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NEUROFIBROMATOSIS WITH DEFECT IN WALL OF ORBIT: Report of Five Cases

NEUROFIBROMATOSIS WITH DEFECT IN WALL OF ORBIT: Report of Five Cases Abstract SINCE von Recklinghausen described neurofibromatosis in 1882 there has been a radical change in the concept of this disease. It is now well recognized that the cutaneous tumors and the pigmentation, as described by von Recklinghausen, are only two manifestations of a congenital defect which, in its widespread involvement, may affect practically any or all of the systems of the body. HEREDITY The hereditary nature of neurofibromatosis has been conclusively established, but Preiser and Davenport1 have shown especially well that its inheritance follows regular mendelian principles and that the hereditary factor controlling it is a dominant one. They collected 30 cases from the literature in which 2 or more members of a family were affected. Uhlmann and Grossman2 examined 60 members of 3 families with Recklinghausen's disease and found evidence of the disease (either tumor formation or pigmentation) in 13 of these persons. In 1 family members of References 1. Preiser, S. A., and Davenport, C. B.: Multiple Neurofibromatosis (von Recklinghausen's Disease) and Its Inheritance, with Description of a Case , Am. J. M. Sc. 156:507, 1918.Crossref 2. Uhlmann, E., and Grossman, A.: Von Recklinghausen's Neurofibromatosis with Bone Manifestations , Ann. Int. Med. 14:225, 1940.Crossref 3. Stahnke, E.: Ueber Knochenveränderungen bei Neurofibromatose , Deutsche Ztschr. f. Chir. 168:6, 1922.Crossref 4. Masson, P.: Experimental and Spontaneous Schwannomas , Am. J. Path. 8:367, 1932. 5. Penfield, W.: Cytology and Cellular Pathology of the Nervous System , New York, Paul B. Hoeber, Inc., 1932, p. 974. 6. Penfield, W., and Young, A. W.: The Nature of von Recklinghausen's Disease and the Tumors Associated with It , Arch. Neurol. & Psychiat. 23:320 ( (Feb.) ) 1930. 7. Brooks, B., and Lehman, E. P.: The Bone Changes in Recklinghausen's Neurofibromatosis , Surg., Gynec. & Obst. 38:587, 1924. 8. Lehman, E. P.: Recklinghausen's Neurofibromatosis and the Skeleton , Arch. Dermat. & Syph. 14:178 ( (Aug.) ) 1926. 9. Pfeiffer, R. L.: Roentgenography of Exophthalmos with Note on Roentgen Ray in Ophthalmology , Am. J. Ophth. 26:724, 1943. 10. Rosendahl, T.: Some Cranial Changes in von Recklinghausen's Neurofibromatosis , Acta radiol. 19:373, 1938, 11. Farberov, B. J.: Röntgenologisches Schädelbild bei Neurofibromatosis Recklinghausen , Ztschr. f. Augenh. 89:81, 1936. 12. LeWald, L. T.: Congenital Absence of the Superior Orbital Wall Associated with Pulsating Exophthalmos: Report of Four Cases , Am. J. Roentgenol. 30:756, 1933. 13. Wheeler, J. M.: Pulsation of the Eyeball Associated with Defects in the Wall of the Orbit , Bull. Neurol. Inst. New York 5:476, 1936. 14. Moore, R. F.: Diffuse Neurofibromatosis with Proptosis , Brit. J. Ophth. 15:272, 1931. 15. Moore, B. G.: Some Orthopedic Relationships of Neurofibromatosis , J. Bone & Joint Surg. 23:109, 1941. 16. Rockliffe and Parsons, H.: Plexiform Neuroma of the Orbit , Tr. Path. Soc. London 55:27, 1904. 17. Moore, A. E.: Neurofibromatosis Associated with Proptosis and Defect of the Orbital Wall , Australian & New Zealand J. Surg. 5:314, 1936. 18. van der Hoeve, J.: Doyne Memorial Lecture: Eye Symptoms in Phakomatosis , Tr. Ophth. Soc. U. Kingdom 52:38, 1932. 19. Avisonis, P.: Zur Frage über den Zusammenhang der einseitigen Elephantiasis des Oberlides mit Erweiterung der Sella turcica , Ztschr. f. Augenh. 63: 235, 1927. 20. Heublein, G. W.; Pendergrass, E. P., and Widmann, B. P.: Roentgenographic Findings in the Neurocutaneous Syndromes , Radiology 35:701, 1940. 21. Cooper, L.: Plexiform Neuroma of Upper Lid and Temporal Region , Tr. Ophth. Soc. U. Kingdom 26:136, 1906. 22. Rosendahl.8 23. Moore.12 24. Davis, F. A.: Primary Tumors of the Optic Nerve (a Phenomenon of von Recklinghausen's Disease) , Arch. Ophth. 23:735 ( (April) ) 1940.Crossref 25. Zentmayer, W.: A Case of Plexiform Neurofibroma Involving the Orbit , Tr. Am. Ophth. Soc. 13:205, 1912. 26. Hosoi, K.: Multiple Neurofibromatosis (von Recklinghausen's Disease) , Arch. Surg. 22:258 ( (Feb.) ) 1931.Crossref 27. Dandy, W. E.: An Operative Treatment for Certain Cases of Meningocele (or Encephalocele) into the Orbit , Arch. Ophth. 2:123 ( (Aug.) ) 1929.Crossref 28. Anderson, J. R.: Hydrophthalmia or Congenital Glaucoma , London, Cambridge University Press, 1939, p. 166. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology & Psychiatry American Medical Association

NEUROFIBROMATOSIS WITH DEFECT IN WALL OF ORBIT: Report of Five Cases

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Publisher
American Medical Association
Copyright
Copyright © 1946 American Medical Association. All Rights Reserved.
ISSN
0096-6754
DOI
10.1001/archneurpsyc.1946.02300140079005
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Abstract

Abstract SINCE von Recklinghausen described neurofibromatosis in 1882 there has been a radical change in the concept of this disease. It is now well recognized that the cutaneous tumors and the pigmentation, as described by von Recklinghausen, are only two manifestations of a congenital defect which, in its widespread involvement, may affect practically any or all of the systems of the body. HEREDITY The hereditary nature of neurofibromatosis has been conclusively established, but Preiser and Davenport1 have shown especially well that its inheritance follows regular mendelian principles and that the hereditary factor controlling it is a dominant one. They collected 30 cases from the literature in which 2 or more members of a family were affected. Uhlmann and Grossman2 examined 60 members of 3 families with Recklinghausen's disease and found evidence of the disease (either tumor formation or pigmentation) in 13 of these persons. In 1 family members of References 1. Preiser, S. A., and Davenport, C. B.: Multiple Neurofibromatosis (von Recklinghausen's Disease) and Its Inheritance, with Description of a Case , Am. J. M. Sc. 156:507, 1918.Crossref 2. Uhlmann, E., and Grossman, A.: Von Recklinghausen's Neurofibromatosis with Bone Manifestations , Ann. Int. Med. 14:225, 1940.Crossref 3. Stahnke, E.: Ueber Knochenveränderungen bei Neurofibromatose , Deutsche Ztschr. f. Chir. 168:6, 1922.Crossref 4. Masson, P.: Experimental and Spontaneous Schwannomas , Am. J. Path. 8:367, 1932. 5. Penfield, W.: Cytology and Cellular Pathology of the Nervous System , New York, Paul B. Hoeber, Inc., 1932, p. 974. 6. Penfield, W., and Young, A. W.: The Nature of von Recklinghausen's Disease and the Tumors Associated with It , Arch. Neurol. & Psychiat. 23:320 ( (Feb.) ) 1930. 7. Brooks, B., and Lehman, E. P.: The Bone Changes in Recklinghausen's Neurofibromatosis , Surg., Gynec. & Obst. 38:587, 1924. 8. Lehman, E. P.: Recklinghausen's Neurofibromatosis and the Skeleton , Arch. Dermat. & Syph. 14:178 ( (Aug.) ) 1926. 9. Pfeiffer, R. L.: Roentgenography of Exophthalmos with Note on Roentgen Ray in Ophthalmology , Am. J. Ophth. 26:724, 1943. 10. Rosendahl, T.: Some Cranial Changes in von Recklinghausen's Neurofibromatosis , Acta radiol. 19:373, 1938, 11. Farberov, B. J.: Röntgenologisches Schädelbild bei Neurofibromatosis Recklinghausen , Ztschr. f. Augenh. 89:81, 1936. 12. LeWald, L. T.: Congenital Absence of the Superior Orbital Wall Associated with Pulsating Exophthalmos: Report of Four Cases , Am. J. Roentgenol. 30:756, 1933. 13. Wheeler, J. M.: Pulsation of the Eyeball Associated with Defects in the Wall of the Orbit , Bull. Neurol. Inst. New York 5:476, 1936. 14. Moore, R. F.: Diffuse Neurofibromatosis with Proptosis , Brit. J. Ophth. 15:272, 1931. 15. Moore, B. G.: Some Orthopedic Relationships of Neurofibromatosis , J. Bone & Joint Surg. 23:109, 1941. 16. Rockliffe and Parsons, H.: Plexiform Neuroma of the Orbit , Tr. Path. Soc. London 55:27, 1904. 17. Moore, A. E.: Neurofibromatosis Associated with Proptosis and Defect of the Orbital Wall , Australian & New Zealand J. Surg. 5:314, 1936. 18. van der Hoeve, J.: Doyne Memorial Lecture: Eye Symptoms in Phakomatosis , Tr. Ophth. Soc. U. Kingdom 52:38, 1932. 19. Avisonis, P.: Zur Frage über den Zusammenhang der einseitigen Elephantiasis des Oberlides mit Erweiterung der Sella turcica , Ztschr. f. Augenh. 63: 235, 1927. 20. Heublein, G. W.; Pendergrass, E. P., and Widmann, B. P.: Roentgenographic Findings in the Neurocutaneous Syndromes , Radiology 35:701, 1940. 21. Cooper, L.: Plexiform Neuroma of Upper Lid and Temporal Region , Tr. Ophth. Soc. U. Kingdom 26:136, 1906. 22. Rosendahl.8 23. Moore.12 24. Davis, F. A.: Primary Tumors of the Optic Nerve (a Phenomenon of von Recklinghausen's Disease) , Arch. Ophth. 23:735 ( (April) ) 1940.Crossref 25. Zentmayer, W.: A Case of Plexiform Neurofibroma Involving the Orbit , Tr. Am. Ophth. Soc. 13:205, 1912. 26. Hosoi, K.: Multiple Neurofibromatosis (von Recklinghausen's Disease) , Arch. Surg. 22:258 ( (Feb.) ) 1931.Crossref 27. Dandy, W. E.: An Operative Treatment for Certain Cases of Meningocele (or Encephalocele) into the Orbit , Arch. Ophth. 2:123 ( (Aug.) ) 1929.Crossref 28. Anderson, J. R.: Hydrophthalmia or Congenital Glaucoma , London, Cambridge University Press, 1939, p. 166.

Journal

Archives of Neurology & PsychiatryAmerican Medical Association

Published: Mar 1, 1946

References