• Journal of Chest Surgery
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• v.43 no.3
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• pp.336-339
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• 2010

We successfully performed bleeding control using roll-gauze packing in a patient with Type IV Ehlers-Danlos syndrome and this patient was suffering from spontaneous hemothorax. Thoracotomy for controlling ongoing bleeding in a patient with Type IV Ehlers-Danlos syndrome should be performed as a last resort after due consideration.

• Journal of Korean Neurosurgical Society
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• v.55 no.2
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• pp.92-95
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• 2014

Ehlers-Danlos syndrome (EDS) is a rare inherited connective disease. Among several subgroups, type IV EDS is frequently associated with spontaneous catastrophic bleeding from a vascular fragility. We report on a case of carotid-cavernous fistula (CCF) in a patient with type IV EDS. A 46-year-old female presented with an ophthalmoplegia and chemosis in the right eye. Subsequently, seizure and cerebral infarction with micro-bleeds occurred. CCF was completely occluded with transvenous coil embolization without complications. Thereafter, the patient was completely recovered. Transvenous coil embolization can be a good treatment of choice for spontaneous CCF with type IV EDS. However, every caution should be kept during invasive procedure.

• The Korean Journal of Legal Medicine
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• v.40 no.2
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• pp.61-64
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• 2016

Ehlers-Danlos syndrome type IV (EDS IV) is a hereditary disorder of the connective tissue, characterized by easy bruising, thin skin with visible veins, and spontaneous rupture of the large arteries, uterus, or bowel. EDS IV is caused by mutations of the gene for type III procollagen (COL3A1), resulting in insufficient collagen production or a defect in the structure of collagen. EDS IV can have fatal complications such as the rupture of great vessels or organs, which can cause hemorrhaging and sudden unexpected death. Here, we report a case of a 43-year-old female who collapsed after a struggle with a neighbor. In this patient, the bifurcation of the bilateral common iliac artery ruptured, with no evidence of trauma, inflammation, or atherosclerosis. Genetic analysis of COL3A1 showed the presence of a c.2771G>A (p.Gly924Arg) mutation, which may be associated with EDS IV. The forensic pathologist should consider the possibility that the spontaneous visceral or arterial rupture was caused by EDS IV. Genetic analysis is not currently a routine procedure during autopsy. However, in this case, we suggest that the patient possibly had an underlying EDS IV condition, and we recommended family members of the deceased to seek genetic analysis and counseling.

• Journal of Korean Neurosurgical Society
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• v.48 no.6
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• pp.528-531
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• 2010

Ehlers-Danlos syndrome (EDS) type IV is characterized by its clinical manifestations, which are easy bruising, thin skin with visible veins, and rupture of arteries, uterus, or intestines. Arterial complications are the leading cause of death in vascular EDS because they are unpredictable and surgical repair is difficult due to tissue fragility. The authors report a case presented with cervical radiculopathy due to a segmental fusiform aneurysm of the cervical vertebral artery. Transfemoral cerebral angiography (TFCA) was done to verify the aneurysmal dilatation. However, during TFCA, bleeding at the puncture site was not controlled, skin and underlying muscle was disrupted and profound bleeding occurred during manual compression after femoral catheter removal. Accordingly, surgical repair of the injured femoral artery was performed. At this time it was possible to diagnose it as an EDS with fusiform aneurysm on cervical vertebral artery. Particularly, cervical fusiform aneurysm is rare condition, and therefore, connective tissue disorder must be considered in such cases. If connective tissue disorder is suspected, the authors suggest that a noninvasive imaging modality, such as, high quality computed tomography angiography, be used to evaluate the vascular lesion to avoid potential arterial complications.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.168-173
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• 2014

Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal dominant disorder caused by a mutation of the type III collagen (COL3A1). The manifestation of vEDS can be seen in skin, joints, blood vessels, and internal organs. The diagnosis of vEDS often is missed until the patient presents with a life-threatening complication such as spontaneous arterial rupture or bowel perforation. We report a 16-year-old male who had recurrent right thigh hematoma after simple exercise and minor trauma, respectively. He had a history of surgery due to spontaneous colon perforation at his age of 11 years. Gene test of COL3A1 revealed a novel mutation c.2931+dupT.

• Journal of Chest Surgery
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• v.42 no.5
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• pp.639-644
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• 2009

Characterized by unique phenotypic features such as aortic aneurysm/dissection, hypertelorism, bifid uvula/cleft palate and generalized tortuosity in the arterial system, Loeys-Dietz syndrome is a newly described aggressive connective tissue disorder associated with mutation in the gene encoding transforming growth factor-$\beta$ receptor type I or type II. Some phenotypic manifestations of Loeys-Dietz syndrome overlap with those of Marfan syndrome or Ehlers-Danlos syndrome type IV. However, due to its more malignant pathophysiologic nature, physicians should be alert to Loeys-Dietz syndrome. High suspicion, early diagnosis, preventive surgery and serial imaging assessments are warranted for optimal management of Loeys-Dietz syndrome. We present here a case of a young patient with Loeys-Dietz syndrome who had aortic rupture, bifid uvula and hypertelorism. We also present a review of the medical literature.