CASE REPORT Klippel-Feil syndrome
Klippel-Feil Syndrome From the Departments of Emergency Medicine* and Radiology,~ Wilford Hall Medical Center, Lackland
Brent A Smith, MD, CPT, MC, US Army* Christopher Griffin, MD, CPT, MC, US Air Force*
Air Force Base, Texas. Received for publication October 28, 1991. Revision received January 16, 1992. Accepted for publication February 12, 1992. The opinions and views expressed herein are those of the authors and should not be construed as official or as representing the opinions of the Department of the Army or the Department of the Air Force.
KlippeI-Feil syndrome is characterized by congenital fusion of two or more cervical vertebrae and may be associated with other organ system anomalies. Although many congenital anomalies are of little clinical importance to the emergency physician, KlippeI-Feil syndrome is associated with both spontaneous and progressive neurologic sequelae as well as a predisposition for serious neurologic injury after relatively minor neck trauma. Such patterns of skeletal abnormalities as an unstable fusion pattern, craniocervical anomalies, and associated spinal stenosis are associated with a higher risk of neurologic sequelae. We report the case of a patient with a previously undiagnosed type II KlippeI-Feil syndrome who presented after neck trauma to illustrate how further diagnostic imaging modalities may be required to elucidate the presence or absence of acute injury. Key considerations in the emergency management of such patients include radiographic evaluation for hypermobile cervical segments, the anticipation of difficult tracheal intubation, and proper follow-up and referral because of the associated other organ system anomalies and progression of the skeletal pathology. [Smith BA, Griffin C: KtippeI-Feil syndrome. Ann EmergMedJuly 1992;21:876-879.] INTRODUCTION Although many congenital anomalies are of little clinical significance to the emergency physician, those that predispose the patient to unusual sequelae must be recognized. KlippelFeil syndrome is an uncommon disorder that is characterized by fusion of two or more cervical-spine bony elements at any level, but most commonly affecting the C2-C3 and C5-C6 levels. The overall incidence of congenital cervical-spine fusion has been r e p o r t e d to be 0.71% in one series of adult cadaveric skeletons.1 Because of associated other organ system anomalies and the predisposition to serious neurologic pathology after relatively minor t r a u m a as well as occurring spontaneously, it is important for p r i m a r y care physicians to both recognize the syndrome and be cognizant of the initial and subsequent management of affected patients. We present an illustrative case of type II Klippel-Feil syndrome seen in the emergency department after neck trauma.
JULY 1992 2 1 : 7 ANNALS OF EMERGENCY MEDICINE
876/145
I
KLIPPEL-FEIL S Y N D R O M E Smith & Griffin
The pathophysiology, radiographic and clinical findings, and management are discussed.
CASE REPORT A 13-year-old boy presented to the ED complaining of neck pain after an episode of rough-housing with an older sibling in which the patient sustained a hyperflexion i n j u r y to the neck. He denied the presence of weakness, numbness, loss of consciousness, ataxia, or any other complaints. There was no history of neck injury, syncope, or neurologic symptoms. During an episode of croup, the patient had had a normal anteroposterior and lateral cervical r a d i o g r a p h at the age of 4 years, and a chest r a d i o g r a p h performed at 6 months of age was reported as normal. Hearing tests at ages 8 and 11 years also were normal. The patient had no known congenital or acquired medical problems, and the family history was nnremarkable. On physical examination, the patient was a well-developed, alert adolescent in no distress. Vital signs were normal. He had diffuse tenderness to palpation of the posterior midline and paraspinous cervical region, which was most prominent in the lower cervical spine. The neck did not a p p e a r short, and the posterior hairline was normal. Detailed neurologic examination, including cranial nerves, motor and sensory function, gait, deep tendon reflexes, and rectal tone, was normal. No gross skeletal abnormalities were noted, and the rest of the physical examination was u n r e m a r k a b l e . Cervical-spine films performed in the ED demonstrated a 2-mm anterolisthesis at C4-C5, as well as loss of the interverterbral disc space at the C5-C6 level (Figure 1). The findings were assumed to be potentially acute and the patient was admitted to an ICU with continued spinal immobilization. Flexion-extension cervical radiographs were subsequently
obtained, and no malalignment or instability was found (Figure 2). A cervical magnetic resonance image study was performed, and no other spinal cord or bony abnormalities were found (Figure 3). The patient's neck discomfort improved, and he was discharged home with a cervical collar and instructions to avoid injury. Repeat flexion-extension radiographs eight days after the i n j u r y were unchanged. Long-term follow-up was unavailable.
DISCUSSION Klippel-Feil syndrome is an idiopathic congenital disorder that was first described in 1912. The hallmark of the condition is fusion of two or more cervical vertebrae. 2 The classic triad of a short neck, limited neck motion, and a low posterior hairline is seen in approximately 50% of patients. 3 The d i s o r d e r is speculated to result from faulty segmentation of the cervical stomites during the third to eighth weeks of gestation, and there is absence of intervertebral discs at affected levels. 3 It is speculated that the embryologic insult precipitating the syndrome may account for the other associated organ system anomalies seen. 4 The syndrome may follow an autosomal recessive or dominant inheritance p a t t e r n with variable penetration.5 A number of anomalies are associated with Klippel-Feil syndrome, including urologic anomalies (35% to 64%), deafness (30%), congenital heart disease (14%) (especially ventricular septal defect), and Sprengel's deformity (rotation and u p w a r d displacement of the scapula) (30%). 5 Congenital neural abnormalities such as m i r r o r movements (18% to 20%) also may occur. Hydrocephalus, hydromyelia, syringomyelia, and meningocele are less commonly reported. 6 Other skeletal abnormalities such as kyphoscoliosis, hemivertebrae, and malformed or cervical ribs are common. 5
Figur01.
Figure 2.
Figure 3.
Initial ED lateral cervical radiograph demonstrating C4-C5 anterolisthesis (small arrow) and loss of intervertebral body disc space at the C5-C6 level (large arrow)
Flexion (A) and extension (B) views demonstrate normal alignment and no cervical-spine instability. Block vertebrae at C5-C6 are clearly seen.
Magnetic resonance imaging (T 2 weighted image) confirmed the presence of vertebral body fusion at the C5-C6 level without intervening disc signal (arrow). Spinal cord signal and canal dimensions are normal.
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ANNALS OF EMER6ENCY MEDICINE 21:7 JULY 1992
KLIPPEL-FEIL SYNDROME Smith & Griffin
In one retrospective review of 1,215 patients with congenital scoliosis and kyphosis, 25% of patients also h a d segmentation defects of the cervical spine. The most common lesion was an isolated fusion of the second and third cervical vertebrae (C2-C3), but multiple level involvement was not uncommon. 7 The classification of this syndrome is largely descriptive and includes type I, extensive cervical and u p p e r thoracic spinal fusion; type II, one or two cervical interspace fusions, sometimes with associated hemivertebrae and occipitoatlantal fusion; and type I I I , type I or II with associated lower thoracic or l u m b a r spine fusion, a Type II lesions are the most common, with an overall incidence of 0.71% in one series of adult cadaveric skeletons studied. 1 The authors did not study thoracic lesions. Type I patients are more likely to exhibit the classic t r i a d and have other m a j o r anomalies. 5 In addition to vertebral body fusion, other radiographic findings include spinous process fusion and flattening and widening of the vertebral body along with narrowed or absent i n t e r v e r t e b r a l discs. 9 As seen in our case, the cervical synostosis may progress, with early radiographs giving the a p p e a r a n c e of segmentation caused by the presence of interspace cartilage. However, as the endplates mature, the vertebral bodies undergo fusion, resulting in the formation of block vertebrae. 3 Although patients with Klippel-Feil syndrome are often asymptomatic, they may develop a number of spontaneous neurologie sequelae as a result of their bony anomalies. Spontaneous spinal cord compression or nerve root compression can produce u p p e r and lower neuron dysfunction, respectively. Thus, ataxia, hyperreflexia, spasticity, and a variety of motor or sensory deficits can develop. The p a t h o physiology of these complications is p r o b a b l y related to the increased stresses placed on the abnormal cervical spine, resulting in degenerative changes, spinal stenosis, intervertebral foramina stenosis, and cervical-spine instability.9-11 Patients with the syndrome are predisposed to m a j o r neurologic sequelae after relatively minor trauma. Traumatic quadriplegia and cord compression after relatively minor trauma with and without associated fracture or subluxation have been reported.2, n-13 Acute cerebrovascular accident and syncope also may occur from atraumatic mechanical factors affecting the vertebral arteries. 14 The predisposition to spinal cord injury is thought to be caused by altered mechanical force transfer in the a b n o r m a l cervical skeleton. The fused vertebral bodies above and below hypermobile segments may transfer minor forces through long mechanical lever arms to the hypermobile segments. The larger the number of fused vertebrae, the more predisposition exists to hypermobility at the remaining mobile levels, at early osteophyte formation, and to m a j o r neurologic sequelae after minor trauma.2 In one series of Klippel-Feil patients, the following patterns of cervical anomalies were associated with an increased risk of neurologic deficits with or without traumaa: patients with an unstable fusion p a t t e r n (ie, two block fusions with an
.IULY1992
2 1 : 7 ANNALS OF EMERGENCY MEDIClNE
intervening open disc space), those with craniocervical abnormalities, and those with associated spinal stenosis. In this series, patients with single cervical level involvement and no craniocervical j u n c t i o n abnormalities did well but long-term follow-up was not available in all cases. Asymptomatic individuals do not generally come to medical attention. In general, however, those patients with other than an isolated type II anomaly more often present with spontaneous spinal cord compression manifestations or u p p e r extremity radiculopathy. More subtle clues to the presence of Klippel-Feil syndrome include suboccipital headaches, neck pain, torticollis, and restricted neck motion.S The emergency management of patients with known or suspected Klippel-Feil syndrome is dependent on the presentation. In the absence of t r a u m a , a high index of suspicion is required to consider cervical anomalies as the cause of the patient's presenting complaint. In some cases, the discovery of the syndrome may be an incidental finding. Regardless of the presentation, emergency endotracheal intubation should be anticipated to be difficult because of the altered anatomy and reduced neck mobility.5 All patients with Klippel-Feil syndrome should be evaluated with flexion-extension radiographs to look for potential instability of hypermobile segments that might pose a threat to the patient.2, n Other diagnostic imaging modalities that may be r e q u i r e d to elucidate the nature of the anomalies and presence of acute pathology include magnetic resonance imaging, computed tomography scans, myelography, additional axial spine radiographs, and urologic diagnostics such as pyelography. In the absence of progressive symptoms or sudden cord injury, the question of when hypermobility becomes significant enough to w a r r a n t stabilization by a fusion p r o c e d u r e is not w~ll defined but has been used successfully for a variety of neurologic symptomatology.sdo, 14 The role of prophylactic surgical stabilization in patients with isolated neck pain or without symptoms is controversial. Even in the patient who has undergone a cervical fusion operation, long-term follow-up is indicated. 15 All patients should be instructed to protect themselves against injury.
SUMMARY Congenital fusion of the cervical spine is associated with both spontaneous and progressive neurologic problems as well as predisposition to spinal cord i n j u r y after relatively minor trauma. Mechanical factors also may lead to central nervous system vascular accidents. The radiographic abnormalities found in Klippel-Feil syndrome may simulate acute pathology and thus require further diagnostic modalities to elucidate the situation. Key considerations in the management of these patients include radiographic evaluation for hypermobile cervical segments, recognition of high-risk patterns of skeletal anomalies and p r o p e r referral because of the associated
878/147
KLIPPEL-FEIL SYNDROME
Smith & Griffin
other organ system anomalies, and progression of the skeletal pathology. The authors acknowledge Chief Warrant Officers Dave Roseand Rick Bretthauer for their advice in preparation of this manuscript. This article is dedicated to members of the armed forces who served their country during Operation Desert Storm.
REFERENCES 1. Brown MW, TempletonAW, HodgesFJ: The incidence of acquired and congenital fusions of the cervical spine. Am J Roentgeno/RadiumTherNuc/'Med 1964;92:12551259. 2. Louw JA, Albertse H: Traumatic quadriplegia after minor trauma in the KlippeI-Feil syndrome (letter). S Afr Med J 1987;72:889-890. 3. Fietti VG, FieldingJW: The KlippeI-Feilsyndrome: Early roentgenographicappearance and progression of the deformity. J BoneJoint Surg1976;58A:891-892. 4. Nagib MG, Larson DA, Maxwell RE, et al: Neuroschisis of the cervical spinal cord in a patient with KlippeI-Feilsyndrome. Neurosurgery1987;20:629-631. 5. Daum REO,Jones DJ: Fiberoptic intubation in KlippeI-Feilsyndrome.Anaesthesia
1988;43:18-21. 6. Whittle IR, Besser M: Congenital neural abnormalities presenting with mirror movements in a patient with KlippeI-Feilsyndrome.J Neurosurg1983;59:891-894. 7. Winter RB, Moe JH, Lonstein JE: The incidence of KlippeI-Feilsyndrome in patients with congenital scoliosis and~yphosis. Spine 1984;9:363-366. 8. Nagib MG, Maxwell RE, Chou SH: Identification and managementof high-risk patients with KlippeI-Feilsyndrome.J Neurosurg1984;61:523-536. 9. Zimbler S, Belkin S: Birth defects involvingthe spine. OrthopClinNorthAm 1976;7:303-308. 10. Southwell RB, ReynoldsAF, Badger VM, at el: KlippeI-Feilsyndromewith cervical cord compression resulting from cervical subluxation in association with an omovertebral bone. Spine1980;5:480-482. 11. Elster AD: Quadriplegiaafter minor trauma in KlippeI-Feilsyndrome.J BoneJoint Surg 1984;66A:1473-1474. 12. Sherk HH, Dawoud S: Congenitalos odontoideumwith KlippeI-Feilanomaly and fatal alanto-axial instability. Spine1981;6:42-45. 13. Strax TE, Baran E:Traumatic quadriplegia associated with KlippeI-Feilsyndrome: Discussion and case reports. Arch PhysMedRehabi11975;56:363-365. 14. Born CT, Petrik M, Freed M, et al: Cerebrevascularaccident complicating KlippelFell syndrome.JBone JointSurg 1988;70A:1412-1415. 15. Herring JA, Bunnell WP: KlippeI-Feilsyndromewith neck pain. J Pediatr Orthop 1989;9:343-346. Address for reprints: Brent A Smith, MD, CPT, MC, US Army, Department of Emergency Medicine-SGHAE,Wilford Hall Medical Center, Lackland Air Force Base, Texas 78236.
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Klippel-Feil Syndrome From the Departments of Emergency Medicine* and Radiology,~ Wilford Hall Medical Center, Lackland
Brent A Smith, MD, CPT, MC, US Army* Christopher Griffin, MD, CPT, MC, US Air Force*
Air Force Base, Texas. Received for publication October 28, 1991. Revision received January 16, 1992. Accepted for publication February 12, 1992. The opinions and views expressed herein are those of the authors and should not be construed as official or as representing the opinions of the Department of the Army or the Department of the Air Force.
KlippeI-Feil syndrome is characterized by congenital fusion of two or more cervical vertebrae and may be associated with other organ system anomalies. Although many congenital anomalies are of little clinical importance to the emergency physician, KlippeI-Feil syndrome is associated with both spontaneous and progressive neurologic sequelae as well as a predisposition for serious neurologic injury after relatively minor neck trauma. Such patterns of skeletal abnormalities as an unstable fusion pattern, craniocervical anomalies, and associated spinal stenosis are associated with a higher risk of neurologic sequelae. We report the case of a patient with a previously undiagnosed type II KlippeI-Feil syndrome who presented after neck trauma to illustrate how further diagnostic imaging modalities may be required to elucidate the presence or absence of acute injury. Key considerations in the emergency management of such patients include radiographic evaluation for hypermobile cervical segments, the anticipation of difficult tracheal intubation, and proper follow-up and referral because of the associated other organ system anomalies and progression of the skeletal pathology. [Smith BA, Griffin C: KtippeI-Feil syndrome. Ann EmergMedJuly 1992;21:876-879.] INTRODUCTION Although many congenital anomalies are of little clinical significance to the emergency physician, those that predispose the patient to unusual sequelae must be recognized. KlippelFeil syndrome is an uncommon disorder that is characterized by fusion of two or more cervical-spine bony elements at any level, but most commonly affecting the C2-C3 and C5-C6 levels. The overall incidence of congenital cervical-spine fusion has been r e p o r t e d to be 0.71% in one series of adult cadaveric skeletons.1 Because of associated other organ system anomalies and the predisposition to serious neurologic pathology after relatively minor t r a u m a as well as occurring spontaneously, it is important for p r i m a r y care physicians to both recognize the syndrome and be cognizant of the initial and subsequent management of affected patients. We present an illustrative case of type II Klippel-Feil syndrome seen in the emergency department after neck trauma.
JULY 1992 2 1 : 7 ANNALS OF EMERGENCY MEDICINE
876/145
I
KLIPPEL-FEIL S Y N D R O M E Smith & Griffin
The pathophysiology, radiographic and clinical findings, and management are discussed.
CASE REPORT A 13-year-old boy presented to the ED complaining of neck pain after an episode of rough-housing with an older sibling in which the patient sustained a hyperflexion i n j u r y to the neck. He denied the presence of weakness, numbness, loss of consciousness, ataxia, or any other complaints. There was no history of neck injury, syncope, or neurologic symptoms. During an episode of croup, the patient had had a normal anteroposterior and lateral cervical r a d i o g r a p h at the age of 4 years, and a chest r a d i o g r a p h performed at 6 months of age was reported as normal. Hearing tests at ages 8 and 11 years also were normal. The patient had no known congenital or acquired medical problems, and the family history was nnremarkable. On physical examination, the patient was a well-developed, alert adolescent in no distress. Vital signs were normal. He had diffuse tenderness to palpation of the posterior midline and paraspinous cervical region, which was most prominent in the lower cervical spine. The neck did not a p p e a r short, and the posterior hairline was normal. Detailed neurologic examination, including cranial nerves, motor and sensory function, gait, deep tendon reflexes, and rectal tone, was normal. No gross skeletal abnormalities were noted, and the rest of the physical examination was u n r e m a r k a b l e . Cervical-spine films performed in the ED demonstrated a 2-mm anterolisthesis at C4-C5, as well as loss of the interverterbral disc space at the C5-C6 level (Figure 1). The findings were assumed to be potentially acute and the patient was admitted to an ICU with continued spinal immobilization. Flexion-extension cervical radiographs were subsequently
obtained, and no malalignment or instability was found (Figure 2). A cervical magnetic resonance image study was performed, and no other spinal cord or bony abnormalities were found (Figure 3). The patient's neck discomfort improved, and he was discharged home with a cervical collar and instructions to avoid injury. Repeat flexion-extension radiographs eight days after the i n j u r y were unchanged. Long-term follow-up was unavailable.
DISCUSSION Klippel-Feil syndrome is an idiopathic congenital disorder that was first described in 1912. The hallmark of the condition is fusion of two or more cervical vertebrae. 2 The classic triad of a short neck, limited neck motion, and a low posterior hairline is seen in approximately 50% of patients. 3 The d i s o r d e r is speculated to result from faulty segmentation of the cervical stomites during the third to eighth weeks of gestation, and there is absence of intervertebral discs at affected levels. 3 It is speculated that the embryologic insult precipitating the syndrome may account for the other associated organ system anomalies seen. 4 The syndrome may follow an autosomal recessive or dominant inheritance p a t t e r n with variable penetration.5 A number of anomalies are associated with Klippel-Feil syndrome, including urologic anomalies (35% to 64%), deafness (30%), congenital heart disease (14%) (especially ventricular septal defect), and Sprengel's deformity (rotation and u p w a r d displacement of the scapula) (30%). 5 Congenital neural abnormalities such as m i r r o r movements (18% to 20%) also may occur. Hydrocephalus, hydromyelia, syringomyelia, and meningocele are less commonly reported. 6 Other skeletal abnormalities such as kyphoscoliosis, hemivertebrae, and malformed or cervical ribs are common. 5
Figur01.
Figure 2.
Figure 3.
Initial ED lateral cervical radiograph demonstrating C4-C5 anterolisthesis (small arrow) and loss of intervertebral body disc space at the C5-C6 level (large arrow)
Flexion (A) and extension (B) views demonstrate normal alignment and no cervical-spine instability. Block vertebrae at C5-C6 are clearly seen.
Magnetic resonance imaging (T 2 weighted image) confirmed the presence of vertebral body fusion at the C5-C6 level without intervening disc signal (arrow). Spinal cord signal and canal dimensions are normal.
146/877
I
ANNALS OF EMER6ENCY MEDICINE 21:7 JULY 1992
KLIPPEL-FEIL SYNDROME Smith & Griffin
In one retrospective review of 1,215 patients with congenital scoliosis and kyphosis, 25% of patients also h a d segmentation defects of the cervical spine. The most common lesion was an isolated fusion of the second and third cervical vertebrae (C2-C3), but multiple level involvement was not uncommon. 7 The classification of this syndrome is largely descriptive and includes type I, extensive cervical and u p p e r thoracic spinal fusion; type II, one or two cervical interspace fusions, sometimes with associated hemivertebrae and occipitoatlantal fusion; and type I I I , type I or II with associated lower thoracic or l u m b a r spine fusion, a Type II lesions are the most common, with an overall incidence of 0.71% in one series of adult cadaveric skeletons studied. 1 The authors did not study thoracic lesions. Type I patients are more likely to exhibit the classic t r i a d and have other m a j o r anomalies. 5 In addition to vertebral body fusion, other radiographic findings include spinous process fusion and flattening and widening of the vertebral body along with narrowed or absent i n t e r v e r t e b r a l discs. 9 As seen in our case, the cervical synostosis may progress, with early radiographs giving the a p p e a r a n c e of segmentation caused by the presence of interspace cartilage. However, as the endplates mature, the vertebral bodies undergo fusion, resulting in the formation of block vertebrae. 3 Although patients with Klippel-Feil syndrome are often asymptomatic, they may develop a number of spontaneous neurologie sequelae as a result of their bony anomalies. Spontaneous spinal cord compression or nerve root compression can produce u p p e r and lower neuron dysfunction, respectively. Thus, ataxia, hyperreflexia, spasticity, and a variety of motor or sensory deficits can develop. The p a t h o physiology of these complications is p r o b a b l y related to the increased stresses placed on the abnormal cervical spine, resulting in degenerative changes, spinal stenosis, intervertebral foramina stenosis, and cervical-spine instability.9-11 Patients with the syndrome are predisposed to m a j o r neurologic sequelae after relatively minor trauma. Traumatic quadriplegia and cord compression after relatively minor trauma with and without associated fracture or subluxation have been reported.2, n-13 Acute cerebrovascular accident and syncope also may occur from atraumatic mechanical factors affecting the vertebral arteries. 14 The predisposition to spinal cord injury is thought to be caused by altered mechanical force transfer in the a b n o r m a l cervical skeleton. The fused vertebral bodies above and below hypermobile segments may transfer minor forces through long mechanical lever arms to the hypermobile segments. The larger the number of fused vertebrae, the more predisposition exists to hypermobility at the remaining mobile levels, at early osteophyte formation, and to m a j o r neurologic sequelae after minor trauma.2 In one series of Klippel-Feil patients, the following patterns of cervical anomalies were associated with an increased risk of neurologic deficits with or without traumaa: patients with an unstable fusion p a t t e r n (ie, two block fusions with an
.IULY1992
2 1 : 7 ANNALS OF EMERGENCY MEDIClNE
intervening open disc space), those with craniocervical abnormalities, and those with associated spinal stenosis. In this series, patients with single cervical level involvement and no craniocervical j u n c t i o n abnormalities did well but long-term follow-up was not available in all cases. Asymptomatic individuals do not generally come to medical attention. In general, however, those patients with other than an isolated type II anomaly more often present with spontaneous spinal cord compression manifestations or u p p e r extremity radiculopathy. More subtle clues to the presence of Klippel-Feil syndrome include suboccipital headaches, neck pain, torticollis, and restricted neck motion.S The emergency management of patients with known or suspected Klippel-Feil syndrome is dependent on the presentation. In the absence of t r a u m a , a high index of suspicion is required to consider cervical anomalies as the cause of the patient's presenting complaint. In some cases, the discovery of the syndrome may be an incidental finding. Regardless of the presentation, emergency endotracheal intubation should be anticipated to be difficult because of the altered anatomy and reduced neck mobility.5 All patients with Klippel-Feil syndrome should be evaluated with flexion-extension radiographs to look for potential instability of hypermobile segments that might pose a threat to the patient.2, n Other diagnostic imaging modalities that may be r e q u i r e d to elucidate the nature of the anomalies and presence of acute pathology include magnetic resonance imaging, computed tomography scans, myelography, additional axial spine radiographs, and urologic diagnostics such as pyelography. In the absence of progressive symptoms or sudden cord injury, the question of when hypermobility becomes significant enough to w a r r a n t stabilization by a fusion p r o c e d u r e is not w~ll defined but has been used successfully for a variety of neurologic symptomatology.sdo, 14 The role of prophylactic surgical stabilization in patients with isolated neck pain or without symptoms is controversial. Even in the patient who has undergone a cervical fusion operation, long-term follow-up is indicated. 15 All patients should be instructed to protect themselves against injury.
SUMMARY Congenital fusion of the cervical spine is associated with both spontaneous and progressive neurologic problems as well as predisposition to spinal cord i n j u r y after relatively minor trauma. Mechanical factors also may lead to central nervous system vascular accidents. The radiographic abnormalities found in Klippel-Feil syndrome may simulate acute pathology and thus require further diagnostic modalities to elucidate the situation. Key considerations in the management of these patients include radiographic evaluation for hypermobile cervical segments, recognition of high-risk patterns of skeletal anomalies and p r o p e r referral because of the associated
878/147
KLIPPEL-FEIL SYNDROME
Smith & Griffin
other organ system anomalies, and progression of the skeletal pathology. The authors acknowledge Chief Warrant Officers Dave Roseand Rick Bretthauer for their advice in preparation of this manuscript. This article is dedicated to members of the armed forces who served their country during Operation Desert Storm.
REFERENCES 1. Brown MW, TempletonAW, HodgesFJ: The incidence of acquired and congenital fusions of the cervical spine. Am J Roentgeno/RadiumTherNuc/'Med 1964;92:12551259. 2. Louw JA, Albertse H: Traumatic quadriplegia after minor trauma in the KlippeI-Feil syndrome (letter). S Afr Med J 1987;72:889-890. 3. Fietti VG, FieldingJW: The KlippeI-Feilsyndrome: Early roentgenographicappearance and progression of the deformity. J BoneJoint Surg1976;58A:891-892. 4. Nagib MG, Larson DA, Maxwell RE, et al: Neuroschisis of the cervical spinal cord in a patient with KlippeI-Feilsyndrome. Neurosurgery1987;20:629-631. 5. Daum REO,Jones DJ: Fiberoptic intubation in KlippeI-Feilsyndrome.Anaesthesia
1988;43:18-21. 6. Whittle IR, Besser M: Congenital neural abnormalities presenting with mirror movements in a patient with KlippeI-Feilsyndrome.J Neurosurg1983;59:891-894. 7. Winter RB, Moe JH, Lonstein JE: The incidence of KlippeI-Feilsyndrome in patients with congenital scoliosis and~yphosis. Spine 1984;9:363-366. 8. Nagib MG, Maxwell RE, Chou SH: Identification and managementof high-risk patients with KlippeI-Feilsyndrome.J Neurosurg1984;61:523-536. 9. Zimbler S, Belkin S: Birth defects involvingthe spine. OrthopClinNorthAm 1976;7:303-308. 10. Southwell RB, ReynoldsAF, Badger VM, at el: KlippeI-Feilsyndromewith cervical cord compression resulting from cervical subluxation in association with an omovertebral bone. Spine1980;5:480-482. 11. Elster AD: Quadriplegiaafter minor trauma in KlippeI-Feilsyndrome.J BoneJoint Surg 1984;66A:1473-1474. 12. Sherk HH, Dawoud S: Congenitalos odontoideumwith KlippeI-Feilanomaly and fatal alanto-axial instability. Spine1981;6:42-45. 13. Strax TE, Baran E:Traumatic quadriplegia associated with KlippeI-Feilsyndrome: Discussion and case reports. Arch PhysMedRehabi11975;56:363-365. 14. Born CT, Petrik M, Freed M, et al: Cerebrevascularaccident complicating KlippelFell syndrome.JBone JointSurg 1988;70A:1412-1415. 15. Herring JA, Bunnell WP: KlippeI-Feilsyndromewith neck pain. J Pediatr Orthop 1989;9:343-346. Address for reprints: Brent A Smith, MD, CPT, MC, US Army, Department of Emergency Medicine-SGHAE,Wilford Hall Medical Center, Lackland Air Force Base, Texas 78236.
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