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Pulsating exophthalmos associated with neurofibromatosis
j. max.fiat. Surg. 12 (1984) J. max.-fac. Surg. 12 (1984) 11-13 © 1984 Georg Thieme Verlag Stuttgart - New York
Pulsating Exophthalmos Associated with Neurofibromatosis David Wiesenfeld, Patrick L. James Department of Oral and Maxillofacial Surgery, (Senior Consultant: Mr. Patrick L. James, M.R.C.S., L.R.C.P.F.D.S.R.C.S.) St. Margaret's Hopsital, Epping, England Accepted for publication 1 6 . 5 . 1983
]1
Summary A patient with pulsating exophthalmos is presented. He had facial asymmetry, multiple cutaneous caf~-au-lait spots and a subcutaneous nodule, biopsy of which showed features consistent with neurofibromatosis. Radiographs of the orbit showed a deficiency of the superolateral orbital wall, a feature previously recognized as part of neurofibromatosis. This feature probably occurs as a result of mesodermal dysplasia. The differential diagnosis and management are discussed.
Key-Words Pulsating exophthalmos - Neurofibromatosis - Von Recklinghausen's disease
Introduction Neurofibromatosis (Von Recklinghausen's) is an autosomal dominant inherited disorder (Gorlin and Pindborg, 1976) with elements of neuroectodermal dysplasia in the form of multiple neurofibromas and cutaneous pigmentation, as well as mesodermal dysplasia in the form of skeletal changes. Some of these skeletal changes have been thought due to neuroectodermal proliferation, but mesodermal dysplasia is now recognized as a basic component of the disease (Hunt and Pugh, 1961). Craniofacial bony changes are well recognized and include facial asymmetry, which may be due to hyperplasia in association with proliferation of neurofibromatous tissue (James, 1963), or hypoplasia (James and Tregidden, 1975; Koblin and Reil, 1975; Miiller and Slootweg, 1981). The hypoplastic changes may affect the mandible, maxilla, zygoma and oberlying soft tissues, suggesting that the malformation is a result of a complex developmental disorder, rather than pressure from neurofibromatous tissue. Intraosseous neurofibromas also occur within the facial bones, leading to facial deformity (M~ller and Slootweg, 1981). The middle cranial fossa may also be involved, with the absence of the posterosuperior wall of the orbit, caused by developmental defects of the sphenoid and frontal bone. In this situation the meninges are in contact with the orbital soft tissues leading to a pulsating exophthalmos (Le Wald, 1933; Rosendal, 1938; Peyton and Simmons, 1946; Hunt and Pugh, 1961). The absence of other parts of the cranium may also occur, and central neurofibromas can give rise to cranial deformity due to intracranial pressure changes. Generalized bony lesions commonly observed (Holt and Wright, 1948) include subperiosteal erosive changes, due to pressure from proliferating neurofibromatous tissue, central bony lesions, resulting from expansive growth of tissue within the medullary cavities, kyphoscoliosis and pseudoarthrosis.
tal margin without stepping and deviation of the chin to the left by one centimetre. Pulsation of the left eye was noted, as was an inferior displacement of the globe by 5 mmo (Fig. 1), fundi were normal, he had a full range of ocular movement and no diplopia. Neurological examination showed no abnormality. There were multiple caf&au-lait spots on the trunk and arms (Fig. 2), and firm 1 cm. diameter nodules were palpable in the left temple and right calf muscle. Intra-orally the right maxillary central incisor was missing, having been previously extracted, ~8 78 were also unerupted and the oral soft tissues were normal. The patient then volunteered that his ocular pulsation and displacement, and facial asymmetry had been present since childhood, although it had not been noted by anyone else. His mother suffered with multiple cutaneous nodules, however, she would not attend for examination; there were no other siblings.
Case Report A previously well nineteen-year-old male, was referred to the Department of Oral and Maxillofacial Surgery for management of facial injuries sustained the previous night, whilst a passenger in a motorcar accident. The patient was alert and orientated. He had bilateral periorbital haematomata and subconjunctival ecchymosis with posterior limit. There was facial asymetry, depression of the left infraorbi-
Fig. 1 Facial photograph of patient, demonstrating facial asymmetry and inferior displacement of left eye.
12
J. max.-fac. Surg. 12 (1984)
D. Wiesenfeld, P. L. James
L
Fig. 2 Close up view of patient's back demonstrating muttiple caf6au-tait spots.
Fig. 3 ©ccipito-mental radiograph demonstrating absence of superolateral wall of the left orbit.
Fig. 4 O.P.G. demonstrating radiolucency in the left ramus of the mandible, with rudimentary left mandibular condyle and deformed sigmoid notch.
Fig. 5 a Axial C.T. scan demonstrating lack of posterolateral wall of the left orbit, the meninges and the brain are in direct contact with the orbital contents.
Fig. 5 b left orbit.
Axial C.T. scan demonstrating bony defect involving roof of
Pulsating Exophthalmos Associated with Neurofibromatosis
J. max.-fac. Surg. 12 (1984)
]3
intracranial vascular pulsation to the globe. In the case observed there was inferior displacement of the eye presumably as a result of intracranial pressure. Radiographs and C.T. scan of the orbit demonstrated absence of part of the sphenoid and frontal bones with no evidence of bony injury. C.T. scan showed no evidence of proliferating neurofibromatous tissue causing the bony defect, which is in keeping with it being due to mesodermat dysplasia. The use of C.T. scanning for the visualization of these bony lesions, makes diagnostic surgical exploration (Hunt and Pugh, 1961) unnecessary. Oral and maxillofacial surgeons should be aware of the widespread manifestations of neurofibromatosis, which includes pulsating exophthalmos, as well as the more commonly recognized features of facial asymmetry and neurofibromatous overgrowth with the potential for malignant change. Ocular pulsation may also be found with intraorbital aneurysms and vascular anomalies; these conditions should be considered in the differential diagnosis. There is no suggestion within the literature that pulsating exophthalmos associated with neurofibromatosis is progressive or that there is any long term threat to vision. The patient remains under long term review and is unconcerned by his facial asymmetry, therefore there seems to be little indication to attempt correction of either his pulsating exophthalmos or facial asymmetry.
Acknowledgements The authors wish to acknowledge the assistance of Drs. I. G. Wylie and G. S. M. Thomson of the London Hospital, Whitechapel, in the radiological interpretation of this case, Dr. W. D. Linsell of the Herts and Essex General Hospital for histopathological interpretation and Mr. A. McKibbens for the preparation of illustrations.
Fig. 6 Numerous spindle shaped cells and nuclei interspersed with fibrous and vascular connective tissue (H + E x 100).
Investigations Radiographs of the facial bones showed no fracture. There was hypoplasia of the left zygomatic arch, part of the sphenoid bone was absent on the left side, leaving the orbital contents on that side in contact with the meninges (Fig. 3). The left mandibular ramus was hypoplastic, the condylar head rudimentary and a radiolucency was present in the ramus (Fig. 4). C.T. Scan clearly showed absence of the posterolateral and superior walls of the left orbit (Fig. 5). These radiological features were suggestive of neurofibromatosis. Incisional biopsy of the nodule from the left temple showed numerous spindle shaped cells and nuclei interspersed with a fibrous and vascular connective tissue, features consistent with neurofibromatosis (Fig. 6).
Discussion and Conclusion Pulsating exophthalmos has been long recognized as a feature of neurofibromatosis (Le Wald, 1933; Peyton and Simmons, 1946; Hunt and Pugh, 1961) although it is seldom observed. Absence of the posterosuperior wall of the orbit places the orbital contents in direct contact with the meninges. The absence of bony separation allows for transmission of
References
Gorlin, R.J., J.J. Pindborg: Syndromes of the head and neck. McGraw-Hill. New York, 1976, p. 535 Holt, J. E., M. Wright: Radiographic features of neurofibromatosis. Radiology 51 (1948) 647 Hunt, J. C., D. G. Pugh: Skeletal lesions in neurofibromatosis. Radiology 76 (1961) 1 James, P. L.: Neurofibromatosis affecting the jaws. Report of case. J.
Oral Surg. 21 (1963) 262 James, P.L., R. Tregidden: Multiple neurofibrornatosis associated with facial asymmetry. J. Oral Surg. 33 (1975) 439 Kohlin, I., B. Reil: Changes in the facial skeleton in cases of neurofibromatosis. J. Max.-fac. Surg. 3 (1975) 23 Le Wald, L.T.: Congenital absence of the superior orbital wall, associated with pulsating exophthalmos: report of four cases. Am. J. Roentgenol. 30 (1933) 756 Miiller, H., P.J. Slootweg: Maxillofacial deformities in neurofibromatosis. J. Max.-fac. Surg. 9 (1981) 89 Peyton, W. T., D. R. Simmons: Neurofibromatosis with defects in wall of orbit: report of five cases. Arch. Neurol, and Psychiat. 55 (1946) 248 Rosenclal, T.: Some cranial changes in Recklinghausen's neurofibromatosis. Acta Radiol. 19 (1938) 373 David Wiesenfeld, Patrick L..[ames, Department of Oral and Maxillofacial Surgery, St. Margare(s Hospital, Epping, England present address: 18I Commercial Road South Yarra 3141 Victoria, Australia
Pulsating Exophthalmos Associated with Neurofibromatosis David Wiesenfeld, Patrick L. James Department of Oral and Maxillofacial Surgery, (Senior Consultant: Mr. Patrick L. James, M.R.C.S., L.R.C.P.F.D.S.R.C.S.) St. Margaret's Hopsital, Epping, England Accepted for publication 1 6 . 5 . 1983
]1
Summary A patient with pulsating exophthalmos is presented. He had facial asymmetry, multiple cutaneous caf~-au-lait spots and a subcutaneous nodule, biopsy of which showed features consistent with neurofibromatosis. Radiographs of the orbit showed a deficiency of the superolateral orbital wall, a feature previously recognized as part of neurofibromatosis. This feature probably occurs as a result of mesodermal dysplasia. The differential diagnosis and management are discussed.
Key-Words Pulsating exophthalmos - Neurofibromatosis - Von Recklinghausen's disease
Introduction Neurofibromatosis (Von Recklinghausen's) is an autosomal dominant inherited disorder (Gorlin and Pindborg, 1976) with elements of neuroectodermal dysplasia in the form of multiple neurofibromas and cutaneous pigmentation, as well as mesodermal dysplasia in the form of skeletal changes. Some of these skeletal changes have been thought due to neuroectodermal proliferation, but mesodermal dysplasia is now recognized as a basic component of the disease (Hunt and Pugh, 1961). Craniofacial bony changes are well recognized and include facial asymmetry, which may be due to hyperplasia in association with proliferation of neurofibromatous tissue (James, 1963), or hypoplasia (James and Tregidden, 1975; Koblin and Reil, 1975; Miiller and Slootweg, 1981). The hypoplastic changes may affect the mandible, maxilla, zygoma and oberlying soft tissues, suggesting that the malformation is a result of a complex developmental disorder, rather than pressure from neurofibromatous tissue. Intraosseous neurofibromas also occur within the facial bones, leading to facial deformity (M~ller and Slootweg, 1981). The middle cranial fossa may also be involved, with the absence of the posterosuperior wall of the orbit, caused by developmental defects of the sphenoid and frontal bone. In this situation the meninges are in contact with the orbital soft tissues leading to a pulsating exophthalmos (Le Wald, 1933; Rosendal, 1938; Peyton and Simmons, 1946; Hunt and Pugh, 1961). The absence of other parts of the cranium may also occur, and central neurofibromas can give rise to cranial deformity due to intracranial pressure changes. Generalized bony lesions commonly observed (Holt and Wright, 1948) include subperiosteal erosive changes, due to pressure from proliferating neurofibromatous tissue, central bony lesions, resulting from expansive growth of tissue within the medullary cavities, kyphoscoliosis and pseudoarthrosis.
tal margin without stepping and deviation of the chin to the left by one centimetre. Pulsation of the left eye was noted, as was an inferior displacement of the globe by 5 mmo (Fig. 1), fundi were normal, he had a full range of ocular movement and no diplopia. Neurological examination showed no abnormality. There were multiple caf&au-lait spots on the trunk and arms (Fig. 2), and firm 1 cm. diameter nodules were palpable in the left temple and right calf muscle. Intra-orally the right maxillary central incisor was missing, having been previously extracted, ~8 78 were also unerupted and the oral soft tissues were normal. The patient then volunteered that his ocular pulsation and displacement, and facial asymmetry had been present since childhood, although it had not been noted by anyone else. His mother suffered with multiple cutaneous nodules, however, she would not attend for examination; there were no other siblings.
Case Report A previously well nineteen-year-old male, was referred to the Department of Oral and Maxillofacial Surgery for management of facial injuries sustained the previous night, whilst a passenger in a motorcar accident. The patient was alert and orientated. He had bilateral periorbital haematomata and subconjunctival ecchymosis with posterior limit. There was facial asymetry, depression of the left infraorbi-
Fig. 1 Facial photograph of patient, demonstrating facial asymmetry and inferior displacement of left eye.
12
J. max.-fac. Surg. 12 (1984)
D. Wiesenfeld, P. L. James
L
Fig. 2 Close up view of patient's back demonstrating muttiple caf6au-tait spots.
Fig. 3 ©ccipito-mental radiograph demonstrating absence of superolateral wall of the left orbit.
Fig. 4 O.P.G. demonstrating radiolucency in the left ramus of the mandible, with rudimentary left mandibular condyle and deformed sigmoid notch.
Fig. 5 a Axial C.T. scan demonstrating lack of posterolateral wall of the left orbit, the meninges and the brain are in direct contact with the orbital contents.
Fig. 5 b left orbit.
Axial C.T. scan demonstrating bony defect involving roof of
Pulsating Exophthalmos Associated with Neurofibromatosis
J. max.-fac. Surg. 12 (1984)
]3
intracranial vascular pulsation to the globe. In the case observed there was inferior displacement of the eye presumably as a result of intracranial pressure. Radiographs and C.T. scan of the orbit demonstrated absence of part of the sphenoid and frontal bones with no evidence of bony injury. C.T. scan showed no evidence of proliferating neurofibromatous tissue causing the bony defect, which is in keeping with it being due to mesodermat dysplasia. The use of C.T. scanning for the visualization of these bony lesions, makes diagnostic surgical exploration (Hunt and Pugh, 1961) unnecessary. Oral and maxillofacial surgeons should be aware of the widespread manifestations of neurofibromatosis, which includes pulsating exophthalmos, as well as the more commonly recognized features of facial asymmetry and neurofibromatous overgrowth with the potential for malignant change. Ocular pulsation may also be found with intraorbital aneurysms and vascular anomalies; these conditions should be considered in the differential diagnosis. There is no suggestion within the literature that pulsating exophthalmos associated with neurofibromatosis is progressive or that there is any long term threat to vision. The patient remains under long term review and is unconcerned by his facial asymmetry, therefore there seems to be little indication to attempt correction of either his pulsating exophthalmos or facial asymmetry.
Acknowledgements The authors wish to acknowledge the assistance of Drs. I. G. Wylie and G. S. M. Thomson of the London Hospital, Whitechapel, in the radiological interpretation of this case, Dr. W. D. Linsell of the Herts and Essex General Hospital for histopathological interpretation and Mr. A. McKibbens for the preparation of illustrations.
Fig. 6 Numerous spindle shaped cells and nuclei interspersed with fibrous and vascular connective tissue (H + E x 100).
Investigations Radiographs of the facial bones showed no fracture. There was hypoplasia of the left zygomatic arch, part of the sphenoid bone was absent on the left side, leaving the orbital contents on that side in contact with the meninges (Fig. 3). The left mandibular ramus was hypoplastic, the condylar head rudimentary and a radiolucency was present in the ramus (Fig. 4). C.T. Scan clearly showed absence of the posterolateral and superior walls of the left orbit (Fig. 5). These radiological features were suggestive of neurofibromatosis. Incisional biopsy of the nodule from the left temple showed numerous spindle shaped cells and nuclei interspersed with a fibrous and vascular connective tissue, features consistent with neurofibromatosis (Fig. 6).
Discussion and Conclusion Pulsating exophthalmos has been long recognized as a feature of neurofibromatosis (Le Wald, 1933; Peyton and Simmons, 1946; Hunt and Pugh, 1961) although it is seldom observed. Absence of the posterosuperior wall of the orbit places the orbital contents in direct contact with the meninges. The absence of bony separation allows for transmission of
References
Gorlin, R.J., J.J. Pindborg: Syndromes of the head and neck. McGraw-Hill. New York, 1976, p. 535 Holt, J. E., M. Wright: Radiographic features of neurofibromatosis. Radiology 51 (1948) 647 Hunt, J. C., D. G. Pugh: Skeletal lesions in neurofibromatosis. Radiology 76 (1961) 1 James, P. L.: Neurofibromatosis affecting the jaws. Report of case. J.
Oral Surg. 21 (1963) 262 James, P.L., R. Tregidden: Multiple neurofibrornatosis associated with facial asymmetry. J. Oral Surg. 33 (1975) 439 Kohlin, I., B. Reil: Changes in the facial skeleton in cases of neurofibromatosis. J. Max.-fac. Surg. 3 (1975) 23 Le Wald, L.T.: Congenital absence of the superior orbital wall, associated with pulsating exophthalmos: report of four cases. Am. J. Roentgenol. 30 (1933) 756 Miiller, H., P.J. Slootweg: Maxillofacial deformities in neurofibromatosis. J. Max.-fac. Surg. 9 (1981) 89 Peyton, W. T., D. R. Simmons: Neurofibromatosis with defects in wall of orbit: report of five cases. Arch. Neurol, and Psychiat. 55 (1946) 248 Rosenclal, T.: Some cranial changes in Recklinghausen's neurofibromatosis. Acta Radiol. 19 (1938) 373 David Wiesenfeld, Patrick L..[ames, Department of Oral and Maxillofacial Surgery, St. Margare(s Hospital, Epping, England present address: 18I Commercial Road South Yarra 3141 Victoria, Australia