Subscribe to RSS
![](/products/assets/desktop/img/oa-logo.png)
DOI: 10.1055/s-0034-1387185
Fatal Ruptured Blood Blister-like Aneurysm of Middle Cerebral Artery Associated with Ehlers-Danlos Syndrome Type VIII (Periodontitis Type)
Publication History
28 January 2014
27 May 2014
Publication Date:
11 August 2014 (online)
![](https://www.thieme-connect.de/media/jnlsr/201402/lookinside/thumbnails/10.1055-s-0034-1387185-1.jpg)
Abstract
Objective To illustrate a unique instance of Ehlers-Danlos syndrome type VIII (EDS VIII) with blood blister–like aneurysm of the middle cerebral artery.
Design This is a single patient case report.
Setting University of Wisconsin-Madison Hospital.
Participants A 42-year-old woman with diagnosis of EDS VIII presented with a sudden onset severe headache and altered mental status. She was diagnosed with Hunt and Hess grade IV subarachnoid hemorrhage. Angiography demonstrated a blood blister–like aneurysm of the left middle cerebral artery. After an unsuccessful coiling attempt in another facility, the patient was operated on with the intention to perform extracranial to intracranial bypass and trapping of the diseased segment of the artery.
Results The patient's neurologic condition remained poor after surgery. On postoperative day 2, her neurologic examination unchanged, and care was withdrawn per the family's request.
Conclusions Individuals with EDS VIII may be at risk for catastrophic vascular events.
-
References
- 1 Emery AEH, Rimoin DL, Sofaer JA. Ehlers-Danlos syndrome. In: Byers PH, Holbrook KA, Barsh GS, , eds. Principles and Practice of Medical Genetics. Edinburgh, UK: Churchill Livingstone; 1983: 836-50
- 2 Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Am J Med Genet 1998; 77 (1) 31-37
- 3 Karrer S, Landthaler M, Schmalz G. Ehlers-Danlos type VIII. Review of the literature. Clin Oral Investig 2000; 4 (2) 66-69
- 4 Reinstein E, Wang RY, Zhan L, Rimoin DL, Wilcox WR. Ehlers-Danlos type VIII, periodontitis-type: further delineation of the syndrome in a four-generation pedigree. Am J Med Genet A 2011; 155A (4) 742-747
- 5 Stewart RE, Hollister DW, Rimoin DL. A new variant of Ehlers-Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontitis. Birth Defects Orig Artic Ser 1977; 13 0B 85-93
- 6 Fisher CM, Kistler JP, Davis JM. Relation of cerebral vasospasm to subarachnoid hemorrhage visualized by computerized tomographic scanning. Neurosurgery 1980; 6 (1) 1-9
- 7 Hunt WE, Hess RM. Surgical risk as related to time of intervention in the repair of intracranial aneurysms. J Neurosurg 1968; 28 (1) 14-20
- 8 Biesecker LG, Erickson RP, Glover TW, Bonadio J. Molecular and cytologic studies of Ehlers-Danlos syndrome type VIII. Am J Med Genet 1991; 41 (3) 284-288
- 9 Dyne KM, Vitellaro-Zuccarello L, Bacchella L, Lanzi G, Cetta G. Ehlers-Danlos syndrome type VIII: biochemical, stereological and immunocytochemical studies on dermis from a child with clinical signs of Ehlers-Danlos syndrome and a family history of premature loss of permanent teeth. Br J Dermatol 1993; 128 (4) 458-463
- 10 Mataix J, Bañuls J, Muñoz C, Bermejo A, Climent JM. Periodontal Ehlers-Danlos syndrome associated with type III and I collagen deficiencies. Br J Dermatol 2008; 158 (4) 825-830
- 11 Moore MM, Votava JM, Orlow SJ, Schaffer JV. Ehlers-Danlos syndrome type VIII: periodontitis, easy bruising, marfanoid habitus, and distinctive facies. J Am Acad Dermatol 2006; 55 (2, Suppl): S41-S45
- 12 McKusick VA. Heritable Disorders of Connective Tissue. 4th ed. Saint Louis, MO: Mosby, London, distributed by Kimpton; 1972
- 13 Başkaya MK, Ahmed AS, Ateş O, Niemann D. Surgical treatment of blood blister-like aneurysms of the supraclinoid internal carotid artery with extracranial-intracranial bypass and trapping. Neurosurg Focus 2008; 24 (2) E13
- 14 Schievink WI, Link MJ, Piepgras DG, Spetzler RF. Intracranial aneurysm surgery in Ehlers-Danlos syndrome type IV. Neurosurgery 2002; 51 (3) 607-611 ; discussion 611–613
- 15 Pope FM, Nicholls AC, Narcisi P , et al. Type III collagen mutations in Ehlers Danlos syndrome type IV and other related disorders. Clin Exp Dermatol 1988; 13 (5) 285-302
- 16 Hartsfield Jr JK, Kousseff BG. Phenotypic overlap of Ehlers-Danlos syndrome types IV and VIII. Am J Med Genet 1990; 37 (4) 465-470
- 17 Proske S, Hartschuh W, Enk A, Hausser I. Ehlers-Danlos syndrome—20 years experience with diagnosis and classification at the university skin clinic of Heidelberg. [in German]. J Dtsch Dermatol Ges 2006; 4 (4) 308-318
- 18 Buckel T, Zaenglein AL. What syndrome is this? Ehlers-Danlos syndrome type VIII. Pediatr Dermatol 2007; 24 (2) 189-191
- 19 Cunniff C, Williamson-Kruse L. Ehlers-Danlos syndrome, type VIII presenting with periodontitis and prolonged bleeding time. Clin Dysmorphol 1995; 4 (2) 145-149
- 20 Nelson DL, King RA. Ehlers-Danlos syndrome type VIII. J Am Acad Dermatol 1981; 5 (3) 297-303