Cases reported "Ehlers-Danlos Syndrome"

Filter by keywords:

Retrieving documents. Please wait...

1/439. ehlers-danlos syndrome type VII: clinical features and molecular defects.

    We evaluated the clinical features, molecular defects, and problems associated with the management of two patients who had type-VII ehlers-danlos syndrome and reviewed the cases of eighteen patients with this condition who had been reported on previously. The typical clinical features associated with this syndrome include bilateral congenital dislocation of the hip; severe generalized hypermobility of the joints; multiple dislocations of joints other than the hip; muscular hypotonia; and hyperelasticity, fragility, and a doughy texture of the skin. Collagen and dna analyses demonstrated that both of our patients had type-VIIB ehlers-danlos syndrome, which is caused by heterozygous new mutations of the COL1A2 gene that encodes the proalpha2(I) chain of type-I procollagen. The obligatory GT dinucleotide at the splice donor site of intron 6 was altered in both of our patients: one patient (Case 1) had an A substitution of the G nucleotide, and the other patient (Case 2) had a C substitution of the T nucleotide. Abnormal splicing resulted in the loss of the exon 6-encoded N-telopeptide, which includes the N-proteinase cleavage site. Despite multiple operative procedures, one of our patients, who was thirty-seven years old at the time of the most recent follow-up, continued to have persistent subluxation of the right hip and osteoarthritis of the left hip. Closed reduction of the dislocated hips, regardless of the type of immobilization used, was unsuccessful in all twenty patients. The results of open reduction were improved when capsulorrhaphy was combined with iliac or femoral osteotomy, or both. ( info)

2/439. Incidental detection of acute myocardial infarction during routine performance of three-dimensional dynamic MR angiographic study with dynamic injection of gadolinium.

    We report on the MR appearance of acute myocardial infarction in a 61-year-old man with ehlers-danlos syndrome using motion-independent, T2-weighted echo train spin echo and immediate post-gadolinium three-dimensional gradient echo imaging performed as an MRI angiographic study of the aortic arch. The region of acute infarction was of high signal intensity on the T2-weighted images and demonstrated greatly diminished enhancement on the immediate post-gadolinium three-dimensional gradient echo images. MRI findings showed good correlation with autopsy specimens obtained within 24 hours of the MRI study. ( info)

3/439. connective tissue metabolism in culture fibroblasts of a patient with ehlers-danlos syndrome type I.

    Study on connective tissue metabolism was conducted with a patient with ehlers-danlos syndrome (E-D) of Type I who visited our institute. The conversion of procollagen into tropocollagen in the medium of cultured fibroblasts was assayed by the chase technique using 3H-proline. The conversion was inhibited in the cultured fibroblasts of the patient. The components of glycosaminoglycans in cultured medium and fibroblasts from E-D were within normal ranges, however, the ratio of glycoprotein to glycosaminoglycans of intra- and extra-cellular fractions of E-D fibroblasts was higher than the normal one. These findings suggest that the insufficient maturation of collagen fiber may be considered fundamental disorders of E-D. ( info)

4/439. Spontaneous rupture of bladder diverticula in a girl with ehlers-danlos syndrome.

    A 5-year-old girl with ehlers-danlos syndrome presented with acute abdominal pain and anuria caused by a spontaneous perforation of bladder diverticula. Conservative treatment was successful. ( info)

5/439. Do pathological opposites cancel each other out? Do all patients with both hypermobility and spondylarthropathy fulfill a criterion of any disease?

    When a patient with hypermobility syndrome suffers from ankylosing spondylitis or seronegative spondylarthropathy with spinal stiffness, a part of the mobility criterion of the one disease may be "eliminated" due to the other illness. These two cases may represent typically such opposite effects on mobility. ( info)

6/439. 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. ( info)

7/439. Aneurysms and hypermobility in a 45-year-old woman.

    EDS type IV presents a diagnostic and therapeutic challenge to the primary care physician, surgeon, and rheumatologist. In patients for whom the diagnosis is known, avoidance of trauma, contact sports, or strenuous activities, joint bracing and protection, and counseling on contraception are helpful preventive strategies. In patients presenting with vascular, gastrointestinal, or obstetric complications, a history of hypermobility and skin fragility (easy bruising, abnormal scarring, poor wound healing) should lead to a suspicion of this diagnosis, and to caution in the use of certain invasive diagnostic and operative techniques. Efforts should be made to examine family members. Most importantly, when caring for such patients, the acute onset of headaches, chest pain, shortness of breath, and abdominal pain should arouse suspicion of a potentially catastrophic vascular or visceral event. ( info)

8/439. Preterm premature rupture of membranes in a patient with the hypermobility type of the ehlers-danlos syndrome. A case report.

    OBJECTIVES: This report wants to focus on the risk of severe prematurity in patients with the hypermobility type of the ehlers-danlos syndrome (EDS), a heritable disorder of connective tissue. Although various obstetrical complications have been reported in patients with EDS, most reports specifically comment on the severe complications in patients with the vascular type of EDS, including uterine and arterial rupture. pregnancy outcome in patients presenting the hypermobility type of EDS is poorly documented. CASE: A 33-year-old nullipara was referred for preconceptual genetic counseling with a history of easy bruising, generalized joint hypermobility and chronic arthralgia and myalgia. The diagnosis of the hypermobility type of EDS was confirmed on clinical examination. During her first pregnancy, she underwent a prophylactic McDonald cerclage at 14 weeks' gestation. Premature rupture of membranes occurred at 23 weeks' gestation. A female infant was delivered at 26 weeks and died 3 h after birth. Electron-microscopic examination showed collagen fibre abnormalities in the fetus' skin, which were compatible with the diagnosis of EDS. CONCLUSIONS: patients with the hypermobility type of EDS can have an increased risk for pregnancy complications, including prematurity due to cervical incompetence and to premature rupture of membranes. We therefore demand the clinician's alertness for possible signs of this underdiagnosed type of EDS and recommend the collaboration between the obstetrician and the medical geneticist in the obstetrical management of these patients. ( info)

9/439. ehlers-danlos syndrome: surgical management of mitral regurgitation and atrial fibrillation.

    ehlers-danlos syndrome is associated with fatal cardiovascular complications and intraoperative death. The lack of literature on cardiac surgery in the syndrome makes it difficult for surgeons to assess the risk of an operation and to choose optimal treatment. We describe the case of a 63-year-old man with ehlers-danlos syndrome type I or II, mitral regurgitation and atrial fibrillation who was managed successfully with mitral valve repair and surgical cardioversion. ( info)

10/439. 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. ( info)
| 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.