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Congenital elevation of the scapula and Brown-Sequard syndrome
Congenital elevation of the scapula and Brown-Sequard syndrome H . H a u m a n * , G. Wilms* *, J . M . R o u s s e l * * *, a n d R. van d e n B e r g h *
Introduction Summary The first description of congenital elevation of the scapula is attributed to Eulenburg in 18631. In 1891 Sprengel described four cases and in the literature the syndrome was named after this scientist 2. Sprengel advanced the theory of failure of the scapular descent during intrauterine development as the cause of this condition. According to a detailed study of the embryonic development of the arm by Lewis, the scapula is represented by a mesenchymal mass at the level of the fourth and fifth cervical vertebrae at about 41/2weeks of gestation. In the following week the scapula begins its descent and lateral rotation, and by the eighth week the upper border of the scapula is at the level of the seventh cervical vertebra and the inferior angle at the sixth rib. The scapula has then nearly attained its normal position. When the scapula remains in a elevated position, the clavicle will not reach its normal position either. This will mean an increased risk when surgery is recommended as therapy. An omovertebral connection of bone, fibrous tissue or cartilage is present in 25 to 50 per cent of the patients 3,4. This connection links the superior angle of the scapula to the cervical or dorsal spine. In most cases of Sprengel's deformity there
We describe the case of a 14-year-old boy with a Sprengel deformity and a Brown-Sdquard syndrome on the basis of a compression of the spinal cord at level C4. Although there are several publications on anomalies associated with Sprengel's deformity, this is, to our knowledge, the first description of a case with spinal cord compression. Key words: Sprengel's deformity, scapula, Brown-S6quard syndrome.
are only cosmetic complaints. An omovertebral bone usually limits shoulder movements. Sprengel's deformity occurs relatively often. Walker mentions this anomaly in 1 or 2 h 3000 births 5. Most cases occur sporadically but in a minority of cases it probably is inherited as an autosomal dominant trait. In the literature we could only find five reports of families with a dominant inheritance 6,7.
Case report Our patient, a boy, was born in March 1970 with an elevation of the right scapula, (Sprengel's
Report for the Belgian Society of Neurology, May 4th, 1985, * Department of Neurology and Neurosurgery, Katholieke Universiteit, Leuven, Belgium, Head: ProfDr. R. van den Bergh. * * Department of Radiology, Katholieke Universiteit, Leuven, Belgium, Head: Prof.Dr. A.L. Baert. * * * Department of Neurology, A.Z. St. Jan Brugge, Belgium, Head: Dr. J.M. Roussel. Address for correspondence and reprint requests: R. van den Bergh, Department of Neurology and Neurosurgery, University Hospital St. Rafa#l, Gasthuisberg, 3000 Leuven, Belgium. Accepted 16.9.86 Clin Neurol Neurosurg 1986. Vol. 88-4.
289
Fig. 1. Patient with a right sided Sprengel's deformity.
Fig. 2. Patient's mother. Noticethe elevationof the left scapulaand the scar at the superior angle.
deformity), connected to the cervical spine by an omovertebral bone (Fig. 1). His mother also had a Sprengel deformity, associated with oligodactylia of the right hand. She underwent a surgical correction of the deformity at the age of seven (Fig. 2). Two sisters were normal and there were no other cases in the family. At the age of 6 the patient was examined at the university department of orthopaedic surgery. Since there were only minimal cosmetic and functional problems, a conservative attitude was adopted. In January 1983 the patient suddenly noticed that he didn't feel the temperature of a hot bath with his right leg. H e also mentioned paraesthesias in his right arm. On neurological examination there was a thermoanalgesia of the right leg. Later on the thermoanalgesia ascended slowly and brisk reflexes developed in the left limbs. In November 1983 the strength of the four limbs was normal. The left tendon
reflexes were exaggerated and the left plantar reflex was extensor. Hoffmann-Tr6mner's reflexes were negative bilaterally. There was a thermoanalgesia of the right hermicorpus from level C6. The sensation of light touch, vibration and tactile discrimination were unimpaired. Cranial nerves and coordination were normal.
290
Anteroposterior radiographs demonstrated a right Sprengel's malformation, with an elevated scapula and an omovertebral connection which linked the superior angle of the scapula to the cervical spine, where it is embedded in the right half of a large posterior arch defect of C5. We also found spinae bifidae of C4 and C6. Paramedian left there was a bony fragment included in the spina bifida (Fig. 3). A cervical myelogram showed an interruption of the contrast medium at level C4. A CT-scan demonstrated at level C4 an aplasia of the medial part of the left posterior arch and the
Fig. 3. AP view of the cervical spine - Defect in the posterior arch of the 4th, 5th and 6th cervical vertebra. - Small additional osseous fragment on the left at the level of C4 and C5. At the level of the posterior arch of C4 this fragment is localized within the posterior arch defect. - Greater osseous fragment at the level of C5, C6 and C7, filling up the right half of the posterior arch defect of C5.
Fig. 5. CT slice through vertebral body of C5. Large posterior arch defect of the fifth cervical vertebra with aplasia of the right pedicle. In this defect the smaller osseous fragment is located, together with the larger club shaped cranial end of the greater fragment. The latter is articulating at this level with the hypertrophic processus costotransversarius of C6. Notice the intraspinal extension of the smaller fragment.
Fig. 4. CT slice through vertebral body of C4. Large left paramedian posterior arch defect, containing a small extension of the smaller osseous fragment.
Fig. 6. OF scan performed after metrizamide myelography. Important degree of compression of the left posterolateral aspect of the cervical dural sac and the cervical spinal cord, by the smaller left osseous fragment, embedded in the spina bifida C4.
291
aberrant bony fragment e m b e d d e d in the spina bifida (Fig. 4). On level C5 there was a large arch defect with an aplasia of the right pedicle. In this defect the smaller osseous fragment was located, together with the cranial end of the greater fragment. The latter connected with the hypertrophic processus costotransversarius of C6 (Fig. 5). The CT-scan after metrizamide showed an important compression of the posterolateral aspect of the cervical dural sac and the spinal cord caused by the smaller left fragment at level C4 (Fig. 6). In N o v e m b e r 1984 the pyramidal syndrome increased noticeably with patellar cloni, positive H o f f m a n n - T r 6 m n e r signs and a disturbed gait, caused by a beginning drop foot and circumduction. At neurosurgery the left localized aberrant bony fragment, which we considered responsible for the neurological syndrome, was removed from the cleft in the posterior arch C4. The omovertebral connection was not removed in order to avoid instability of the cervical spine. Postoperative there was a distinct regression of the left pyramidal syndrome and the level of the right sided thermoanalgesia descended a few segments. Discussion
Congenital elevation of the scapula is the most c o m m o n congenital abnormality of the shoulder. There is an extremely high incidence (Chung: 67%, Cavendish: 98%) of associated skeletal and soft tissue anomalies including spina bifida 3, Klippel-Feil syndrome 3, hemivertebrae 3, diastematomyelia 9, coarctatio aortae s, renal anomalies s,l~ and hypoplasia of the pectoralis major, trapezius, serratus anterior and latissimus dorsi 3. A compression of the spinal cord associated with a bony malformation is, to our knowledge, never described. Our patient has a Sprengel malformation of the right scapula with an omovertebral bone. H e
292
also has a Brown-Sdquard syndrome with a thermoanalgesia to the right from level C6 and a pyramidal syndrome to the left. This BrownS6quard syndrome cannot be caused by the right o m o v e r t e b r a l connection. The neuroradiological examinations showed several spinae bifidae on the cervical level and with an aberrant bony fragment paramedian left embedded. We attribute the neurological syndrome to this bone. A n o t h e r dysraphic malformation cannot be excluded, as the dura m a t e r was not opened during surgery. O u r patient is an exception to the rule that Sprengel's deformity occurs sporadically, but as the mother also has an associated oligodactylia we don't know whether we may apply the rule. T r e a t m e n t of Sprengel's deformity, usually orthopaedic surgery, is r e c o m m e n d e d between 3 and 7 years of age. In the older child there is an increased risk of injury to the brachial plexus from stretching or compression by the clavicle. References
1 EULENBURG,O. Hochgradige Dislocation der Scapula. Arch Klin Chir 1863; 4:304-11. 2 SPRENGEL O. Die angeborene Verschiebung des Schulterblattes nach oben. Arch Klin Chir 1891; 42:54551. 3 CAVENDISH ME. Congenital elevation of the scapula. The journal of Bone and Joint Surgery 1972; 54:395-408. 4 C H U N G S M K , N I S S E N B A U M MM. Congenital and Developmental Defects of the Shoulder. Orthopedic Clinics of North-America 1975; 6:381-92. 5 WALKERY. Famili/ires Vorkommen des Schulterblatthochstandes. Z Orthoph 1972; 110:203-11. 6 W I L S O N M G , KIKITY V G , S H I N N O N W . Dominant inheritance of Sprengel's deformity. The Journal of Pediatrics 1971; 79:818-21. 7 KIEFFER D , K U N T Z J L , H E I T Z A , A S C H L. Complexe malformatif inhabituel dans une maladie de Sprengel. Revue du Rheumatisme 1981; 48:371-4. 8 W A A L E R PE, A A R S K O G D . Syndrome of hydrocephalus, costovertebral dysplasia and Sprengel's anomaly with dominant inheritance. Neuropediatrics 1980; 11:291-7. 9 B A N N I Z A VON B A Z A N U . The association between congenital elevation of the scapula and diastematomyelia. The Journal of Bone and Joint Surgery 1979; 61:59-63. 10 HENSINGERRN.Orthopedic problems of the shoulder and neck. Pediatric Clinics of North America 1977; 24:889902.
Introduction Summary The first description of congenital elevation of the scapula is attributed to Eulenburg in 18631. In 1891 Sprengel described four cases and in the literature the syndrome was named after this scientist 2. Sprengel advanced the theory of failure of the scapular descent during intrauterine development as the cause of this condition. According to a detailed study of the embryonic development of the arm by Lewis, the scapula is represented by a mesenchymal mass at the level of the fourth and fifth cervical vertebrae at about 41/2weeks of gestation. In the following week the scapula begins its descent and lateral rotation, and by the eighth week the upper border of the scapula is at the level of the seventh cervical vertebra and the inferior angle at the sixth rib. The scapula has then nearly attained its normal position. When the scapula remains in a elevated position, the clavicle will not reach its normal position either. This will mean an increased risk when surgery is recommended as therapy. An omovertebral connection of bone, fibrous tissue or cartilage is present in 25 to 50 per cent of the patients 3,4. This connection links the superior angle of the scapula to the cervical or dorsal spine. In most cases of Sprengel's deformity there
We describe the case of a 14-year-old boy with a Sprengel deformity and a Brown-Sdquard syndrome on the basis of a compression of the spinal cord at level C4. Although there are several publications on anomalies associated with Sprengel's deformity, this is, to our knowledge, the first description of a case with spinal cord compression. Key words: Sprengel's deformity, scapula, Brown-S6quard syndrome.
are only cosmetic complaints. An omovertebral bone usually limits shoulder movements. Sprengel's deformity occurs relatively often. Walker mentions this anomaly in 1 or 2 h 3000 births 5. Most cases occur sporadically but in a minority of cases it probably is inherited as an autosomal dominant trait. In the literature we could only find five reports of families with a dominant inheritance 6,7.
Case report Our patient, a boy, was born in March 1970 with an elevation of the right scapula, (Sprengel's
Report for the Belgian Society of Neurology, May 4th, 1985, * Department of Neurology and Neurosurgery, Katholieke Universiteit, Leuven, Belgium, Head: ProfDr. R. van den Bergh. * * Department of Radiology, Katholieke Universiteit, Leuven, Belgium, Head: Prof.Dr. A.L. Baert. * * * Department of Neurology, A.Z. St. Jan Brugge, Belgium, Head: Dr. J.M. Roussel. Address for correspondence and reprint requests: R. van den Bergh, Department of Neurology and Neurosurgery, University Hospital St. Rafa#l, Gasthuisberg, 3000 Leuven, Belgium. Accepted 16.9.86 Clin Neurol Neurosurg 1986. Vol. 88-4.
289
Fig. 1. Patient with a right sided Sprengel's deformity.
Fig. 2. Patient's mother. Noticethe elevationof the left scapulaand the scar at the superior angle.
deformity), connected to the cervical spine by an omovertebral bone (Fig. 1). His mother also had a Sprengel deformity, associated with oligodactylia of the right hand. She underwent a surgical correction of the deformity at the age of seven (Fig. 2). Two sisters were normal and there were no other cases in the family. At the age of 6 the patient was examined at the university department of orthopaedic surgery. Since there were only minimal cosmetic and functional problems, a conservative attitude was adopted. In January 1983 the patient suddenly noticed that he didn't feel the temperature of a hot bath with his right leg. H e also mentioned paraesthesias in his right arm. On neurological examination there was a thermoanalgesia of the right leg. Later on the thermoanalgesia ascended slowly and brisk reflexes developed in the left limbs. In November 1983 the strength of the four limbs was normal. The left tendon
reflexes were exaggerated and the left plantar reflex was extensor. Hoffmann-Tr6mner's reflexes were negative bilaterally. There was a thermoanalgesia of the right hermicorpus from level C6. The sensation of light touch, vibration and tactile discrimination were unimpaired. Cranial nerves and coordination were normal.
290
Anteroposterior radiographs demonstrated a right Sprengel's malformation, with an elevated scapula and an omovertebral connection which linked the superior angle of the scapula to the cervical spine, where it is embedded in the right half of a large posterior arch defect of C5. We also found spinae bifidae of C4 and C6. Paramedian left there was a bony fragment included in the spina bifida (Fig. 3). A cervical myelogram showed an interruption of the contrast medium at level C4. A CT-scan demonstrated at level C4 an aplasia of the medial part of the left posterior arch and the
Fig. 3. AP view of the cervical spine - Defect in the posterior arch of the 4th, 5th and 6th cervical vertebra. - Small additional osseous fragment on the left at the level of C4 and C5. At the level of the posterior arch of C4 this fragment is localized within the posterior arch defect. - Greater osseous fragment at the level of C5, C6 and C7, filling up the right half of the posterior arch defect of C5.
Fig. 5. CT slice through vertebral body of C5. Large posterior arch defect of the fifth cervical vertebra with aplasia of the right pedicle. In this defect the smaller osseous fragment is located, together with the larger club shaped cranial end of the greater fragment. The latter is articulating at this level with the hypertrophic processus costotransversarius of C6. Notice the intraspinal extension of the smaller fragment.
Fig. 4. CT slice through vertebral body of C4. Large left paramedian posterior arch defect, containing a small extension of the smaller osseous fragment.
Fig. 6. OF scan performed after metrizamide myelography. Important degree of compression of the left posterolateral aspect of the cervical dural sac and the cervical spinal cord, by the smaller left osseous fragment, embedded in the spina bifida C4.
291
aberrant bony fragment e m b e d d e d in the spina bifida (Fig. 4). On level C5 there was a large arch defect with an aplasia of the right pedicle. In this defect the smaller osseous fragment was located, together with the cranial end of the greater fragment. The latter connected with the hypertrophic processus costotransversarius of C6 (Fig. 5). The CT-scan after metrizamide showed an important compression of the posterolateral aspect of the cervical dural sac and the spinal cord caused by the smaller left fragment at level C4 (Fig. 6). In N o v e m b e r 1984 the pyramidal syndrome increased noticeably with patellar cloni, positive H o f f m a n n - T r 6 m n e r signs and a disturbed gait, caused by a beginning drop foot and circumduction. At neurosurgery the left localized aberrant bony fragment, which we considered responsible for the neurological syndrome, was removed from the cleft in the posterior arch C4. The omovertebral connection was not removed in order to avoid instability of the cervical spine. Postoperative there was a distinct regression of the left pyramidal syndrome and the level of the right sided thermoanalgesia descended a few segments. Discussion
Congenital elevation of the scapula is the most c o m m o n congenital abnormality of the shoulder. There is an extremely high incidence (Chung: 67%, Cavendish: 98%) of associated skeletal and soft tissue anomalies including spina bifida 3, Klippel-Feil syndrome 3, hemivertebrae 3, diastematomyelia 9, coarctatio aortae s, renal anomalies s,l~ and hypoplasia of the pectoralis major, trapezius, serratus anterior and latissimus dorsi 3. A compression of the spinal cord associated with a bony malformation is, to our knowledge, never described. Our patient has a Sprengel malformation of the right scapula with an omovertebral bone. H e
292
also has a Brown-Sdquard syndrome with a thermoanalgesia to the right from level C6 and a pyramidal syndrome to the left. This BrownS6quard syndrome cannot be caused by the right o m o v e r t e b r a l connection. The neuroradiological examinations showed several spinae bifidae on the cervical level and with an aberrant bony fragment paramedian left embedded. We attribute the neurological syndrome to this bone. A n o t h e r dysraphic malformation cannot be excluded, as the dura m a t e r was not opened during surgery. O u r patient is an exception to the rule that Sprengel's deformity occurs sporadically, but as the mother also has an associated oligodactylia we don't know whether we may apply the rule. T r e a t m e n t of Sprengel's deformity, usually orthopaedic surgery, is r e c o m m e n d e d between 3 and 7 years of age. In the older child there is an increased risk of injury to the brachial plexus from stretching or compression by the clavicle. References
1 EULENBURG,O. Hochgradige Dislocation der Scapula. Arch Klin Chir 1863; 4:304-11. 2 SPRENGEL O. Die angeborene Verschiebung des Schulterblattes nach oben. Arch Klin Chir 1891; 42:54551. 3 CAVENDISH ME. Congenital elevation of the scapula. The journal of Bone and Joint Surgery 1972; 54:395-408. 4 C H U N G S M K , N I S S E N B A U M MM. Congenital and Developmental Defects of the Shoulder. Orthopedic Clinics of North-America 1975; 6:381-92. 5 WALKERY. Famili/ires Vorkommen des Schulterblatthochstandes. Z Orthoph 1972; 110:203-11. 6 W I L S O N M G , KIKITY V G , S H I N N O N W . Dominant inheritance of Sprengel's deformity. The Journal of Pediatrics 1971; 79:818-21. 7 KIEFFER D , K U N T Z J L , H E I T Z A , A S C H L. Complexe malformatif inhabituel dans une maladie de Sprengel. Revue du Rheumatisme 1981; 48:371-4. 8 W A A L E R PE, A A R S K O G D . Syndrome of hydrocephalus, costovertebral dysplasia and Sprengel's anomaly with dominant inheritance. Neuropediatrics 1980; 11:291-7. 9 B A N N I Z A VON B A Z A N U . The association between congenital elevation of the scapula and diastematomyelia. The Journal of Bone and Joint Surgery 1979; 61:59-63. 10 HENSINGERRN.Orthopedic problems of the shoulder and neck. Pediatric Clinics of North America 1977; 24:889902.