Spontaneous carotid-cavernous fistulae in Ehlers-Danlos syndrome Type IV

Case report

View More View Less
  • 1 Departments of Neurologic Surgery and Medical Genetics, Mayo Clinic, Rochester, Minnesota; and Department of Diagnostic Radiology, Mayo Clinic Jacksonville, Jacksonville, Florida
Restricted access

Purchase Now

USD  $45.00

JNS + Pediatrics - 1 year subscription bundle (Individuals Only)

USD  $515.00

JNS + Pediatrics + Spine - 1 year subscription bundle (Individuals Only)

USD  $612.00
Print or Print + Online

✓ Spontaneous bilateral carotid-cavernous fistulae and cervical artery dissection is reported in a 20-year-old woman with Ehlers-Danlos syndrome Type IV. The clinical features of 16 previously published cases of spontaneous carotid-cavernous fistulae associated with Ehlers-Danlos syndrome Type IV are reviewed, for a total of 17 cases. The mean age of the 14 women and three men was 31.6 years. Only direct fistulae were encountered. Diagnostic neuroangiography carried morbidity and mortality rates of 36% and 12%, respectively; neuroradiological treatment resulted in death in one of six patients. The possible value of desmopressin in the management of these patients is discussed. In view of the risks of arterial puncture and surgery, the authors emphasize the importance of early recognition of Ehlers-Danlos syndrome.

JNS + Pediatrics - 1 year subscription bundle (Individuals Only)

USD  $515.00

JNS + Pediatrics + Spine - 1 year subscription bundle (Individuals Only)

USD  $612.00
  • 1.

    Balleisen L, , Gay S, & Marx R, et al: Comparative investigation on the influence of human bovine collagen types I, II, and III on the aggregation of human platelets. Klin Wochenschr 53:903905, 1975 Balleisen L, Gay S, Marx R, et al: Comparative investigation on the influence of human bovine collagen types I, II, and III on the aggregation of human platelets. Klin Wochenschr 53:903–905, 1975

    • Search Google Scholar
    • Export Citation
  • 2.

    Bannerman RM, , Graf CJ, & Upson JF: Ehlers-Danlos syndrome. Br Med J 3:558559, 1967 (Letter) Bannerman RM, Graf CJ, Upson JF: Ehlers-Danlos syndrome. Br Med J 3:558–559, 1967 (Letter)

    • Search Google Scholar
    • Export Citation
  • 3.

    Barabas AP: Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defects. Br Med J 2:612613, 1967 Barabas AP: Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defects. Br Med J 2:612–613, 1967

    • Search Google Scholar
    • Export Citation
  • 4.

    Barnhart MI, , Chen S, & Lusher JM: DDAVP: does the drug have a direct effect on the vessel wall? Thromb Res 31:239253, 1983 Barnhart MI, Chen S, Lusher JM: DDAVP: does the drug have a direct effect on the vessel wall? Thromb Res 31:239–253, 1983

    • Search Google Scholar
    • Export Citation
  • 5.

    Barrow DL, , Spector RH, & Braun IF, et al: Classification and treatment of spontaneous carotid-cavernous sinus fistulas. J Neurosurg 62:248256, 1985 Barrow DL, Spector RH, Braun IF, et al: Classification and treatment of spontaneous carotid-cavernous sinus fistulas. J Neurosurg 62:248–256, 1985

    • Search Google Scholar
    • Export Citation
  • 6.

    Beighton P: Lethal complications of the Ehlers-Danlos syndrome. Br Med J 3:656658, 1968 Beighton P: Lethal complications of the Ehlers-Danlos syndrome. Br Med J 3:656–658, 1968

    • Search Google Scholar
    • Export Citation
  • 7.

    Beighton P, , de Paepe A, & Danks D, et al: International nosology of heritable disorders of connective tissue, Berlin, 1986. Am J Med Genet 29:581594, 1988 Beighton P, de Paepe A, Danks D, et al: International nosology of heritable disorders of connective tissue, Berlin, 1986. Am J Med Genet 29:581–594, 1988

    • Search Google Scholar
    • Export Citation
  • 8.

    Cikrit DF, , Miles JH, & Silver D: Spontaneous arterial perforation: the Ehlers-Danlos specter. J Vasc Surg 5:248255, 1987 Cikrit DF, Miles JH, Silver D: Spontaneous arterial perforation: the Ehlers-Danlos specter. J Vasc Surg 5:248–255, 1987

    • Search Google Scholar
    • Export Citation
  • 9.

    Dany F, , Fraysse A, & Priollet P, et al: Syndrome dysmorphique et dysplasie vasculaire: une forme atypique d'Ehlers-Danlos type IV. J Mal Vasc 11:263269, 1986 Dany F, Fraysse A, Priollet P, et al: Syndrome dysmorphique et dysplasie vasculaire: une forme atypique d'Ehlers-Danlos type IV. J Mal Vasc 11:263–269, 1986

    • Search Google Scholar
    • Export Citation
  • 10.

    Dean JCS, , Pope FM, & Phillips R, et al: A family with Ehlers-Danlos syndrome Type IV: recessive or dominant? J Med Genet 26:210, 1989 (Abstract) Dean JCS, Pope FM, Phillips R, et al: A family with Ehlers-Danlos syndrome Type IV: recessive or dominant? J Med Genet 26:210, 1989 (Abstract)

    • Search Google Scholar
    • Export Citation
  • 11.

    Debrun GM, , Viñuela F, & Fox AJ, et al: Indications for treatment and classification of 132 carotid-cavernous fistulas. Neurosurgery 22:285289, 1988 Debrun GM, Viñuela F, Fox AJ, et al: Indications for treatment and classification of 132 carotid-cavernous fistulas. Neurosurgery 22:285–289, 1988

    • Search Google Scholar
    • Export Citation
  • 12.

    De Keizer RJW: Spontaneous carotid-cavernous fistulas. Neuroophthalmology 2:3546, 1981 De Keizer RJW: Spontaneous carotid-cavernous fistulas. Neuroophthalmology 2:35–46, 1981

    • Search Google Scholar
    • Export Citation
  • 13.

    Dolenc V: Direct microsurgical repair of intracavernous vascular lesions. J Neurosurg 58:824831, 1983 Dolenc V: Direct microsurgical repair of intracavernous vascular lesions. J Neurosurg 58:824–831, 1983

    • Search Google Scholar
    • Export Citation
  • 14.

    Editorial: Desmopressin and arterial thrombosis. Lancet 1:938939, 1989 Editorial: Desmopressin and arterial thrombosis. Lancet 1:938–939, 1989

    • Search Google Scholar
    • Export Citation
  • 15.

    Farley MK, , Clark RD, & Fallor MK, et al: Spontaneous carotid-cavernous fistula and the Ehlers-Danlos syndromes. Ophthalmology 90:13371342, 1983 Farley MK, Clark RD, Fallor MK, et al: Spontaneous carotid-cavernous fistula and the Ehlers-Danlos syndromes. Ophthalmology 90:1337–1342, 1983

    • Search Google Scholar
    • Export Citation
  • 16.

    Fox R, , Pope FM, & Narcisi P, et al: Spontaneous carotid-cavernous fistula in Ehlers-Danlos syndrome. J Neurol Neurosurg Psychiatry 51:984986, 1988 Fox R, Pope FM, Narcisi P, et al: Spontaneous carotid-cavernous fistula in Ehlers-Danlos syndrome. J Neurol Neurosurg Psychiatry 51:984–986, 1988

    • Search Google Scholar
    • Export Citation
  • 17.

    François B, , de Paepe A, & Matton MT, et al: Pulse wave velocity recordings in a family with ecchymotic Ehlers-Danlos syndrome. Int Angiol 5:15, 1986 François B, de Paepe A, Matton MT, et al: Pulse wave velocity recordings in a family with ecchymotic Ehlers-Danlos syndrome. Int Angiol 5:1–5, 1986

    • Search Google Scholar
    • Export Citation
  • 18.

    François PW, , Woillez M, & Maillet WP, et al: Maladie d'Ehlers-Danlos avec anévrysme artério-veineux intracranien. Bull Soc Ophtalmol Fr 5:392395, 1955 François PW, Woillez M, Maillet WP, et al: Maladie d'Ehlers-Danlos avec anévrysme artério-veineux intracranien. Bull Soc Ophtalmol Fr 5:392–395, 1955

    • Search Google Scholar
    • Export Citation
  • 19.

    Gay S, , Balleisen L, & Remberger K, et al: Immunohistochemical evidence for the presence of collagen type III in human arterial walls, arterial thrombi, and in leukocytes, incubated with collagen in vitro. Klin Wochenschr 53:899902, 1975 Gay S, Balleisen L, Remberger K, et al: Immunohistochemical evidence for the presence of collagen type III in human arterial walls, arterial thrombi, and in leukocytes, incubated with collagen in vitro.Klin Wochenschr 53:899–902, 1975

    • Search Google Scholar
    • Export Citation
  • 20.

    Graf CJ: Spontaneous carotid-cavernous fistula. Ehlers-Danlos syndrome and related conditions. Arch Neurol 13:662672, 1965 Graf CJ: Spontaneous carotid-cavernous fistula. Ehlers-Danlos syndrome and related conditions. Arch Neurol 13:662–672, 1965

    • Search Google Scholar
    • Export Citation
  • 21.

    Guiolet M, , Jouhaud F, & Malbrel C, et al: Maladie d'Ehlers-Danlos — fistule arterio-veineuse. Bull Soc Ophtalmol Fr 84:267268, 1984 Guiolet M, Jouhaud F, Malbrel C, et al: Maladie d'Ehlers-Danlos — fistule arterio-veineuse. Bull Soc Ophtalmol Fr 84:267–268, 1984

    • Search Google Scholar
    • Export Citation
  • 22.

    Halbach VV, , Higashida RT, & Dowd CF, et al: Treatment of carotid-cavernous fistulas associated with Ehlers-Danlos syndrome. Neurosurgery 26:10211027, 1990 Halbach VV, Higashida RT, Dowd CF, et al: Treatment of carotid-cavernous fistulas associated with Ehlers-Danlos syndrome. Neurosurgery 26:1021–1027, 1990

    • Search Google Scholar
    • Export Citation
  • 23.

    Halbach VV, , Higashida RT, & Hieshima GB, et al: Transvenous embolization of direct carotid cavernous fistulas. AJNR 9:741747, 1988 Halbach VV, Higashida RT, Hieshima GB, et al: Transvenous embolization of direct carotid cavernous fistulas. AJNR 9:741–747, 1988

    • Search Google Scholar
    • Export Citation
  • 24.

    Ishikawa M, , Handa H, & Taki W, et al: Management of spontaneous carotid-cavernous fistulae. Surg Neurol 18:131139, 1982 Ishikawa M, Handa H, Taki W, et al: Management of spontaneous carotid-cavernous fistulae. Surg Neurol 18:131–139, 1982

    • Search Google Scholar
    • Export Citation
  • 25.

    Julien J, & De Boucaud D: Fistule carotido-caverneuse spontanée et maladie d'Ehlers-Danlos. Presse Med 79:12411242, 1971 Julien J, De Boucaud D: Fistule carotido-caverneuse spontanée et maladie d'Ehlers-Danlos. Presse Med 79:1241–1242, 1971

    • Search Google Scholar
    • Export Citation
  • 26.

    Kobrinsky NL, , Israels E, & Gerrard JM, et al: Shortening of bleeding time by 1-deamino-8-D-arginine vasopressin in various bleeding disorders. Lancet 1:11451148, 1984 Kobrinsky NL, Israels E, Gerrard JM, et al: Shortening of bleeding time by 1-deamino-8-D-arginine vasopressin in various bleeding disorders. Lancet 1:1145–1148, 1984

    • Search Google Scholar
    • Export Citation
  • 27.

    Kupersmith MJ, , Berenstein A, & Choi S, et al: Management of nontraumatic vascular shunts involving the cavernous sinus. Ophthalmology 95:121130, 1988 Kupersmith MJ, Berenstein A, Choi S, et al: Management of nontraumatic vascular shunts involving the cavernous sinus. Ophthalmology 95:121–130, 1988

    • Search Google Scholar
    • Export Citation
  • 28.

    Lach B, , Nair SG, & Russell NA, et al: Spontaneous carotid-cavernous fistula and multiple arterial dissections in Type IV Ehlers-Danlos syndrome. Case report. J Neurosurg 66:462467, 1987 Lach B, Nair SG, Russell NA, et al: Spontaneous carotid-cavernous fistula and multiple arterial dissections in Type IV Ehlers-Danlos syndrome. Case report. J Neurosurg 66:462–467, 1987

    • Search Google Scholar
    • Export Citation
  • 29.

    Manucci PM, & Lusher JM: Desmopressin and thrombosis. Lancet 2:675676, 1989 Manucci PM, Lusher JM: Desmopressin and thrombosis. Lancet 2:675–676, 1989

    • Search Google Scholar
    • Export Citation
  • 30.

    Manucci PM, , Ruggeri ZM, & Pareti FI, et al: 1-deamino-8-D-arginine vasopressin: a new pharmacological approach to the management of haemophilia and von Willebrand disease. Lancet 1:869872, 1977 Manucci PM, Ruggeri ZM, Pareti FI, et al: 1-deamino-8-D-arginine vasopressin: a new pharmacological approach to the management of haemophilia and von Willebrand disease. Lancet 1:869–872, 1977

    • Search Google Scholar
    • Export Citation
  • 31.

    Maugery G, , Rambaud G, & Franck JP, et al: Fistule carotido-caverneuse spontanée chez un sujet jeune dans un contexte plurimalformatif. Bull Soc Ophtalmol Fr 72:499502, 1972 Maugery G, Rambaud G, Franck JP, et al: Fistule carotido-caverneuse spontanée chez un sujet jeune dans un contexte plurimalformatif. Bull Soc Ophtalmol Fr 72:499–502, 1972

    • Search Google Scholar
    • Export Citation
  • 32.

    Mayne R: Vascular connective tissue. Normal biology and derangement in human diseases, in Uitto J, & Perejda AJ (eds): Connective Tissue Disease. Molecular Pathology of the Extracellular Matrix. New York: Marcel Dekker, 1987, pp 163183 Mayne R: Vascular connective tissue. Normal biology and derangement in human diseases, in Uitto J, Perejda AJ (eds): Connective Tissue Disease. Molecular Pathology of the Extracellular Matrix. New York: Marcel Dekker, 1987, pp 163–183

    • Search Google Scholar
    • Export Citation
  • 33.

    McKusick VA: Heritable Disorders of Connective Tissue, ed 4. St Louis: CV Mosby, 1972, pp 292371 McKusick VA: Heritable Disorders of Connective Tissue, ed 4. St Louis: CV Mosby, 1972, pp 292–371

    • Search Google Scholar
    • Export Citation
  • 34.

    Newton TH, & Hoyt WF: Dural arteriovenous shunts in the region of the cavernous sinus. Neuroradiology 1:7181, 1970 Newton TH, Hoyt WF: Dural arteriovenous shunts in the region of the cavernous sinus. Neuroradiology 1:71–81, 1970

    • Search Google Scholar
    • Export Citation
  • 35.

    Østergaard JR, & Oxlund H: Collagen type III deficiency in patients with rupture of intracranial saccular aneurysms. J Neurosurg 67:690696, 1987 Østergaard JR, Oxlund H: Collagen type III deficiency in patients with rupture of intracranial saccular aneurysms. J Neurosurg 67:690–696, 1987

    • Search Google Scholar
    • Export Citation
  • 36.

    Peaceman AM, & Cruikshank DP: Ehlers-Danlos syndrome and pregnancy: association of type IV disease with maternal death. Obstet Gynecol 69:428431, 1987 Peaceman AM, Cruikshank DP: Ehlers-Danlos syndrome and pregnancy: association of type IV disease with maternal death. Obstet Gynecol 69:428–431, 1987

    • Search Google Scholar
    • Export Citation
  • 37.

    Peeters FLM, & Kröger R: Dural and direct cavernous sinus fistulas. AJR 132:599606, 1979 Peeters FLM, Kröger R: Dural and direct cavernous sinus fistulas. AJR 132:599–606, 1979

    • Search Google Scholar
    • Export Citation
  • 38.

    Pope FM, , Child AH, & Nicholls AC, et al: Type III collagen deficiency with normal phenotype. J R Soc Med 76:518520, 1983 Pope FM, Child AH, Nicholls AC, et al: Type III collagen deficiency with normal phenotype. J R Soc Med 76:518–520, 1983

    • Search Google Scholar
    • Export Citation
  • 39.

    Pope FM, , Martin GR, & Lichtenstein JR, et al: Patients with Ehlers-Danlos syndrome Type IV lack Type III collagen. Proc Natl Acad Sci USA 72:13141316, 1975 Pope FM, Martin GR, Lichtenstein JR, et al: Patients with Ehlers-Danlos syndrome Type IV lack Type III collagen. Proc Natl Acad Sci USA 72:1314–1316, 1975

    • Search Google Scholar
    • Export Citation
  • 40.

    Pope FM, , Martin GR, & McKusick VA: Inheritance of Ehlers-Danlos Type IV syndrome. J Med Genet 14:200204, 1977 Pope FM, Martin GR, McKusick VA: Inheritance of Ehlers-Danlos Type IV syndrome. J Med Genet 14:200–204, 1977

    • Search Google Scholar
    • Export Citation
  • 41.

    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 13:285302, 1988 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 13:285–302, 1988

    • Search Google Scholar
    • Export Citation
  • 42.

    Porey S, & Falk CT: Report of the Committee on the Genetic Constitution of Chromosome 2. Cytogenet Cell Genet 51:91105, 1989 Porey S, Falk CT: Report of the Committee on the Genetic Constitution of Chromosome 2. Cytogenet Cell Genet 51:91–105, 1989

    • Search Google Scholar
    • Export Citation
  • 43.

    Rougier J, , Sellem E, & Grochowicki M, et al: Fistule carotido-caverneuse spontanée compliquée d'oblitération de l'artère centrale de la rétine et de décollement rétinien. Bull Soc Ophtalmol Fr 82:14831485, 1982 Rougier J, Sellem E, Grochowicki M, et al: Fistule carotido-caverneuse spontanée compliquée d'oblitération de l'artère centrale de la rétine et de décollement rétinien. Bull Soc Ophtalmol Fr 82:1483–1485, 1982

    • Search Google Scholar
    • Export Citation
  • 44.

    Ruby ST, , Kramer J, & Cassidy SB, et al: Internal carotid artery aneurysm: a vascular manifestation of type IV Ehlers-Danlos syndrome. Conn Med 53:142144, 1989 Ruby ST, Kramer J, Cassidy SB, et al: Internal carotid artery aneurysm: a vascular manifestation of type IV Ehlers-Danlos syndrome. Conn Med 53:142–144, 1989

    • Search Google Scholar
    • Export Citation
  • 45.

    Sakariassen KS, , Bolhuis PA, & Sixma JJ: Human blood platelet adhesion to artery subendothelium is mediated by factor VIII-Von Willebrand factor bound to the subendothelium. Nature 279:636638, 1979 Sakariassen KS, Bolhuis PA, Sixma JJ: Human blood platelet adhesion to artery subendothelium is mediated by factor VIII-Von Willebrand factor bound to the subendothelium. Nature 279:636–638, 1979

    • Search Google Scholar
    • Export Citation
  • 46.

    Sasaki H, , Nukui H, & Kaneko M, et al: Long-term observations in cases with spontaneous carotid-cavernous fistulas. Acta Neurochir 90:117120, 1988 Sasaki H, Nukui H, Kaneko M, et al: Long-term observations in cases with spontaneous carotid-cavernous fistulas. Acta Neurochir 90:117–120, 1988

    • Search Google Scholar
    • Export Citation
  • 47.

    Schievink WI, & Limburg M: Angiographic abnormalities mimicking fibromuscular dysplasia in a patient with Ehlers-Danlos syndrome, type IV. Neurosurgery 25:482483, 1989 (Letter) Schievink WI, Limburg M: Angiographic abnormalities mimicking fibromuscular dysplasia in a patient with Ehlers-Danlos syndrome, type IV. Neurosurgery 25:482–483, 1989 (Letter)

    • Search Google Scholar
    • Export Citation
  • 48.

    Schievink WI, , Limburg M, & Oorthuys JWE, et al: Cerebrovascular disease in Ehlers-Danlos syndrome type IV. Stroke 21:626632, 1990 Schievink WI, Limburg M, Oorthuys JWE, et al: Cerebrovascular disease in Ehlers-Danlos syndrome type IV. Stroke 21:626–632, 1990

    • Search Google Scholar
    • Export Citation
  • 49.

    Schoolman A, & Kepes JJ: Bilateral spontaneous carotid-cavernous fistulae in Ehlers-Danlos syndrome. Case report. J Neurosurg 26:8286, 1967 Schoolman A, Kepes JJ: Bilateral spontaneous carotid-cavernous fistulae in Ehlers-Danlos syndrome. Case report. J Neurosurg 26:82–86, 1967

    • Search Google Scholar
    • Export Citation
  • 50.

    Van Meek'ren J: Heel -en Geneeskonstige Aanmerkkingen. Amsterdam: C Commelijn, 1668, pp 170172 Van Meek'ren J: Heel -en Geneeskonstige Aanmerkkingen. Amsterdam: C Commelijn, 1668, pp 170–172

    • Search Google Scholar
    • Export Citation
  • 51.

    Viñuela F, , Fox AJ, & Debrun GM, et al: Spontaneous carotid-cavernous fistulas: clinical, radiological, and therapeutic considerations. Experience with 20 cases. J Neurosurg 60:976984, 1984 Viñuela F, Fox AJ, Debrun GM, et al: Spontaneous carotid-cavernous fistulas: clinical, radiological, and therapeutic considerations. Experience with 20 cases. J Neurosurg 60:976–984, 1984

    • Search Google Scholar
    • Export Citation
  • 52.

    Weinbaum PJ, , Cassidy SB, & Campbell WA, et al: Pregnancy management and successful outcome of Ehlers-Danlos syndrome type IV. Am J Perinatol 4:134137, 1987 Weinbaum PJ, Cassidy SB, Campbell WA, et al: Pregnancy management and successful outcome of Ehlers-Danlos syndrome type IV. Am J Perinatol 4:134–137, 1987

    • Search Google Scholar
    • Export Citation
  • 53.

    Wesley JR, , Mahour GH, & Woolley MM: Multiple surgical problems in two patients with Ehlers-Danlos syndrome. Surgery 87:319324, 1980 Wesley JR, Mahour GH, Woolley MM: Multiple surgical problems in two patients with Ehlers-Danlos syndrome. Surgery 87:319–324, 1980

    • Search Google Scholar
    • Export Citation

Metrics

All Time Past Year Past 30 Days
Abstract Views 690 133 24
Full Text Views 274 7 1
PDF Downloads 119 2 1
EPUB Downloads 0 0 0