect to musculoskeletal function.     

Multiple congenital aneurysms of unknown origin

A case is reported of an 18-year-old man with a syndrome of multiple aneurysms of unknown origin. Several interventions were necessary over a 30-year-period, mainly for haemodynamic reasons or compression. A review of the literature revealed seven similar cases, two of which had Ehlers-Danlos Syndrome.     

Femoral Artery Dissection in Vascular Type Ehlers–Danlos Syndrome; Leave Well Alone?

Vascular Ehlers-Danlos Syndrome (EDS) is a rare autosomal dominant condition resulting from a defect in type III procollagen synthesis. This causes the development of severe vascular pathologies, including arterial rupture and pseudoaneurysm formation. We present a case of a young boy previously diagnosed with vascular EDS due to a Gly975Val substitution in the collagen α1(III) chain presenting with a common femoral artery dissection secondary to minimal trauma. This was managed conservatively with serial duplex scans and gentle mobilization. At follow up the patient had returned to normal activities, with MRA and duplex scans showing complete resolution of the dissection.     

Non-adjacent spondylolisthesis in ehlers-danlos syndrome

To report a case of non-adjacent spondylolisthesis in a patient with Ehlers-Danlos syndrome. Clinical case analysis of a case of Ehlers-Danlos with non-adjacent spondylolisthesis. Review of this case reveals progressive lytic non-adjacent spondylolisthesis in a child with Ehlers-Danlos syndrome. There are no other reported cases of Ehlers-Danlos syndrome associated with non-adjacent spondylolisthesis. A review of the pathophysiology of the disease reveals possible mechanisms for this spinal abnormality.     

Painful subluxation of the carpometacarpal joint of the thumb in Ehlers-Danlos syndrome

Two cases of subluxation of the carpometacarpal joint of the thumb in children with Ehlers-Danlos syndrome are presented. Although hand involvement is not universally appreciated, the carpometacarpal joint of the thumb may be particularly susceptible to weakened ligamentous constraints in Ehlers-Danlos syndrome.     

Bone Density in Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome (EDS) is the most common inherited disorder of connective tissue recognized. The objectives of the present study were to determine bone mineral density (BMD) and biochemical markers of bone metabolism in EDS. Twenty-three subjects with Type III EDS and 23 matched controls underwent BMD measurement by dual-Energy X-ray absorptiometry (DXA) of the lumbar spine and femoral neck. Health history questionnaires and biochemical markers of bone and connective tissue metabolism were also assessed. No significant differences in BMD at the lumbar spine or differences in biochemical markers of bone and connective tissue metabolism were found between EDS subjects and controls. EDS subjects had a significantly decreased BMD at the femoral neck compared with controls, but this difference disappeared after adjustment for body height, weight and physical activity levels. Received: 3 March 1999 / Accepted: 6 August 1999     

Hydroxylysine-deficient skin collagen in a patient with a form of the Ehlers-Danlos syndrome

Two sibs with the Ehlers-Danlos syndrome, one of whom was shown to have hydroxylysine-deficient collagen, are described. In addition to the usual features of the Ehlers-Danlos syndrome (loose-jointedness and excessively stretchable, fragile, and bruisable skin), these patients had severe scoliosis and fragility of ocular tissues leading to rupture of the globe or retinal detachment. This combination of symptoms was tentatively classified as Ehlers-Danlos syndrome, Type VI. The condition is inherited as an autosomal recessive. The activity of lysyl hydroxylase was present at a reduced level in fibroblasts cultured from the patient's skin.     

Arterial complications of Ehlers-Danlos syndrome

Two patients considered to be examples of the Type IV or "arterial" variety of the Ehlers-Danlos Syndrome (EDS) are presented. In case 1 there seems to be little doubt about the diagnosis. Case 2, which is currently under treatment also appears to be an example of EDS, Type IV. The multiple arterial aneurysms and the findings on the skin biopsy appear to substantiate the diagnosis. These two cases demonstrate some of the features of the Type IV variety of EDS. In the first case visceral artery aneurysms dominated the clinical picture and in the second case peripheral arterial aneurysms were dominant. In neither case were the classical manifestations of the disorder, skin hyperelasticity and joint hypermobility, prominent.     

Recurrent common peroneal palsy in association with the Ehlers-Danlos syndrome. A case report.

We report a patient with type III Ehlers-Danlos syndrome, presenting with recurrent footdrop, who had electrophysiologic evidence of a conduction block of the common peroneal nerve followed by complete resolution. We feel that this case supports the possible link between Ehlers-Danlos syndrome and multiple pressure sensitive neuropathy (tomaculous neuropathy), alluded to by Schady and Ochoa (1984).     

Posterior spinal fusion for scoliosis in Ehlers-Danlos syndrome, kyphoscoliosis type

The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders characterized by articular hypermobility, skin extensibility, and tissue fragility. Surgical treatment of scoliosis associated with Ehlers-Danlos syndrome poses a challenge to spine surgeons because of the high risk of major complications. There is a paucity of evidence in the literature on surgical treatment for scoliosis in the Ehlers-Danlos syndrome patient.This article describes 3 adolescent patients diagnosed with Ehlers-Danlos syndrome, kyphoscoliosis type, which was treated by posterior spinal fusion only. After unsuccessful conservative treatment for at least 1 year, the patients underwent posterior spinal surgery for the correction of spinal deformity. A satisfactory correction in the spinal curve was achieved, with no obvious loss of correction during follow-up. No intra- or postoperative major complications were observed.Our experience supports that a satisfactory correction of scoliosis can be achieved by posterior spinal fusion only in patients with Ehlers-Danlos syndrome, kyphoscoliosis type.     

Difficult intubation during rapid sequence induction in a parturient with Ehlers-Danlos syndrome, hypermobility type

There have been several reports of resistance to local anaesthetic agents in women with Ehlers-Danlos syndrome, hypermobility type, also known as Ehlers-Danlos syndrome Type III. General anaesthesia with rapid sequence induction was performed for caesarean section due to prolonged second stage of labour, but intubation proved to be difficult. We propose that intubation difficulty probably arose from collapse of fibro-elastic tissues and adjoining C-shaped cartilages of the trachea with appropriately applied cricoid pressure. We found no other case reports of difficult intubation in patients with Ehlers-Danlos syndrome, hypermobility type. There are reports of cervical spine instability and temporomandibular joint dysfunction in patients with this syndrome suggesting a potential for difficult airway management. Additional anaesthetic problems associated with Ehlers-Danlos syndrome involve patient positioning and vascular access.     

Ehlers-Danlos syndrome complicated by eventration of the diaphragm, colonic perforation and jejunal perforation--a case report

A case of a 61 year old woman with Ehlers-Danlos syndrome who developed recurrent gastrointestinal complications is reported herein. She has been followed by Kyoundo Hospital since 1965, when she originally underwent treatment for eventration of the diaphragm and a volvulus of the stomach at the age of 41. During the past 22 years she has experienced perforation of the colon three times and jejunal perforation once. This case was considered to be type II Ehlers-Danlos syndrome. We have found 12 other cases of Ehlers-Danlos syndrome with gastrointestinal complications in the Japanese literature. More thorough examination of Ehlers-Danlos syndrome cases may reveal more subclinical gastrointestinal abnormalities. We concluded from our experience and from the literature that when colonic perforation occurs in this syndrome, total colectomy and ileo-rectal anastomosis is reasonably indicated.     

Ehlers-danlos syndrome complicated by eventration of the diaphragm,colonic perforation and jejunal perforation —A case report—

A case of a 61 year old woman with Ehlers-Danlos syndrome who developed recurrent gastrointestinal complications is reported herein. She has been followed by Kyoundo Hospital since 1965, when she originally underwent treatment for eventration of the diaphragm and a volvulus of the stomach at the age of 41. During the past 22 years she has experienced perforation of the colon three times and jejunal perforation once. This case was considered to be type II Ehlers-Danlos syndrome. We have found 12 other cases of Ehlers-Danlos syndrome with gastrointestinal complications in the Japanese literature. More thorough examination of Ehlers-Danlos syndrome cases may reveal more subclinical gastrointestinal abnormalities. We concluded from our experience and from the literature that when colonic perforation occurs in this syndrome, total colectomy and ileo-rectal anastomosis is reasonably indicated.     

Endovascular abdominal aortic aneurysm repair in a patient with Ehlers-Danlos syndrome

Ehlers-Danlos syndrome is a connective tissue disorder caused by abnormal collagen synthesis. Vascular complications, including aneurysm formation and spontaneous arterial perforations, are difficult to manage surgically and result in significant operative mortality due to blood vessel fragility. We describe the first reported successful endovascular abdominal aortic aneurysm repair in a patient with Ehlers-Danlos syndrome. We discuss the advantages endovascular surgery offers over open surgery in these patients. We believe that endovascular repair of abdominal aortic aneurysms preferentially over open repair merits consideration in patients with Ehlers-Danlos syndrome.     

Bilateral arthroscopic tendon interposition arthroplasty of the thumb carpometacarpal joint in a patient with Ehlers-Danlos syndrome: a case report

A common finding in progressive osteoarthritis of the carpometacarpal joint of the thumb is ligamentous laxity. In patients with Ehlers-Danlos syndrome, which is a disorder characterized by generalized ligamentous laxity, splinting and arthrodesis have been recommended because of the random results achieved by other reconstructive procedures. We report a patient with thumb carpometacarpal joint osteoarthritis secondary to Ehlers-Danlos syndrome who was treated with bilateral arthroscopic tendon interposition arthroplasty.     

Spontaneous coronary artery dissection in Ehlers-Danlos syndrome

Ehlers-Danlos syndrome is a heterogeneous group of connective tissue disorders with type IV, the vascular subtype, behaving as the most severe largely due to spontaneous arterial aneurysm and dissection. In this case report we describe a spontaneous left anterior descending coronary artery dissection treated with coronary artery bypass graft in a patient with Ehlers-Danlos syndrome type IV.     

Acute para-esophageal hernia in Ehlers-Danlos Syndrome

Para-esophageal herniation is a recognized complication of the Ehlers-Danlos syndrome. While chronic herniation is well described, acute symptomatic herniation is far less common. We describe a case of acute, life-threatening para-esophageal herniation of the abdominal viscera in a young woman with Ehlers-Danlos syndrome. Careful anaesthetic assessment and surgical management resulted in a successful clinical outcome.     

Anaesthetic and intensive care management of a patient with Ehlers-Danlos type IV syndrome after laparotomy

A 31-year-old woman with Ehlers-Danlos type IV syndrome developed multiple intensive care related complications following laparotomy for perforated bowel. Complications are more likely to occur with the Ehlers-Danlos syndrome.