scholarly journals Hereditary Connective Tissue Diseases in Young Adult Stroke: A Comprehensive Synthesis

2011 ◽  
Vol 2011 ◽  
pp. 1-18 ◽  
Author(s):  
Olivier M. Vanakker ◽  
Dimitri Hemelsoet ◽  
Anne De Paepe
Keyword(s):  
Connective Tissue ◽  
Metabolic Disorders ◽  
Type Iv Collagen ◽  
Connective Tissue Diseases ◽  
Haemorrhagic Stroke ◽  
Monogenic Disease ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Danlos Syndrome

Though the genetic background of ischaemic and haemorrhagic stroke is often polygenetic or multifactorial, it can in some cases result from a monogenic disease, particularly in young adults. Besides arteriopathies and metabolic disorders, several connective tissue diseases can present with stroke. While some of these diseases have been recognized for decades as causes of stroke, such as the vascular Ehlers-Danlos syndrome, others only recently came to attention as being involved in stroke pathogenesis, such as those related to Type IV collagen. This paper discusses each of these connective tissue disorders and their relation with stroke briefly, emphasizing the main clinical features which can lead to their diagnosis.

scholarly journals Neurovascular manifestations of connective-tissue diseases: A review

2016 ◽  
Vol 22 (6) ◽  
pp. 624-637 ◽  
Author(s):  
Sarasa T Kim ◽  
Waleed Brinjikji ◽  
Giuseppe Lanzino ◽  
David F Kallmes
Keyword(s):  
Connective Tissue ◽  
Treatment Options ◽  
Connective Tissue Diseases ◽  
Neurofibromatosis Type ◽  
Cerebrovascular Diseases ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome ◽  
Heritable Connective Tissue Disorders

Patients with connective tissue diseases are thought to be at a higher risk for a number of cerebrovascular diseases such as intracranial aneurysms, dissections, and acute ischemic strokes. In this report, we aim to understand the prevalence and occurrences of such neurovascular manifestations in four heritable connective tissue disorders: Marfan syndrome, Ehlers-Danlos syndrome, Neurofibromatosis Type 1, and Loeys-Dietz syndrome. We discuss the fact that although there are various case studies reporting neurovascular findings in these connective tissue diseases, there is a general lack of case-control and prospective studies investigating the true prevalence of these findings in these patient populations. Furthermore, the differences observed in the manifestations and histology of such disease pathologies encourages future multi-center registries and studies in better characterizing the pathophysiology, prevalence, and ideal treatment options of neurovascular lesions in patents with connective tissue diseases.

scholarly journals Respiratory Complications in Patients with Ehlers-Danlos Syndrome: A Systematic Review

2021 ◽  
Vol 7 (2) ◽  
pp. 1-7
Author(s):  
Christina Parducci ◽  
Keyword(s):  
Systematic Review ◽  
Connective Tissue ◽  
Connective Tissue Disorders ◽  
Respiratory Complications ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

The Ehlers-Danlos Syndromes (EDS) are genetic connective tissue disorders that are currently categorized into 14 subtypes. Symptoms of each subtype overlap, with some distinct manifestations

scholarly journals A case report of obstetrical management of a pregnancy with hypermobile Ehlers–Danlos syndrome and literature review

2013 ◽  
Vol 6 (2) ◽  
pp. 80-82 ◽  
Author(s):  
H Khalil ◽  
J Rafi ◽  
T T Hla
Keyword(s):  
Case Report ◽  
Connective Tissue Disorders ◽  
Maternal Complications ◽  
Successful Pregnancy ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Obstetric Management ◽  
Maternal And Neonatal Outcomes ◽  
Obstetrical Management ◽  
Danlos Syndrome

We present a case report of a successful pregnancy outcome in a woman diagnosed with Ehlers–Danlos syndrome (EDS) hypermobility type or type III. EDS is a group of connective tissue disorders that has a common genotypic defect, but heterogeneous phenotypic presentations. The variation in EDS manifestations can result in moderate to severe effects on life-expectancy for some types. A number of studies and a review of the literature indicate that generally in pregnant women with EDS, maternal and neonatal outcomes are favourable. However, in EDS type IV, pregnancy can be associated with serious maternal complications. Therefore, obstetrical management should be individualized. This paper discusses the obstetric management of a patient with EDS hypermobility type and compares it to other studies in the literature.

scholarly journals Spontaneous Diaphragmatic Rupture in Hypermobile Type Ehlers-Danlos Syndrome

2017 ◽  
Vol 2017 ◽  
pp. 1-3 ◽  
Author(s):  
Ruchi Amin ◽  
Brett H. Waibel
Keyword(s):  
Connective Tissue ◽  
Surgical Intervention ◽  
Clinical Manifestations ◽  
Acute Onset ◽  
Diaphragmatic Rupture ◽  
Shortness Of Breath ◽  
Significant Morbidity ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Ehlers-Danlos Syndrome refers to a spectrum of connective tissue disorders that have a variety of clinical manifestations. In this case, we present a spontaneous diaphragmatic rupture in a patient with type III Ehlers-Danlos Syndrome. The patient presented with worsening shortness of breath after failure of medical therapy for a presumed pneumonia. A CT scan was obtained which showed diaphragmatic rupture with splenic herniation which was repaired in the operating room via thoracotomy. It is important to include diaphragmatic rupture in the differential diagnosis for patients with connective tissue disease and acute onset tachypnea and pain, as this complication has the potential for significant morbidity without prompt surgical intervention.

scholarly journals Dysmetabolic nephropathy in children with hereditary connective tissue dysplasia

2020 ◽  
Vol 65 (1) ◽  
pp. 71-76
Author(s):  
E. A. Yurieva ◽  
V. V. Dlin ◽  
E. S. Vozdvizhenskaya ◽  
V. S. Sukhorukov ◽  
A. N. Semyachkina ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Metabolic Disorders ◽  
Antioxidant Defense ◽  
Dynamic Monitoring ◽  
Crystal Formation ◽  
Lipid Hydroperoxides ◽  
Urinary System ◽  
Ehlers Danlos Syndrome ◽  
Connective Tissue Dysplasia ◽  
Danlos Syndrome

Nephropathy is a common associated pathology with hereditary connective tissue dysplasiaPurpose. To determine clinical and laboratory signs of renal pathology in the conditions of persisting hypoxic syndrome and anatomic abnormalities of the urinary system with hereditary connective tissue dysplasia syndromes in children Characteristics of children and research methods. We examined 36 children with Ehlers–Danlos syndrome and 10 children with Marfan syndrome to reveal signs of metabolic disorders in the blood and urine.Results. All children revealed abnormalities of the urinary system. In addition, children with Ehlers–Danlos syndrome demonstrated an increase in certain signs of dysmetabolic nephropathy when growing older: an increased content of parathyroid hormone in the blood, which inactivation and elimination is normally provided by the kidneys. Hypermicroproteinuria with a high content of microelements in proteins, increased excretion of medium molecules, lipid hydroperoxides, glycosaminoglycans, a decrease in antioxidant defense and crystal formation inhibitors are the characteristic signs of dysmetabolic nephropathy.Conclusion. Children with hereditary connective tissue dysplasia syndromes have a risk of developing nephropathy with signs characteristic of dysmetabolic nephropathy, requiring dynamic monitoring by a nephrologist. 

A Critical Analysis of the Perioperative Management of Patients with Ehlers Danlos Type IV (Vascular) Syndrome

2017 ◽  
Vol 27 (9) ◽  
pp. 196-199
Author(s):  
J Martin
Keyword(s):  
Perioperative Management ◽  
Emergency Situation ◽  
Joint Hypermobility ◽  
Connective Tissue Disorders ◽  
Care Needs ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Vascular Type ◽  
Theatre Staff ◽  
Danlos Syndrome

This paper discusses the perioperative care needs of patients with Ehlers Danlos type IV (vascular) syndrome. Ehlers Danlos syndrome (EDS) is a heritable group of connective tissue disorders characterised by varying degrees of tissue, blood vessel and internal organ fragility as well as skin and joint hypermobility (De Paepe & Malfait 2012). In 1997 EDS was revised and classified into six subtypes: classical (Types I and II), hypermobility, vascular (Type IV), kyphoscoliosis and arthrochalasia type. Each classification has been based on the following aspects: diagnostic uniformity, natural history, management, genetics, and the identification of potential areas for research (Beighton et al 1998). Vascular type EDS has serious implications for any form of surgical procedure and it is therefore imperative that theatre staff are fully conversant with the needs of this patient group. Overall awareness needs to be increased, particularly as most patients will most frequently be seen in an emergency situation, as elective procedures are avoided as far as possible.

scholarly journals A floppy infant without lingual frenulum and kyphoscoliosis: Ehlers Danlos syndrome case report

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Rosaura Conti ◽  
Chiara Zanchi ◽  
Egidio Barbi
Keyword(s):  
Connective Tissue ◽  
Muscular Atrophy ◽  
Neuromuscular Disorders ◽  
Joint Hypermobility ◽  
Mechanical Instability ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Lower Lip ◽  
Floppy Infant ◽  
Danlos Syndrome

Abstract Background Ehlers-Danlos syndrome (EDS) represents a group of connective tissue disorders characterized by the fragility of the soft connective tissues resulting in widespread skin, ligament, joint, blood vessel and internal organ involvement. The clinical spectrum is highly variable in terms of clinical features, complications, severity, biochemical characteristics and genes mutations. The kyphoscoliotic type EDS (EDS VIA) is a rare variant of the disease, with an incidence of 1:100.000 live births. EDS VIA presents at birth as severe muscular hypotonia, early onset of progressive kyphoscoliosis, marked hyperelasticity and fragility of the skin with abnormal scarring, severe joint hypermobility, luxations and osteopenia without a tendency to fractures. This condition is due to a mutation in the PLOD1 gene, and less commonly in FKBP14 gene, which results in the erroneous development of collagen molecules with consequent mechanical instability of the affected tissue. Case presentation A female newborn, found to be floppy at birth, presented a remarkable physical examination for joint hypermobility, muscle weakness, hyperelastic skin, a slight curve of the spine, the absence of the inferior labial and lingual frenulum. Due to severe hypotonia, neuromuscular disorders such as Spinal Muscular Atrophy (SMA), genetic diseases such as Prader Willi syndrome (PWS), myopathies and connective tissue disorders were considered in the differential diagnosis. Targeted gene sequencing were performed for SMN1, PLOD1, FKBP14, COL6A1, COL6A2, COL6A3. The urinary lysyl and hydroxy-lysyl pyridinoline ratio was diagnostic before discovering the homozygous duplication in the PLOD1 gene, which confirmed kyphoscoliotic EDS diagnosis. Conclusion In front of a floppy infant, a large variety of disorders should be considered, including some connective diseases. The presence at the birth of kyphoscoliosis, associated with joint hypermobility and the absence of the lingual and lower lip frenulum, should suggest an EDS.

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