- Email: [email protected]
Cervical spinal cord compression due to an osteochondroma in hereditary multiple exostosis: case report and review of the literature
Surgical Neurology 66 (2006) S3:7 – S3:11 www.surgicalneurology-online.com
Spine
Cervical spinal cord compression due to an osteochondroma in hereditary multiple exostosis: case report and review of the literature Miguel Giudicissi-Filho, MD, Carlos Vanderlei M. de Holanda, MD, Luis Alencar B. Borba, MD, Aziz Rassi-Neto, MD, Carlos Alberto A. Ribeiro, MD, Jean Gonc¸alves de Oliveira, MD4 Department of Neurosurgery, Center of Neurology and Neurosurgery Associates (CENNA), Hospital Beneficeˆncia Portuguesa de Sa˜o Paulo, Sa˜o Paulo-SP, 01323-030 Brazil Received 9 May 2006; accepted 20 May 2006
Abstract
Background: Hereditary multiple exostosis is a benign disorder characterized by multiple osteochondromas affecting long and flat bones, although occasionally vertebral column involvement can be seen. Cervical spinal cord compression in HME is a rare condition. The objective of this manuscript is to describe a rare case of cervical myelopathy due to an exostosis arising from C7 in a patient with HME and a comprehensive review of the current literature. Case Description: We describe a case of HME in an 18-year-old girl with myelopathy characterized by quadriparesis due to an osteochondroma arising from the lamina of C7. The patient underwent surgery, and a laminectomy was performed with a complete removal of the exostosis and spinal cord decompression. One month after surgery, patient presented an excellent recovery without neurologic deficits. Conclusions: Cervical spinal cord compression resulting from osteochondroma is an extremely serious complication of HME. Neurosurgical approach should be recommended in order to achieve a spinal cord decompression, which usually results in excellent functional recovery. D 2006 Elsevier Inc. All rights reserved.
Keywords:
Cervical myelopathy; Diaphyseal aclasis; Exostoses; Hereditary multiple exostosis; Osteochondroma; Ehrenfried disease
1. Introduction Hereditary multiple exostosis is the most common form of bone dysplasia [4,20,31,44]. This entity is also known as diaphyseal aclasis, hereditary deforming chondrodysplasia, multiple hereditary exostoses, multiple osteochondromatosis, multiple cartilaginous exostosis, dyschondroplasia, and Ehrenfried disease [4,20,31]. It is an inherited autosomal dominant disease with predominance in males [2,10] and a benign condition characterized by the presence of multiple exostosis or osteochondromas arising from long and flat bones [4,17,28,44]. However, spinal cord compression
Abbreviations: HME, hereditary multiple exostosis; C2, axis. 4 Corresponding author. Rua Sena Madureira, Sa˜o Paulo-SP 04021051, Brasil. Tel.: +55 11 55718432; fax: +55 11 32666296. E-mail address: [email protected] (J.G. de Oliveira). 0090-3019/$ – see front matter D 2006 Elsevier Inc. All rights reserved. doi:10.1016/j.surneu.2006.05.057
resulting from vertebral osteochondroma is a rare complication [2,9,18,28,43,44]. The authors describe a case report of cervical myelopathy due to an exostosis arising from C7 in a patient with HME and a review of the literature.
2. Case report An 18-year-old white girl was admitted with complaints of progressive weakness in the lower limbs, which had developed during a period of 6 months. She walked with difficulty and her neurologic deficit worsened dramatically over the 4 weeks before the admission. She became confined to a wheelchair. On physical examination, she had multiple palpable exostosis over the bones of her limbs (Fig. 1), and the diagnosis of HME was made in spite of the absence of family history. Neurologic examination revealed a severe
S3:8
M. Giudicissi-Filho et al. / Surgical Neurology 66 (2006) S3:7 – S3:11
Fig. 1. X-ray film of lower limbs showing exostosis (arrows).
quadriparesis, bilateral hyperactive deep tendon reflexes in both legs, and spontaneous bilateral Babinski responses (Fig. 2). She had no sensory deficit. Plain x-ray films of the upper cervical spine demonstrated a narrowed spinal canal at C7, caused by a large spherical bone lesion arising from the lamina of that vertebra. Myelography confirmed the presence of an extradural mass causing a block at C7 level (Fig. 3). Computed tomographic scans revealed an exophytic lesion arising from the C7 lamina, occupying part of the spinal canal and compressing the spinal cord (Fig. 4). Unfortunately, at that time there was no magnetic resonance imaging available at the hospital where the patient was treated. The patient underwent a cervical laminectomy (Fig. 5). The operative findings showed an atrophic spinal cord that
Fig. 2. Spontaneous bilateral Babinski sign.
Fig. 3. Myelography showing an extradural mass causing a block at C7 level.
was displaced posterolaterally by the exophytic bone lesion arising from the lamina of C7, which was totally removed. The histopathological examination confirmed the lesion to be an osteochondroma. The postoperative period was uneventful with an immediate improvement of the motor function. There was a progressive neurologic recovery and return to normal function. The patient was discharged by the 12th day and was walking normally 30 days after surgery.
Fig. 4. Computed tomographic scan showing an exophytic lesion arising from the C7 lamina, occupying part of the spinal canal and compressing the spinal cord.
M. Giudicissi-Filho et al. / Surgical Neurology 66 (2006) S3:7 – S3:11
Fig. 5. Intraoperative aspect of the exophytic bone lesion (arrow) arising from the lamina of C7.
After 18 months of follow up, the patient presents without neurologic deficit.
3. Discussion Some authors credit the first description of HME to Boyer in 1814 [2,20,41,44]. This entity is characterized by anomalous bone development with osteocartilaginous exostosis usually in the metaphysis of the long and flat bones [18,44]. These exostosis, also called osteochondromas, originate from within the periosteum and grow progressively by endochondral bone formation [11]. Histologically, the exostosis consist of normal cortical bone capped by hyaline cartilage [9,18]. Malignant transformation may occur in up to 20% of patients with HME [14,19]. The recognition of an inheritance factor in HME dates from the description by Stanley in 1849, and the hereditary nature of this entity was shown by Stocks and Barrington in 1929, who found a family history in 64% of 1124 cases [14]. It is a genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance [18,41]. Heredity is manifested in nearly two thirds of all cases [2,14,20]. The number of exostosis tends to increase from generation to generation [9,18]. Some authors describe a predilection for the male sex in hereditary cases [2,9,13,14,44], whereas Solomon [41] found no significant difference in sex. The actively growing cartilaginous cap increases in size during normal bone growth in both childhood and adoles-
S3:9
cence, and growth ceases with skeletal maturation [2,9,42]. Most symptoms arise in the second and third decades of life [28,33,44]. Associated deformities can accompany patients with HME, specially short stature, as a result of shortening and bowing of the legs or scoliosis [18]. Hereditary multiple exostosis often presents neurologic deficits because of direct compression of a peripheral nerve, nerve root, or rarely, the spinal cord [20,24,38,44]. Spinal involvement of solitary osteochondromas, which have no genetic influence, is between 1% and 4% [8,33,41], whereas in patients with HME, the involvement of the vertebra column occurs in approximately 7% [6] to 9% [41], and 50% of the cases arise from the cervical spine [20]. In the vertebral column, exostosis usually arise from the posterior elements, where the secondary centers of ossification are found [13,29]. Reid [32] in 1843 was the first to describe a case of myelopathy associated to HME. Ochsner and Rothstein [27] in 1907 described the first case of a cervical myelopathy due to HME, which was treated surgically by decompression. A review of the literature revealed 44 cases, including our case, of cervical myelopathy resulting from hereditary multiple exostosis (Table 1). The age of the patients ranged from 7 to 58 years, and most patients were up to 30 years of age (average age, 21.5). Most patients were male (68%) (male-female ratio, 30/14). A family history was positive in 26 (70%) out of 37 documented cases. The C2 was the most attacked level (41%) and arose from the lamina and/or pedicle in 61% of the cases. Duration of symptoms ranged from acute (b 1 month) to 9 years. There were 3 cases where the symptoms appeared acutely, and 2 of them died [36,39], suggesting that the prognosis with acute symptoms is worse. Of the 40 patients submitted to surgery, outcome was registered in 39, where all except the patient reported by Sing et al [39], whose condition was acute, made a good recovery or had improvement. Laminectomy was the most common technique performed. To avoid postlaminectomy kyphosis, Oga et al [28] recommend laminotomy, whereas others recommend anterior [11] or posterior [4] stabilization and fusion technique, in spite of the risks of cervical spinal fusion in young patients. In all four cases where no surgery was performed, the outcome was death [7,26,32,36]. 4. Conclusions Although cervical myelopathy due to osteochondroma is an uncommon condition, in patients with HME, it can result in serious neurologic sequelae. Therefore, a neuroradiological investigation, in order to diagnosis the correct level, is important to plan and perform a complete removal of the exostosis. The neurosurgical approach, as a single laminectomy, usually results in excellent neurologic recovery, as we realized in our case and in others published in the literature.
S3:10
M. Giudicissi-Filho et al. / Surgical Neurology 66 (2006) S3:7 – S3:11
Table 1 Reported cases of cervical spinal cord compression in hereditary multiple exostosis Author (reference)
Year
Age
Gender
Familiar history
Level
Origin
Duration of symptoms
Surgery
Outcome
Reid [32] Ochsner and Rothstein [27] Oberndorf [26] Slepian and Hamby [40] Rose and Fekete [36] Carmel and Cramer [6] Chiurco [7] Sawada [37] Vinstein and Franken [43] Madigan et al. [19] Blaauw [5] Jorge Facure et al. [16] Roman [35] Ferrari et al. [12] Singh et al. [39] Palmer and Blum [31] Misra et al. [21] Omori et al. [30] O’Connor and Roberts [25] Gottlieb et al. [13] Johnston and Sklar [15] Wen et al. [44] Tully et al. [42] Shapiro et al. [38] Nunez et al. [24] Anton et al. [1] Moriwaka et al. [23] Bhojraj and Panjwani [4] Eder et al. [10] Barros Filho et al. [3] Atabay et al. [2] Labram and Mohan [18] Labram and Mohan [18] Robbins et al. [33] Robbins et al. [33] Ergun et al. [11] Mikawa et al. [20] Oga et al. [28] Cirak et al. [9] Korinth et al. [17] Rohde et al. [34] Chooi et al. [8] Miyamoto et al. [22] Giudicissi-Filho et al.
1843 1907 1910 1951 1964 1968 1970 1970 1971 1974 1975 1975 1978 1979 1980 1980 1983 1983 1984 1986 1988 1989 1989 1990 1990 1990 1990 1993 1993 1995 1996 1996 1996 1996 1996 1997 1997 2000 2002 2004 2004 2005 2005 2006
30 23 19 33 58 13 16 18 14 7 39 15 37 23 29 22 25 22 24 31 15 23 12 11 15 15 9 14 7 16 17 9 45 39 15 16 17 13 52 12 12 23 23 18
Male Male Male Male Female Female Male Male Female Female Male Male Male Male Female Male Male Male Female Male Male Female Female Male Male Female Male Female Female Female Male Male Male Male Male Male Male Male Male Male Male Female Male Female
NR NO NO YES NR YES NO YES NO YES NR NO YES YES YES NO NO NO YES YES YES YES YES YES YES YES NO NR YES YES YES YES NR YES YES YES NO YES YES NR YES YES NR NO
C2 C2 C3 C5-6 C1 C2 C0 C4 C2 C2 C7 C2 C7 C2 C5 C6 C4 C2 C5 C4 C2 C1 C5 C2 C2 C6 C7-T1 C3 C2 C1 C2-4 C2 C5 C5 C3 C5-6 C7 C3 C2 C2 C2 C1 C2 C7
Lamina Lamina NR Articular mass Odontoid Lamina/Pedicle Occipital bone Lamina Lamina Lamina Lamina Lamina Body Lamina Lamina/Pedicle Body Lamina Lamina Lamina Lamina Lamina Arch Body Lamina Posterior arch Lamina Pedicle/body Lamina Posterior arch Anterior arch Lamina Lamina Lamina Lamina Lamina Pedicle/joint Lamina/Pedicle Lamina Body Posterior arch Lamina Posterior arch Pedicle Lamina
7 Mos 9 Yrs 3 Yrs 9 Mos Acute 4 Mos 3 Yrs 8 Mos 4 Yrs 2 Mos NR 5 Mos 1 Yr 1 Yr Acute 6 Mos 5 Mos 3 Mos 1 Yr 16 Yrs 3 Mos Acute 5 Yrs 9 Mos 4 Mos 1 Mo 1 Mo 4 Mos 1 Yr 9 Yrs 2 Mos 11 Mos 5 Mos 3 Yrs 18 Mos 9 Yrs 1 Mo 9 Yrs NR 9 Mos NR 6 Mos NR 6 Mos
NO YES NO YES NO YES NO YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES
Died Improved Died Good Died Good Died Good Good Good NR Good Good Good Died Good Good Good Good Improved Good Good Improved Good Good NR Good Good Improved Good Good Good Good Improved Good Good Good Good Good Good Good Good Good Good
NR, not related.
In addition, based on the presented case and literature review, in cases of acute or chronic spinal cord compression, prophylactic surgery for asymptomatic patients with HME may be an option to avoid extremely serious neurologic sequelae or even death.
References [1] Anton J, Sainz C, Perez E, Moreno L, Ojeda J. Compresion medular a nivel de C6 como primer signo de exostosis multiple hereditaria. Rev Clin Esp 1990;186(2):88 - 90. [2] Atabay H, Kuyucu Y, Korkmaz O, Iplikcioglu AC. Myelopathy due to hereditary multiple exostoses: CT and MR studies. Clin Neurol Neurosurg 1996;98(2):186 - 8.
[3] Barros Filho TE, Oliveira RP, Taricco MA, Gonzalez CH. Hereditary multiple exostoses and cervical ventral protuberance causing dysphagia. A case report. Spine 1995;20(14):1640 - 2. [4] Bhojraj SY, Panjwani JS. A new management approach to decompression, posterior stabilization, and fusion for cervical laminar exostosis with cord compression in a case of diaphyseal aclasis. Case report and review of the literature. Spine 1993;18(10):1376 - 9. [5] Blaauw G. Osteocartilaginous exostosis of the spine. In: Vinken PJ, Bruyn GW, editors. Handbook of clinical neurology, vol. 19. Amsterdam7 North Holland Publishing; 1975. p. 313 - 9. [6] Carmel PW, Cramer FJ. Cervical cord compression due to exostosis in a patient with hereditary multiple exostoses. Case report. J Neurosurg 1968;28(5):500 - 3. [7] Chiurco AA. Multiple exostoses of bone with fatal spinal cord compression; report of a case and brief review of the literature. Neurology 1970;20(3):275 - 8.
M. Giudicissi-Filho et al. / Surgical Neurology 66 (2006) S3:7 – S3:11 [8] Chooi YS, Siow YS, Chong CS. Cervical myelopathy caused by an exostosis of the posterior arch of C1. J Bone Joint Surg Br 2005;87(2):257- 9. [9] Cirak B, Karabulut N, Palaoglu S. Cervical osteochondroma as a cause of spinal cord compression in a patient with hereditary multiple exostoses: Computed tomography and magnetic resonance imaging findings. Australas Radiol 2002;46(3):309 - 11. [10] Eder HG, Oberbauer RW, Ranner G. Cervical cord compression in hereditary multiple exostoses. J Neurosurg Sci 1993;37(1):53 - 6. [11] Ergun R, Okten AI, Beskonakli E, Akdemir G, Taskin Y. Cervical laminar exostosis in multiple hereditary osteochondromatosis: anterior stabilization and fusion technique for preventing instability. Eur Spine J 1997;6(4):267 - 9. [12] Ferrari G, Taddei L, Vivenza C, Rossi G. Paraparesis in hereditary multiple exostoses: case report. Neurology 1979;29(7):973 - 7. [13] Gottlieb A, Severi P, Ruelle A, Lasio G. Exostosis as a cause of spinal cord compression. Surg Neurol 1986;26(6):581 - 4. [14] Jaffe HL. Hereditary multiple exostosis. Arch Pathol 1943;36:335 - 57. [15] Johnston II CE, Sklar F. Multiple hereditary exostoses with spinal cord compression. Orthopedics 1988;11(8):1213 - 6. [16] Jorge Facure J, Facure NO, Castro LF. Exostose multipla hereditaria com compressao medular. Arq Neuropsiquiatr 1975;33(2):151 - 5. [17] Korinth MC, Ramaekers VT, Rohde V. Cervical cord exostosis compressing the axis in a boy with hereditary multiple exostoses. Case illustration. J Neurosurg 2004;100(2 Suppl Pediatrics):223. [18] Labram EK, Mohan J. Diaphyseal aclasis with spinal cord compression. Report of two cases and review of the literature. J Neurosurg 1996;84(3):518 - 21. [19] Madigan R, Worrall T, McClain EJ. Cervical cord compression in hereditary multiple exostosis. Review of the literature and report of a case. J Bone Joint Surg Am 1974;56(2):401 - 4. [20] Mikawa Y, Watanabe R, Nakashima Y, Hayashida T. Cervical spinal cord compression in hereditary multiple exostoses. Report of a case and a review of the literature. Arch Orthop Trauma Surg 1997;116(1-2):112 - 5. [21] Misra UK, Nag D, Dave VS, Shukla R, Kar AM. Cervical cord compression due to chondromatous change in a patient with metaphysial aclasis. J Neurol Neurosurg Psychiatry 1983;46(12):1155 - 7. [22] Miyamoto K, Sakaguchi Y, Hosoe H, et al. Tetraparesis due to exostotic osteochondroma at upper cervical cord in a patient with multiple exostoses-mental retardation syndrome (Langer-Giedion syndrome). Spinal Cord 2005;43(3):190 - 4. [23] Moriwaka F, Hozen H, Nakane K, Sasaki H, Tashiro K, Abe H. Myelopathy due to osteochondroma: MR and CT studies. J Comput Assist Tomogr 1990;14(1):128 - 30. [24] Nunez DA, Graham HK, Fixsen JA. Cervical cord compression and femoral neuropathy in hereditary multiple exostoses. J Neurol Neurosurg Psychiatry 1990;53(5):439. [25] O’Connor GA, Roberts TS. Spinal cord compression by an osteochondroma in a patient with multiple osteochondromatosis. Case report. J Neurosurg 1984;60(2):420 - 3.
S3:11
[26] Oberndorf CP. A case of multiple exostoses coupled with syringomyelia. NY Med J 1910;91:479 - 83. [27] Ochsner EH, Rothstein T. Multiple exostoses including an exostosis within the spinal canal with surgical and neurological observations. Ann Surg 1907;46:608 - 16. [28] Oga M, Nakatani F, Ikuta K, Tamaru T, Arima J, Tomishige M. Treatment of cervical cord compression, caused by hereditary multiple exostosis, with laminoplasty: a case report. Spine 2000;25(10):1290 - 2. [29] Old WL, Triplett JN. Osteochondroma with thoracic cord compression in hereditary multiple exostoses: a case report. Virginia Med 1979;106: 303 - 6. [30] Omori M, Sakate Y, Tamura Y, Katayama M, Furukawa Y, Saito S. Cervical and compression due to exostosis in a patient with multiple exostosis: a case report. Seikei Geka 1983;34:1354 - 8. [31] Palmer FJ, Blum PW. Osteochondroma with spinal cord compression: report of three cases. J Neurosurg 1980;52(6):842 - 5. [32] Reid J. Case of disease of the spinal cord from an exostosis of the second cervical vertebra. Lond Edinb Mon J Med Sci 1843;3:194 - 8. [33] Robbins SE, Laitt RD, Lewis T. Hereditary spinal osteochondromas in diaphyseal aclasia. Neuroradiology 1996;38(1):59 - 61. [34] Rohde V, Reinacher P, Patz E, Sellhaus B, Gilsbach JM. Spinal cord compression by a cervical oseteocartilaginous exostosis: surgical strategy aspects. Z Orthop Ihre Grenzgeb 2004;142(2):179 - 83. [35] Roman G. Hereditary multiple exostoses. A rare cause of spinal cord compression. Spine 1978;3(3):230 - 3. [36] Rose EF, Fekete A. Odontoid osteochondroma causing sudden death. Am J Clin Pathol 1964;42:606 - 9. [37] Sawada M. Case report of hereditary multiple exostosis with symptoms of cervical spinal cord compression. Seikei Geka 1970;21(4):287 - 90. [38] Shapiro SA, Javid T, Putty T. Osteochondroma with cervical cord compression in hereditary multiple exostoses. Spine 1990;15(6):600 - 2. [39] Singh DS, Rao SS, Sharma S, Srivastava KK, Yadav SS. Cervical cord compression from multiple hereditary exostoses. J Assoc Physicians India 1980;28(12):535 - 7. [40] Slepian A, Hamby WB. Neurologic complications associated with hereditary deformity chondrodysplasia. Review of the literature and a report on two cases occurring in the same family. J Neurosurg 1951;8: 529 - 35. [41] Solomon L. Hereditary multiple exostosis. Am Hum Genet 1964;16: 351 - 63. [42] Tully RJ, Pickens J, Oro J, Levine C. Hereditary multiple exostoses and cervical cord compression: CT and MR studies. J Comput Assist Tomogr 1989;13(2):330 - 3. [43] Vinstein AL, Franken Jr EA. Hereditary multiple exostoses. Report of a case with spinal cord compression. Am J Roentgenol Radium Ther Nucl Med 1971;112(2):405 - 7. [44] Wen DY, Bergman TA, Haines SJ. Acute cervical myelopathy from hereditary multiple exostoses: case report. Neurosurgery 1989;25(3): 472 - 5.
Spine
Cervical spinal cord compression due to an osteochondroma in hereditary multiple exostosis: case report and review of the literature Miguel Giudicissi-Filho, MD, Carlos Vanderlei M. de Holanda, MD, Luis Alencar B. Borba, MD, Aziz Rassi-Neto, MD, Carlos Alberto A. Ribeiro, MD, Jean Gonc¸alves de Oliveira, MD4 Department of Neurosurgery, Center of Neurology and Neurosurgery Associates (CENNA), Hospital Beneficeˆncia Portuguesa de Sa˜o Paulo, Sa˜o Paulo-SP, 01323-030 Brazil Received 9 May 2006; accepted 20 May 2006
Abstract
Background: Hereditary multiple exostosis is a benign disorder characterized by multiple osteochondromas affecting long and flat bones, although occasionally vertebral column involvement can be seen. Cervical spinal cord compression in HME is a rare condition. The objective of this manuscript is to describe a rare case of cervical myelopathy due to an exostosis arising from C7 in a patient with HME and a comprehensive review of the current literature. Case Description: We describe a case of HME in an 18-year-old girl with myelopathy characterized by quadriparesis due to an osteochondroma arising from the lamina of C7. The patient underwent surgery, and a laminectomy was performed with a complete removal of the exostosis and spinal cord decompression. One month after surgery, patient presented an excellent recovery without neurologic deficits. Conclusions: Cervical spinal cord compression resulting from osteochondroma is an extremely serious complication of HME. Neurosurgical approach should be recommended in order to achieve a spinal cord decompression, which usually results in excellent functional recovery. D 2006 Elsevier Inc. All rights reserved.
Keywords:
Cervical myelopathy; Diaphyseal aclasis; Exostoses; Hereditary multiple exostosis; Osteochondroma; Ehrenfried disease
1. Introduction Hereditary multiple exostosis is the most common form of bone dysplasia [4,20,31,44]. This entity is also known as diaphyseal aclasis, hereditary deforming chondrodysplasia, multiple hereditary exostoses, multiple osteochondromatosis, multiple cartilaginous exostosis, dyschondroplasia, and Ehrenfried disease [4,20,31]. It is an inherited autosomal dominant disease with predominance in males [2,10] and a benign condition characterized by the presence of multiple exostosis or osteochondromas arising from long and flat bones [4,17,28,44]. However, spinal cord compression
Abbreviations: HME, hereditary multiple exostosis; C2, axis. 4 Corresponding author. Rua Sena Madureira, Sa˜o Paulo-SP 04021051, Brasil. Tel.: +55 11 55718432; fax: +55 11 32666296. E-mail address: [email protected] (J.G. de Oliveira). 0090-3019/$ – see front matter D 2006 Elsevier Inc. All rights reserved. doi:10.1016/j.surneu.2006.05.057
resulting from vertebral osteochondroma is a rare complication [2,9,18,28,43,44]. The authors describe a case report of cervical myelopathy due to an exostosis arising from C7 in a patient with HME and a review of the literature.
2. Case report An 18-year-old white girl was admitted with complaints of progressive weakness in the lower limbs, which had developed during a period of 6 months. She walked with difficulty and her neurologic deficit worsened dramatically over the 4 weeks before the admission. She became confined to a wheelchair. On physical examination, she had multiple palpable exostosis over the bones of her limbs (Fig. 1), and the diagnosis of HME was made in spite of the absence of family history. Neurologic examination revealed a severe
S3:8
M. Giudicissi-Filho et al. / Surgical Neurology 66 (2006) S3:7 – S3:11
Fig. 1. X-ray film of lower limbs showing exostosis (arrows).
quadriparesis, bilateral hyperactive deep tendon reflexes in both legs, and spontaneous bilateral Babinski responses (Fig. 2). She had no sensory deficit. Plain x-ray films of the upper cervical spine demonstrated a narrowed spinal canal at C7, caused by a large spherical bone lesion arising from the lamina of that vertebra. Myelography confirmed the presence of an extradural mass causing a block at C7 level (Fig. 3). Computed tomographic scans revealed an exophytic lesion arising from the C7 lamina, occupying part of the spinal canal and compressing the spinal cord (Fig. 4). Unfortunately, at that time there was no magnetic resonance imaging available at the hospital where the patient was treated. The patient underwent a cervical laminectomy (Fig. 5). The operative findings showed an atrophic spinal cord that
Fig. 2. Spontaneous bilateral Babinski sign.
Fig. 3. Myelography showing an extradural mass causing a block at C7 level.
was displaced posterolaterally by the exophytic bone lesion arising from the lamina of C7, which was totally removed. The histopathological examination confirmed the lesion to be an osteochondroma. The postoperative period was uneventful with an immediate improvement of the motor function. There was a progressive neurologic recovery and return to normal function. The patient was discharged by the 12th day and was walking normally 30 days after surgery.
Fig. 4. Computed tomographic scan showing an exophytic lesion arising from the C7 lamina, occupying part of the spinal canal and compressing the spinal cord.
M. Giudicissi-Filho et al. / Surgical Neurology 66 (2006) S3:7 – S3:11
Fig. 5. Intraoperative aspect of the exophytic bone lesion (arrow) arising from the lamina of C7.
After 18 months of follow up, the patient presents without neurologic deficit.
3. Discussion Some authors credit the first description of HME to Boyer in 1814 [2,20,41,44]. This entity is characterized by anomalous bone development with osteocartilaginous exostosis usually in the metaphysis of the long and flat bones [18,44]. These exostosis, also called osteochondromas, originate from within the periosteum and grow progressively by endochondral bone formation [11]. Histologically, the exostosis consist of normal cortical bone capped by hyaline cartilage [9,18]. Malignant transformation may occur in up to 20% of patients with HME [14,19]. The recognition of an inheritance factor in HME dates from the description by Stanley in 1849, and the hereditary nature of this entity was shown by Stocks and Barrington in 1929, who found a family history in 64% of 1124 cases [14]. It is a genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance [18,41]. Heredity is manifested in nearly two thirds of all cases [2,14,20]. The number of exostosis tends to increase from generation to generation [9,18]. Some authors describe a predilection for the male sex in hereditary cases [2,9,13,14,44], whereas Solomon [41] found no significant difference in sex. The actively growing cartilaginous cap increases in size during normal bone growth in both childhood and adoles-
S3:9
cence, and growth ceases with skeletal maturation [2,9,42]. Most symptoms arise in the second and third decades of life [28,33,44]. Associated deformities can accompany patients with HME, specially short stature, as a result of shortening and bowing of the legs or scoliosis [18]. Hereditary multiple exostosis often presents neurologic deficits because of direct compression of a peripheral nerve, nerve root, or rarely, the spinal cord [20,24,38,44]. Spinal involvement of solitary osteochondromas, which have no genetic influence, is between 1% and 4% [8,33,41], whereas in patients with HME, the involvement of the vertebra column occurs in approximately 7% [6] to 9% [41], and 50% of the cases arise from the cervical spine [20]. In the vertebral column, exostosis usually arise from the posterior elements, where the secondary centers of ossification are found [13,29]. Reid [32] in 1843 was the first to describe a case of myelopathy associated to HME. Ochsner and Rothstein [27] in 1907 described the first case of a cervical myelopathy due to HME, which was treated surgically by decompression. A review of the literature revealed 44 cases, including our case, of cervical myelopathy resulting from hereditary multiple exostosis (Table 1). The age of the patients ranged from 7 to 58 years, and most patients were up to 30 years of age (average age, 21.5). Most patients were male (68%) (male-female ratio, 30/14). A family history was positive in 26 (70%) out of 37 documented cases. The C2 was the most attacked level (41%) and arose from the lamina and/or pedicle in 61% of the cases. Duration of symptoms ranged from acute (b 1 month) to 9 years. There were 3 cases where the symptoms appeared acutely, and 2 of them died [36,39], suggesting that the prognosis with acute symptoms is worse. Of the 40 patients submitted to surgery, outcome was registered in 39, where all except the patient reported by Sing et al [39], whose condition was acute, made a good recovery or had improvement. Laminectomy was the most common technique performed. To avoid postlaminectomy kyphosis, Oga et al [28] recommend laminotomy, whereas others recommend anterior [11] or posterior [4] stabilization and fusion technique, in spite of the risks of cervical spinal fusion in young patients. In all four cases where no surgery was performed, the outcome was death [7,26,32,36]. 4. Conclusions Although cervical myelopathy due to osteochondroma is an uncommon condition, in patients with HME, it can result in serious neurologic sequelae. Therefore, a neuroradiological investigation, in order to diagnosis the correct level, is important to plan and perform a complete removal of the exostosis. The neurosurgical approach, as a single laminectomy, usually results in excellent neurologic recovery, as we realized in our case and in others published in the literature.
S3:10
M. Giudicissi-Filho et al. / Surgical Neurology 66 (2006) S3:7 – S3:11
Table 1 Reported cases of cervical spinal cord compression in hereditary multiple exostosis Author (reference)
Year
Age
Gender
Familiar history
Level
Origin
Duration of symptoms
Surgery
Outcome
Reid [32] Ochsner and Rothstein [27] Oberndorf [26] Slepian and Hamby [40] Rose and Fekete [36] Carmel and Cramer [6] Chiurco [7] Sawada [37] Vinstein and Franken [43] Madigan et al. [19] Blaauw [5] Jorge Facure et al. [16] Roman [35] Ferrari et al. [12] Singh et al. [39] Palmer and Blum [31] Misra et al. [21] Omori et al. [30] O’Connor and Roberts [25] Gottlieb et al. [13] Johnston and Sklar [15] Wen et al. [44] Tully et al. [42] Shapiro et al. [38] Nunez et al. [24] Anton et al. [1] Moriwaka et al. [23] Bhojraj and Panjwani [4] Eder et al. [10] Barros Filho et al. [3] Atabay et al. [2] Labram and Mohan [18] Labram and Mohan [18] Robbins et al. [33] Robbins et al. [33] Ergun et al. [11] Mikawa et al. [20] Oga et al. [28] Cirak et al. [9] Korinth et al. [17] Rohde et al. [34] Chooi et al. [8] Miyamoto et al. [22] Giudicissi-Filho et al.
1843 1907 1910 1951 1964 1968 1970 1970 1971 1974 1975 1975 1978 1979 1980 1980 1983 1983 1984 1986 1988 1989 1989 1990 1990 1990 1990 1993 1993 1995 1996 1996 1996 1996 1996 1997 1997 2000 2002 2004 2004 2005 2005 2006
30 23 19 33 58 13 16 18 14 7 39 15 37 23 29 22 25 22 24 31 15 23 12 11 15 15 9 14 7 16 17 9 45 39 15 16 17 13 52 12 12 23 23 18
Male Male Male Male Female Female Male Male Female Female Male Male Male Male Female Male Male Male Female Male Male Female Female Male Male Female Male Female Female Female Male Male Male Male Male Male Male Male Male Male Male Female Male Female
NR NO NO YES NR YES NO YES NO YES NR NO YES YES YES NO NO NO YES YES YES YES YES YES YES YES NO NR YES YES YES YES NR YES YES YES NO YES YES NR YES YES NR NO
C2 C2 C3 C5-6 C1 C2 C0 C4 C2 C2 C7 C2 C7 C2 C5 C6 C4 C2 C5 C4 C2 C1 C5 C2 C2 C6 C7-T1 C3 C2 C1 C2-4 C2 C5 C5 C3 C5-6 C7 C3 C2 C2 C2 C1 C2 C7
Lamina Lamina NR Articular mass Odontoid Lamina/Pedicle Occipital bone Lamina Lamina Lamina Lamina Lamina Body Lamina Lamina/Pedicle Body Lamina Lamina Lamina Lamina Lamina Arch Body Lamina Posterior arch Lamina Pedicle/body Lamina Posterior arch Anterior arch Lamina Lamina Lamina Lamina Lamina Pedicle/joint Lamina/Pedicle Lamina Body Posterior arch Lamina Posterior arch Pedicle Lamina
7 Mos 9 Yrs 3 Yrs 9 Mos Acute 4 Mos 3 Yrs 8 Mos 4 Yrs 2 Mos NR 5 Mos 1 Yr 1 Yr Acute 6 Mos 5 Mos 3 Mos 1 Yr 16 Yrs 3 Mos Acute 5 Yrs 9 Mos 4 Mos 1 Mo 1 Mo 4 Mos 1 Yr 9 Yrs 2 Mos 11 Mos 5 Mos 3 Yrs 18 Mos 9 Yrs 1 Mo 9 Yrs NR 9 Mos NR 6 Mos NR 6 Mos
NO YES NO YES NO YES NO YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES YES
Died Improved Died Good Died Good Died Good Good Good NR Good Good Good Died Good Good Good Good Improved Good Good Improved Good Good NR Good Good Improved Good Good Good Good Improved Good Good Good Good Good Good Good Good Good Good
NR, not related.
In addition, based on the presented case and literature review, in cases of acute or chronic spinal cord compression, prophylactic surgery for asymptomatic patients with HME may be an option to avoid extremely serious neurologic sequelae or even death.
References [1] Anton J, Sainz C, Perez E, Moreno L, Ojeda J. Compresion medular a nivel de C6 como primer signo de exostosis multiple hereditaria. Rev Clin Esp 1990;186(2):88 - 90. [2] Atabay H, Kuyucu Y, Korkmaz O, Iplikcioglu AC. Myelopathy due to hereditary multiple exostoses: CT and MR studies. Clin Neurol Neurosurg 1996;98(2):186 - 8.
[3] Barros Filho TE, Oliveira RP, Taricco MA, Gonzalez CH. Hereditary multiple exostoses and cervical ventral protuberance causing dysphagia. A case report. Spine 1995;20(14):1640 - 2. [4] Bhojraj SY, Panjwani JS. A new management approach to decompression, posterior stabilization, and fusion for cervical laminar exostosis with cord compression in a case of diaphyseal aclasis. Case report and review of the literature. Spine 1993;18(10):1376 - 9. [5] Blaauw G. Osteocartilaginous exostosis of the spine. In: Vinken PJ, Bruyn GW, editors. Handbook of clinical neurology, vol. 19. Amsterdam7 North Holland Publishing; 1975. p. 313 - 9. [6] Carmel PW, Cramer FJ. Cervical cord compression due to exostosis in a patient with hereditary multiple exostoses. Case report. J Neurosurg 1968;28(5):500 - 3. [7] Chiurco AA. Multiple exostoses of bone with fatal spinal cord compression; report of a case and brief review of the literature. Neurology 1970;20(3):275 - 8.
M. Giudicissi-Filho et al. / Surgical Neurology 66 (2006) S3:7 – S3:11 [8] Chooi YS, Siow YS, Chong CS. Cervical myelopathy caused by an exostosis of the posterior arch of C1. J Bone Joint Surg Br 2005;87(2):257- 9. [9] Cirak B, Karabulut N, Palaoglu S. Cervical osteochondroma as a cause of spinal cord compression in a patient with hereditary multiple exostoses: Computed tomography and magnetic resonance imaging findings. Australas Radiol 2002;46(3):309 - 11. [10] Eder HG, Oberbauer RW, Ranner G. Cervical cord compression in hereditary multiple exostoses. J Neurosurg Sci 1993;37(1):53 - 6. [11] Ergun R, Okten AI, Beskonakli E, Akdemir G, Taskin Y. Cervical laminar exostosis in multiple hereditary osteochondromatosis: anterior stabilization and fusion technique for preventing instability. Eur Spine J 1997;6(4):267 - 9. [12] Ferrari G, Taddei L, Vivenza C, Rossi G. Paraparesis in hereditary multiple exostoses: case report. Neurology 1979;29(7):973 - 7. [13] Gottlieb A, Severi P, Ruelle A, Lasio G. Exostosis as a cause of spinal cord compression. Surg Neurol 1986;26(6):581 - 4. [14] Jaffe HL. Hereditary multiple exostosis. Arch Pathol 1943;36:335 - 57. [15] Johnston II CE, Sklar F. Multiple hereditary exostoses with spinal cord compression. Orthopedics 1988;11(8):1213 - 6. [16] Jorge Facure J, Facure NO, Castro LF. Exostose multipla hereditaria com compressao medular. Arq Neuropsiquiatr 1975;33(2):151 - 5. [17] Korinth MC, Ramaekers VT, Rohde V. Cervical cord exostosis compressing the axis in a boy with hereditary multiple exostoses. Case illustration. J Neurosurg 2004;100(2 Suppl Pediatrics):223. [18] Labram EK, Mohan J. Diaphyseal aclasis with spinal cord compression. Report of two cases and review of the literature. J Neurosurg 1996;84(3):518 - 21. [19] Madigan R, Worrall T, McClain EJ. Cervical cord compression in hereditary multiple exostosis. Review of the literature and report of a case. J Bone Joint Surg Am 1974;56(2):401 - 4. [20] Mikawa Y, Watanabe R, Nakashima Y, Hayashida T. Cervical spinal cord compression in hereditary multiple exostoses. Report of a case and a review of the literature. Arch Orthop Trauma Surg 1997;116(1-2):112 - 5. [21] Misra UK, Nag D, Dave VS, Shukla R, Kar AM. Cervical cord compression due to chondromatous change in a patient with metaphysial aclasis. J Neurol Neurosurg Psychiatry 1983;46(12):1155 - 7. [22] Miyamoto K, Sakaguchi Y, Hosoe H, et al. Tetraparesis due to exostotic osteochondroma at upper cervical cord in a patient with multiple exostoses-mental retardation syndrome (Langer-Giedion syndrome). Spinal Cord 2005;43(3):190 - 4. [23] Moriwaka F, Hozen H, Nakane K, Sasaki H, Tashiro K, Abe H. Myelopathy due to osteochondroma: MR and CT studies. J Comput Assist Tomogr 1990;14(1):128 - 30. [24] Nunez DA, Graham HK, Fixsen JA. Cervical cord compression and femoral neuropathy in hereditary multiple exostoses. J Neurol Neurosurg Psychiatry 1990;53(5):439. [25] O’Connor GA, Roberts TS. Spinal cord compression by an osteochondroma in a patient with multiple osteochondromatosis. Case report. J Neurosurg 1984;60(2):420 - 3.
S3:11
[26] Oberndorf CP. A case of multiple exostoses coupled with syringomyelia. NY Med J 1910;91:479 - 83. [27] Ochsner EH, Rothstein T. Multiple exostoses including an exostosis within the spinal canal with surgical and neurological observations. Ann Surg 1907;46:608 - 16. [28] Oga M, Nakatani F, Ikuta K, Tamaru T, Arima J, Tomishige M. Treatment of cervical cord compression, caused by hereditary multiple exostosis, with laminoplasty: a case report. Spine 2000;25(10):1290 - 2. [29] Old WL, Triplett JN. Osteochondroma with thoracic cord compression in hereditary multiple exostoses: a case report. Virginia Med 1979;106: 303 - 6. [30] Omori M, Sakate Y, Tamura Y, Katayama M, Furukawa Y, Saito S. Cervical and compression due to exostosis in a patient with multiple exostosis: a case report. Seikei Geka 1983;34:1354 - 8. [31] Palmer FJ, Blum PW. Osteochondroma with spinal cord compression: report of three cases. J Neurosurg 1980;52(6):842 - 5. [32] Reid J. Case of disease of the spinal cord from an exostosis of the second cervical vertebra. Lond Edinb Mon J Med Sci 1843;3:194 - 8. [33] Robbins SE, Laitt RD, Lewis T. Hereditary spinal osteochondromas in diaphyseal aclasia. Neuroradiology 1996;38(1):59 - 61. [34] Rohde V, Reinacher P, Patz E, Sellhaus B, Gilsbach JM. Spinal cord compression by a cervical oseteocartilaginous exostosis: surgical strategy aspects. Z Orthop Ihre Grenzgeb 2004;142(2):179 - 83. [35] Roman G. Hereditary multiple exostoses. A rare cause of spinal cord compression. Spine 1978;3(3):230 - 3. [36] Rose EF, Fekete A. Odontoid osteochondroma causing sudden death. Am J Clin Pathol 1964;42:606 - 9. [37] Sawada M. Case report of hereditary multiple exostosis with symptoms of cervical spinal cord compression. Seikei Geka 1970;21(4):287 - 90. [38] Shapiro SA, Javid T, Putty T. Osteochondroma with cervical cord compression in hereditary multiple exostoses. Spine 1990;15(6):600 - 2. [39] Singh DS, Rao SS, Sharma S, Srivastava KK, Yadav SS. Cervical cord compression from multiple hereditary exostoses. J Assoc Physicians India 1980;28(12):535 - 7. [40] Slepian A, Hamby WB. Neurologic complications associated with hereditary deformity chondrodysplasia. Review of the literature and a report on two cases occurring in the same family. J Neurosurg 1951;8: 529 - 35. [41] Solomon L. Hereditary multiple exostosis. Am Hum Genet 1964;16: 351 - 63. [42] Tully RJ, Pickens J, Oro J, Levine C. Hereditary multiple exostoses and cervical cord compression: CT and MR studies. J Comput Assist Tomogr 1989;13(2):330 - 3. [43] Vinstein AL, Franken Jr EA. Hereditary multiple exostoses. Report of a case with spinal cord compression. Am J Roentgenol Radium Ther Nucl Med 1971;112(2):405 - 7. [44] Wen DY, Bergman TA, Haines SJ. Acute cervical myelopathy from hereditary multiple exostoses: case report. Neurosurgery 1989;25(3): 472 - 5.