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Progressive Vision Loss: A Rare Manifestation of Familial Cavernous Angiomas

Progressive Vision Loss: A Rare Manifestation of Familial Cavernous Angiomas Abstract • We studied four generations of a family in which the index case had progressive loss of vision secondary to a cavernous angioma of the optic nerve and chiasm. Magnetic resonance imaging of the brain revealed multiple, asymptomatic intracerebral cavernous angiomas. Brain magnetic resonance imaging scans of the family members revealed multiple cavernous angiomas in the brother and paternal grandfather, but none in the father or his siblings. Autopsy reports of the paternal great grandfather noted multiple cavernous angiomas in the brain and abdominal viscera. We believe our patient to be the sixth reported case in which a cavernous angioma involved the optic chiasm and optic nerve. Magnetic resonance imaging is a sensitive and specific method of detecting cavernous angiomas. Cavernous angiomas have an autosomal dominant pattern of inheritance with variable penetrance. Surgical intervention in patients with symptomatic cavernous angiomas depends on the location and size of the lesion and associated surgical risks. References 1. Russell DS, Rubinstein LJ. Pathology of Tumors of the Nervous System . 5th ed. Baltimore, Md: Williams & Wilkins;1989;730-735. 2. Rigamonti D, Hadley MN, Drayer BP, et al. Cerebral cavernous malformations: incidence and familial occurrence . N Engl J Med . 1988;319:343-347.Crossref 3. Wood MW, White RJ, Kernohan JW. Cavernous hemangiomatosis involving the brain, spinal cord, heart, skin and kidneys . Mayo Clin Proc . 1957;32:249-254. 4. Jaffe RH. Multiple hemangiomas of the skin and of the internal organs . Arch Pathol . 1929;7:44-54. 5. Mohr G, Hardy J, Gauvin P. Chiasmal apoplexy due to ruptured cavernous hemangioma of the optic chiasm . Surg Neurol . 1985;24:36-40.Crossref 6. Harris GJ, Jakobiec FA. Cavernous hemangioma of the orbit . J Neurosurg . 1979;51:219-228.Crossref 7. Yamasaki T, Handa H, Yamashita J, et al. Intracranial and orbital cavernous angiomas: review of 30 cases . J Neurosurg . 1986;64:197-208.Crossref 8. Buonaguidi R, Canapicci R, Mimassi N, Ferdighini M. Intrasellar cavernous hemangioma . Neurosurgery . 1984;14:732-734.Crossref 9. Sansone ME, Liwnicz BH, Mandybur TI. Giant pituitary cavernous hemangioma: case report . J Neurosurg . 1980;53:124-126.Crossref 10. Corboy JR, Galetta SL. Familial cavernous angiomas manifesting with an acute chiasmal syndrome . Am J Ophthalmol . 1989;108:245-250. 11. Voight K, Yasargil MG. Cerebral cavernous hemangiomas or cavernomas: incidence, pathology, localization, diagnosis, clinical features and treatment: review of the literature and report of an unusual case . Neurochirurgia . 1976;19:59-68. 12. Namba S. Extracerebral cavernous hemangioma of the middle cranial fossa . Surg Neurol . 1983;19:379-388.Crossref 13. Kavai K, Fukui M, Tanaka A, et al. Extracerebral cavernous hemangioma of the middle fossa . Surg Neurol . 1978;9:19-25. 14. Villani RM, Arienta C, Caroli M. Cavernous angiomas of the central nervous system . J Neurosurg Sci . 1989;33:229-252. 15. Rosenblum B, Rothman A, Lanzieri C, et al. A cavernous sinus cavernous hemangioma: case report . J Neurosurg . 1986;65:716-718.Crossref 16. Hayman LA, Evans RA, Ferrell RE, Fahr LM, Ostrow P, Riccardi VM. Familial cavernous angiomas: natural history and genetic study over a 5-year period . Am J Med Genet . 1982;11:147-160.Crossref 17. Maitland CG, Abiko S, Hoyt WF, Wilson CB, Okamura T. Chiasmal apoplexy: report of four cases . J Neurosurg . 1982;56:118-122.Crossref 18. Lavin PJM, McCrary JA, Roessmann U, Ellenberger C. Chiasmal apoplexy: hemorrhage from a cryptic vascular malformation in the optic chiasm . Neurology . 1984;34:1007-1011.Crossref 19. Holt H. Cysts of the intracranial portion of the optic nerve . Am J Ophthalmol . 1966;61:1166-1170. 20. Mohr G, Hardy J. Hemorrhage, necrosis and apoplexy in pituitary adenomas . Surg Neurol . 1982;18:181-189.Crossref 21. Sibony PA, Lessell S, Wray S. Chiasmal syndrome caused by arteriovenous malformations . Arch Ophthalmol . 1982;100:438-442.Crossref 22. Maruoka N, Yamakawa Y, Shimaguchi M. Cavernous hemangioma of the optic nerve: case report . J Neurosurg . 1988;69:292-294.Crossref 23. Manz HJ, Klien LH, Fermaglich J, Fermaglich J, Kattah J, Luessenhop AJ. Cavernous hemangioma of optic chiasm, optic nerves and right optic tract . Virchows Arch . 1979;383:225.Crossref 24. Houtteville JP. Table ronde, les cavernomes intra-craniens . Neurochirurgie . 1989;34:75-77. 25. Giombini S, Morello G. Cavernous angiomas of the brain: account of 14 personal cases and review of the literature . Acta Neurochir . 1978;40:61-82.Crossref 26. Gomori JM, Grossman RI, Goldberg HI, Zimmerman RA, Bilaniuk LT. Intracranial hematomas: imaging by high-field MR . Radiology . 1985;157:87-93.Crossref 27. Dobyns WB, Michels VV, Groover RV, et al. Familial cavernous malformations of the central nervous system and retina . Ann Neurol . 1987;21:578-583.Crossref 28. Kufs H. Uber heredofamiliare angiomatose des gehirns und der retina, ihre beziehungen zueinander und zur angiomatose der haut . Neurol Psychiatry . 1928;113:651-686.Crossref 29. Michael JC, Levin PM. Multiple telangiectases of the brain: a discussion of hereditary factors on their development . Arch Neurol Psychiatry . 1936;36:514-529.Crossref 30. Kidd HA, Cumings JN. Cerebral angiomata in an Icelandic family . Lancet . 1947;1:747-748.Crossref 31. Clark JV. Familial occurrence of cavernous angiomata of the brain . J Neurol Neurosurg Psychiatry . 1970;33:871-876.Crossref 32. Bicknell JM, Carlow TJ, Kornfeld M, Storring J, Turner P. Familial cavernous angiomas . Arch Neurol . 1978;35:746-749.Crossref 33. Combelles G, Blond S, Biondi A, CombellesPruvot M, Szikla G, Christiaens JL. Formes familiales des hemangiomes caverneux intracraniens: à propos de 5 cas dans deux familles . Neurochirurgie . 1983;29:263-269. 34. Rigamonti D, Drayer BP, Johnson PC, Hadley MN, Zabranski J, Spetzler RF. The MRI appearance of cavernous malformations (angiomas) . J Neurosurg . 1987;67:518-524.Crossref 35. Lejeune JP, Combelles G, Christiaens JL. Formes familiales des cavernomes . Neurochirurgie . 1989;35:111-112. 36. Mason I, Aase JM, Orrison WW, Wicks JD, Seigel RS, Bicknell JM. Familial cavernous angiomas of the brain in a Hispanic family . Neurology . 1988;38:324-326.Crossref 37. Rutka JT, Brant-Zawadzki M, Wilson CB, Rosenblum ML. Familial cavernous malformations: diagnostic potential of magnetic resonance imaging . Surg Neurol . 1988;29:467-474.Crossref 38. Bicknell JM. Familial cavernous angioma of the brain stem dominantly inherited in Hispanics . Neurosurgery . 1989;24:102-105.Crossref 39. Ondra SL, Doty JR, Mahla LE, George ED. Surgical excision of cavernous hemangioma of the rostral brain stem: case report . Neurosurgery . 1988;23:490-493.Crossref 40. Solomon RA. Surgical excision of cavernous hemangioma of the rostral brain stem: case report . Neurosurgery . 1988;23:493. 41. Vaquero J, Salazar J, Martinez P, Bravo G. Cavernomas of the central nervous system: clinical syndromes, CT scan diagnosis, and prognosis after surgical treatment in 25 cases . Acta Neurochir . 1987;85:29-33.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

Progressive Vision Loss: A Rare Manifestation of Familial Cavernous Angiomas

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Publisher
American Medical Association
Copyright
Copyright © 1992 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1992.00530260072023
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Abstract

Abstract • We studied four generations of a family in which the index case had progressive loss of vision secondary to a cavernous angioma of the optic nerve and chiasm. Magnetic resonance imaging of the brain revealed multiple, asymptomatic intracerebral cavernous angiomas. Brain magnetic resonance imaging scans of the family members revealed multiple cavernous angiomas in the brother and paternal grandfather, but none in the father or his siblings. Autopsy reports of the paternal great grandfather noted multiple cavernous angiomas in the brain and abdominal viscera. We believe our patient to be the sixth reported case in which a cavernous angioma involved the optic chiasm and optic nerve. Magnetic resonance imaging is a sensitive and specific method of detecting cavernous angiomas. Cavernous angiomas have an autosomal dominant pattern of inheritance with variable penetrance. Surgical intervention in patients with symptomatic cavernous angiomas depends on the location and size of the lesion and associated surgical risks. References 1. Russell DS, Rubinstein LJ. Pathology of Tumors of the Nervous System . 5th ed. Baltimore, Md: Williams & Wilkins;1989;730-735. 2. Rigamonti D, Hadley MN, Drayer BP, et al. Cerebral cavernous malformations: incidence and familial occurrence . N Engl J Med . 1988;319:343-347.Crossref 3. Wood MW, White RJ, Kernohan JW. Cavernous hemangiomatosis involving the brain, spinal cord, heart, skin and kidneys . Mayo Clin Proc . 1957;32:249-254. 4. Jaffe RH. Multiple hemangiomas of the skin and of the internal organs . Arch Pathol . 1929;7:44-54. 5. Mohr G, Hardy J, Gauvin P. Chiasmal apoplexy due to ruptured cavernous hemangioma of the optic chiasm . Surg Neurol . 1985;24:36-40.Crossref 6. Harris GJ, Jakobiec FA. Cavernous hemangioma of the orbit . J Neurosurg . 1979;51:219-228.Crossref 7. Yamasaki T, Handa H, Yamashita J, et al. Intracranial and orbital cavernous angiomas: review of 30 cases . J Neurosurg . 1986;64:197-208.Crossref 8. Buonaguidi R, Canapicci R, Mimassi N, Ferdighini M. Intrasellar cavernous hemangioma . Neurosurgery . 1984;14:732-734.Crossref 9. Sansone ME, Liwnicz BH, Mandybur TI. Giant pituitary cavernous hemangioma: case report . J Neurosurg . 1980;53:124-126.Crossref 10. Corboy JR, Galetta SL. Familial cavernous angiomas manifesting with an acute chiasmal syndrome . Am J Ophthalmol . 1989;108:245-250. 11. Voight K, Yasargil MG. Cerebral cavernous hemangiomas or cavernomas: incidence, pathology, localization, diagnosis, clinical features and treatment: review of the literature and report of an unusual case . Neurochirurgia . 1976;19:59-68. 12. Namba S. Extracerebral cavernous hemangioma of the middle cranial fossa . Surg Neurol . 1983;19:379-388.Crossref 13. Kavai K, Fukui M, Tanaka A, et al. Extracerebral cavernous hemangioma of the middle fossa . Surg Neurol . 1978;9:19-25. 14. Villani RM, Arienta C, Caroli M. Cavernous angiomas of the central nervous system . J Neurosurg Sci . 1989;33:229-252. 15. Rosenblum B, Rothman A, Lanzieri C, et al. A cavernous sinus cavernous hemangioma: case report . J Neurosurg . 1986;65:716-718.Crossref 16. Hayman LA, Evans RA, Ferrell RE, Fahr LM, Ostrow P, Riccardi VM. Familial cavernous angiomas: natural history and genetic study over a 5-year period . Am J Med Genet . 1982;11:147-160.Crossref 17. Maitland CG, Abiko S, Hoyt WF, Wilson CB, Okamura T. Chiasmal apoplexy: report of four cases . J Neurosurg . 1982;56:118-122.Crossref 18. Lavin PJM, McCrary JA, Roessmann U, Ellenberger C. Chiasmal apoplexy: hemorrhage from a cryptic vascular malformation in the optic chiasm . Neurology . 1984;34:1007-1011.Crossref 19. Holt H. Cysts of the intracranial portion of the optic nerve . Am J Ophthalmol . 1966;61:1166-1170. 20. Mohr G, Hardy J. Hemorrhage, necrosis and apoplexy in pituitary adenomas . Surg Neurol . 1982;18:181-189.Crossref 21. Sibony PA, Lessell S, Wray S. Chiasmal syndrome caused by arteriovenous malformations . Arch Ophthalmol . 1982;100:438-442.Crossref 22. Maruoka N, Yamakawa Y, Shimaguchi M. Cavernous hemangioma of the optic nerve: case report . J Neurosurg . 1988;69:292-294.Crossref 23. Manz HJ, Klien LH, Fermaglich J, Fermaglich J, Kattah J, Luessenhop AJ. Cavernous hemangioma of optic chiasm, optic nerves and right optic tract . Virchows Arch . 1979;383:225.Crossref 24. Houtteville JP. Table ronde, les cavernomes intra-craniens . Neurochirurgie . 1989;34:75-77. 25. Giombini S, Morello G. Cavernous angiomas of the brain: account of 14 personal cases and review of the literature . Acta Neurochir . 1978;40:61-82.Crossref 26. Gomori JM, Grossman RI, Goldberg HI, Zimmerman RA, Bilaniuk LT. Intracranial hematomas: imaging by high-field MR . Radiology . 1985;157:87-93.Crossref 27. Dobyns WB, Michels VV, Groover RV, et al. Familial cavernous malformations of the central nervous system and retina . Ann Neurol . 1987;21:578-583.Crossref 28. Kufs H. Uber heredofamiliare angiomatose des gehirns und der retina, ihre beziehungen zueinander und zur angiomatose der haut . Neurol Psychiatry . 1928;113:651-686.Crossref 29. Michael JC, Levin PM. Multiple telangiectases of the brain: a discussion of hereditary factors on their development . Arch Neurol Psychiatry . 1936;36:514-529.Crossref 30. Kidd HA, Cumings JN. Cerebral angiomata in an Icelandic family . Lancet . 1947;1:747-748.Crossref 31. Clark JV. Familial occurrence of cavernous angiomata of the brain . J Neurol Neurosurg Psychiatry . 1970;33:871-876.Crossref 32. Bicknell JM, Carlow TJ, Kornfeld M, Storring J, Turner P. Familial cavernous angiomas . Arch Neurol . 1978;35:746-749.Crossref 33. Combelles G, Blond S, Biondi A, CombellesPruvot M, Szikla G, Christiaens JL. Formes familiales des hemangiomes caverneux intracraniens: à propos de 5 cas dans deux familles . Neurochirurgie . 1983;29:263-269. 34. Rigamonti D, Drayer BP, Johnson PC, Hadley MN, Zabranski J, Spetzler RF. The MRI appearance of cavernous malformations (angiomas) . J Neurosurg . 1987;67:518-524.Crossref 35. Lejeune JP, Combelles G, Christiaens JL. Formes familiales des cavernomes . Neurochirurgie . 1989;35:111-112. 36. Mason I, Aase JM, Orrison WW, Wicks JD, Seigel RS, Bicknell JM. Familial cavernous angiomas of the brain in a Hispanic family . Neurology . 1988;38:324-326.Crossref 37. Rutka JT, Brant-Zawadzki M, Wilson CB, Rosenblum ML. Familial cavernous malformations: diagnostic potential of magnetic resonance imaging . Surg Neurol . 1988;29:467-474.Crossref 38. Bicknell JM. Familial cavernous angioma of the brain stem dominantly inherited in Hispanics . Neurosurgery . 1989;24:102-105.Crossref 39. Ondra SL, Doty JR, Mahla LE, George ED. Surgical excision of cavernous hemangioma of the rostral brain stem: case report . Neurosurgery . 1988;23:490-493.Crossref 40. Solomon RA. Surgical excision of cavernous hemangioma of the rostral brain stem: case report . Neurosurgery . 1988;23:493. 41. Vaquero J, Salazar J, Martinez P, Bravo G. Cavernomas of the central nervous system: clinical syndromes, CT scan diagnosis, and prognosis after surgical treatment in 25 cases . Acta Neurochir . 1987;85:29-33.Crossref

Journal

Archives of NeurologyAmerican Medical Association

Published: Feb 1, 1992

References