Aging Clin Exp Res DOI 10.1007/s40520-014-0225-z
CASE REPORT
An aged patient with 11-year untreated progressive atlantoaxial subluxation manifesting with dyspnea due to unilateral diaphragmatic paralysis: a case report and literature review Yu Jin
Received: 30 December 2013 / Accepted: 8 April 2014 Ó Springer International Publishing Switzerland 2014
Introduction Atlantoaxial subluxation (AAS) is a condition in which the C1 and C2 vertebraes of the cervical spine are malaligned, with the potential to cause spinal cord injury, leading to neural damage, paralysis, or even death. This pathogenesis is frequently caused by trauma, inflammatory diseases, and congenital diseases [1–3]. Patients with AAS need to be early diagnosed and treated to prevent further severe neurological complications. Stiff collar, halo traction, and surgery are common means to stabilize the spine and decompress the spinal cord, and the prognosis is always pleasing after appropriate treatment [2–5]. We present an AAS patient who was misdiagnosed for a long time. While even after confirmed diagnosis of AAS, he refused external immobilization and surgical treatment. This patient gradually manifested with a variety of symptoms related to upper cervical spinal cord and contiguous structure compression, especially dyspnea due to diaphragmatic paralysis. To our best knowledge, this is the first untreated AAS case reported surviving more than 10 years in English literature.
Case report A 78-year-old man with progressive left side weakness for 4 years was presented to our department. The patient reported that his problem started with left leg weakness and
Y. Jin (&) Department of Neurology, Zhejiang Hospital, 12 Lin’yin Road, Hangzhou 310013, Zhejiang Province, People’s Republic of China e-mail: [email protected]
left knee pain. A left knee X-ray was done with negative finding. He was hospitalized a year later because of left leg weakness, gait disturbance, and elevated systolic blood pressure up to 200 mmHg. He was diagnosed with cerebral infarction and hypertension. The symptomatic therapy did not help him during hospitalization. At that time, he was still able to walk with help. He gradually developed left arm weakness, urgent urination, and urinary incontinence. He was then diagnosed benign prostatic hyperplasia and underwent prostatectomy, but urinary tract symptoms did not get any better. His left side weakness aggravated, and he was unable to stand by himself. He developed painful spasm on the left leg, which appeared 5–6 times a day and lasted a few seconds each time. He presented severe orthostatic hypotension, and his blood pressure fluctuated dramatically within a very short time from 80/50 to 190/100 mmHg. He complained of dizziness, fatigue, loss of appetite, left ear hearing loss, pain in left temporal area of head, and also in his neck and back, tightness feeling in shoulders, chest, and left lower extremity with frequent lower extremities painful spasm. He also complained of urinary incontinence and constipation. After the neck X-ray and CT scan, he was diagnosed of AAS with ADI 5.6 mm and spinal cord compression. A rigid cervical collar and surgery were recommended to the patient, yet he steadfastly refused to accept any of them. The patient was confined to wheelchair 5 years after disease onset. He began to experience shortness of breath and dyspnea 7 years after his initial symptoms. He had to raise his head, extend his neck, and shrug his shoulders while inhaling, and his respiratory rate was up to 30 bpm. He also reported that he had difficulty in swallowing solid food, but swallowing was easier with liquid. At the 11th year of his disease, he spent most of the time on bed and could keep sitting not more than 2.5 h because of shortness of breath.
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Aging Clin Exp Res
Fig. 1 Sagittal MRI revealed atlantoaxial subluxation and obvious C1-level spinal cord compression
The patient was quite healthy before left leg weakness started. He denied any chronic disease like hypertension, hyperlipidemia, rheumatoid arthritis or any inflammatory diseases or traumatic injury in the neck before the symptoms started. He had no alcohol and cigarette abuse. His vital signs were stable except for increased respiratory rate. Neurological examination revealed restricted neck movement to left and slight torticollis. Cranial nerves were intact. Sensation was decreased below the level of neck especially on the right side. Muscle strength: left upper extremity 3/5, left lower extremity 4-/5, right upper, and lower extremities 4?/5. Left abdominal reflex was negative, while right side was positive. Both lower extremity deep tendon reflexes were increased. Hematology exams were unremarkable. The rheumatoid factors, ESR, and ANA were normal. ECG indicated bradycardia of 50 bpm. Neck CT and MRI revealed odontoid dislocation and ventral spinal cord compression at C1 level (Fig. 1). Thorax X-ray was performed in succession. Serial radiographies showed that left diaphragm gradually elevated (Fig. 2a–c).
Discussion Anatomically, the atlantoaxial joint is designed for head flexion, extension, and rotary motion, which provides onehalf of all cervical rotation, permitting 40° of rotation to
123
Aging Clin Exp Res b Fig. 2 a–c These chest X-rays were done at the a 3rd year,
b 5th year, c 8th year after onset. Serial radiographies show that left diaphragm elevated gradually and markedly with right diaphragm slightly elevated and heart moved toward right
each side. The primary stabilizer of the atlantoaxial joint is the transverse ligament which forms the posterior support of the odontoid process, preventing excessive shifts of C1 on C2, and the secondary stabilizers are the alar ligaments [1]. It is considered that disruption or laxity of transverse ligament is a key event to cause anterior AAS [6]. Mild AAS patients often manifest with neck pain [7, 8], limited neck movement [4, 9], wryneck [3, 10], and isolated sensory symptoms [2, 6], some of which are nonspecific so that sometimes they might lead to delayed or error diagnosis [9]. In severe cases with myelopathy, patients may present with neurological deficits such as quadriplegia, paresthesia, limb spasm, and incontinence of sphincter [8, 11]. Besides these familiar symptoms previously listed, patients might also complain of occipital headaches, which may be secondary to an occipital neuralgia precipitated by compression of the greater occipital branch of C2. If the greater auricular branch is involved, then the patient may develop ear pain. In this case, the patient reported a few rare symptoms during the course of disease, including left ear hearing loss, dysphagia, bradycardia, and wildly fluctuating blood pressure. Our study suggested the compression on ventrolateral medulla that plays a critical role in regulation of arterial blood pressure, heart rate, and lower brain stem cranial nerve nuclei VIII, IX may account for all these problems. C1 compression severing bulbospinal inputs to ipsilateral phrenic motoneurons resulted in an electrically silent phrenic nerve and diaphragm on the side of the lesion [12, 13], which gave rise to the presence of dyspnea in this patient. To the best of our knowledge, this is the first AAS case reported to have spontaneous unilateral diaphragmatic paralysis. Atlantoaxial subluxation is most often seen as a result of traumatic injury [3, 4, 6, 8] and rheumatoid arthritis [14]. AAS secondary to peripharyngeal tissue infection is called Grisel’s syndrome [1, 10]. Congenital diseases such as spondyloepiphyseal dysplasia congenital [2] and Down’s syndrome, as well as some osteoarthritis [15] also contribute to AAS in a few cases. In our case, the patient is quite healthy before symptoms started, so the etiology of our case is still unknown. Ikuko et al. have reported a case of AAS accompanied with retro-odontoid pseudotumor [5], which share some common characters with our case, including the late onset age, insidious starting, slow progression, lack of definite cause, and absence of hematological or biochemical abnormalities. So we supposed that AAS might be caused through an unknown mechanism, perhaps degenerative changes in elderly patients.
It is important to early diagnose and treat AAS to prevent further neurological complications. In general, all atlantoaxial dislocations require spinal column stabilization [3]. The stabilization can be achieved through a rigid cervical collar or halo traction. In one report, lateral view radiographs of the cervical spine revealed a stiff collar was able to significantly stabilize AAS in more than half of the cases [16]. Decompression and arthrodesis is an effective surgery approach, which has been widely used in treating AAS. Early surgery intervention has proved to have a good outcome in most cases [2, 5, 8, 9]. Patients with subluxation and signs of spinal cord compression have a grave prognosis without surgical intervention to provide stability to the spine. The beneficial effects of surgery were illustrated in an observational study that compared 19 patients with symptomatic AAS who underwent laminectomy and occipitocervical fusion with those of 21 others who were managed conservatively [17]. The 5- and 10-year survival rates for those who were operated upon were 84 and 37 %, respectively. In contrast, none of the 21 patients managed conservatively survived more than 8 years. Neurological improvement was noted in 68 % following surgery, while in the nonoperative group, 76 % had neurological deterioration. It is a regret that our patient insists on remaining untreated leading to gradually deterioration during these years. Conflict of interest
None.
References 1. Guleryuz A, Bagdatoglu C, Duce MN, Talas DU, Celikbas H, Ko¨ksel T (2002) Grisel’s syndrome. J Clin Neurosci 9(1):81–84 2. Miyoshi K, Nakamura K, Haga N, Mikami Y (2004) Surgical treatment for atlantoaxial subluxation with myelopathy in spondyloepiphyseal dysplasia congenita. Spine 29(21):E488– E491 3. Moore KR, Frank EH (1995) Traumatic atlantoaxial rotatory subluxation and dislocation. Spine 20(17):1928–1930 4. Wang W, Kong L, Dong R, Zhao H (2007) Fracture of the hyoid bone associated with atlantoaxial subluxation: a case report and review of the literature. Am J Forensic Med Pathol 28(4): 345–347 5. Yamaguchi I, Shibuya S, Arima N, Oka S, Kanda Y, Yamamoto T (2006) Remarkable reduction or disappearance of retroodontoid pseudotumors after occipitocervical fusion. Report of three cases. J Neurosurg Spine 5(2):156–160 6. Miyamoto H, Doita M, Nishida K, Yagi M, Iwasaki Y, Yoshiya S, Kurosaka M (2004) Traumatic anterior atlantoaxial subluxation occurring in a professional rugby athlete: case report and review of literature related to atlantoaxial injuries in sports activities. Spine 29(3):E61–E64 7. Bekelis K, Gottfried ON, Wolinsky JP, Gokaslan ZL, Omeis I (2010) Severe dysphagia secondary to posterior C1–C3 instrumentation in a patient with atlantoaxial traumatic injury: a case report and review of the literature. Dysphagia 25(2):156–160 8. Yin Q, Ai F, Zhang K, Chang Y, Xia H, Wu Z, Quan R, Mai X, Liu J (2005) Irreducible anterior atlantoaxial dislocation: one-
123
Aging Clin Exp Res
9.
10.
11.
12.
stage treatment with a transoral atlantoaxial reduction plate fixation and fusion. Report of 5 cases and review of the literature. Spine 30(13):E375–E381 Hettiaratchy S, Ning C, Sabin I (1998) Nontraumatic atlantooccipital and atlantoaxial rotatory subluxation: case report. Neurosurgery 43(1):162–164 discussion 164–165 Pilge H, Prodinger PM, Bu¨rklein D, Holzapfel BM, Lauen J (2011) Nontraumatic subluxation of the atlanto-axial joint as rare form of acquired torticollis: diagnosis and clinical features of the Grisel’s syndrome. Spine 36(11):E747–E751 Salinsky JP, Scuderi GJ, Crawford AH (2007) Occipito-atlantoaxial dissociation in a child with preservation of life: a case report and review of the literature. Pediatr Neurosurg 43:137–141 Golder FJ, Fuller DD, Davenport PW, Johnson RD, Reier PJ, Bolser DC (2003) Respiratory motor recovery after unilateral spinal cord injury: eliminating crossed phrenic activity decreases tidal volume and increases contralateral respiratory motor output. J Neurosci 23(6):2494–2501
123
13. Golder FJ, Reier PJ, Bolser DC (2001) Altered respiratory motor drive after spinal cord injury: supraspinal and bilateral effects of a unilateral lesion. J Neurosci 21:8680–8689 14. Kim DH, Hilibrand AS (2005) Rheumatoid arthritis in the cervical spine. J Am Acad Orthop Surg 13(7):463–474 15. Daumen-Legre´ V, Lafforgue P, Champsaur P, Chagnaud C, Pham T, Kasbarian M, Acquaviva PC (1999) Anteroposterior atlantoaxial subluxation in cervical spine osteoarthritis: case reports and review of the literature. J Rheumatol 26(3):687–691 16. Kauppi M, Anttila P (1996) A stiff collar for the treatment of rheumatoid atlantoaxial subluxation. Br J Rheumatol 35(8): 771–774 17. Matsunaga S, Sakou T, Onishi T, Hayashi K, Taketomi E, Sunahara N, Komiya S (2003) Prognosis of patients with upper cervical lesions caused by rheumatoid arthritis: comparison of occipitocervical fusion between C1 laminectomy and nonsurgical management. Spine 28(14):1581–1587
CASE REPORT
An aged patient with 11-year untreated progressive atlantoaxial subluxation manifesting with dyspnea due to unilateral diaphragmatic paralysis: a case report and literature review Yu Jin
Received: 30 December 2013 / Accepted: 8 April 2014 Ó Springer International Publishing Switzerland 2014
Introduction Atlantoaxial subluxation (AAS) is a condition in which the C1 and C2 vertebraes of the cervical spine are malaligned, with the potential to cause spinal cord injury, leading to neural damage, paralysis, or even death. This pathogenesis is frequently caused by trauma, inflammatory diseases, and congenital diseases [1–3]. Patients with AAS need to be early diagnosed and treated to prevent further severe neurological complications. Stiff collar, halo traction, and surgery are common means to stabilize the spine and decompress the spinal cord, and the prognosis is always pleasing after appropriate treatment [2–5]. We present an AAS patient who was misdiagnosed for a long time. While even after confirmed diagnosis of AAS, he refused external immobilization and surgical treatment. This patient gradually manifested with a variety of symptoms related to upper cervical spinal cord and contiguous structure compression, especially dyspnea due to diaphragmatic paralysis. To our best knowledge, this is the first untreated AAS case reported surviving more than 10 years in English literature.
Case report A 78-year-old man with progressive left side weakness for 4 years was presented to our department. The patient reported that his problem started with left leg weakness and
Y. Jin (&) Department of Neurology, Zhejiang Hospital, 12 Lin’yin Road, Hangzhou 310013, Zhejiang Province, People’s Republic of China e-mail: [email protected]
left knee pain. A left knee X-ray was done with negative finding. He was hospitalized a year later because of left leg weakness, gait disturbance, and elevated systolic blood pressure up to 200 mmHg. He was diagnosed with cerebral infarction and hypertension. The symptomatic therapy did not help him during hospitalization. At that time, he was still able to walk with help. He gradually developed left arm weakness, urgent urination, and urinary incontinence. He was then diagnosed benign prostatic hyperplasia and underwent prostatectomy, but urinary tract symptoms did not get any better. His left side weakness aggravated, and he was unable to stand by himself. He developed painful spasm on the left leg, which appeared 5–6 times a day and lasted a few seconds each time. He presented severe orthostatic hypotension, and his blood pressure fluctuated dramatically within a very short time from 80/50 to 190/100 mmHg. He complained of dizziness, fatigue, loss of appetite, left ear hearing loss, pain in left temporal area of head, and also in his neck and back, tightness feeling in shoulders, chest, and left lower extremity with frequent lower extremities painful spasm. He also complained of urinary incontinence and constipation. After the neck X-ray and CT scan, he was diagnosed of AAS with ADI 5.6 mm and spinal cord compression. A rigid cervical collar and surgery were recommended to the patient, yet he steadfastly refused to accept any of them. The patient was confined to wheelchair 5 years after disease onset. He began to experience shortness of breath and dyspnea 7 years after his initial symptoms. He had to raise his head, extend his neck, and shrug his shoulders while inhaling, and his respiratory rate was up to 30 bpm. He also reported that he had difficulty in swallowing solid food, but swallowing was easier with liquid. At the 11th year of his disease, he spent most of the time on bed and could keep sitting not more than 2.5 h because of shortness of breath.
123
Aging Clin Exp Res
Fig. 1 Sagittal MRI revealed atlantoaxial subluxation and obvious C1-level spinal cord compression
The patient was quite healthy before left leg weakness started. He denied any chronic disease like hypertension, hyperlipidemia, rheumatoid arthritis or any inflammatory diseases or traumatic injury in the neck before the symptoms started. He had no alcohol and cigarette abuse. His vital signs were stable except for increased respiratory rate. Neurological examination revealed restricted neck movement to left and slight torticollis. Cranial nerves were intact. Sensation was decreased below the level of neck especially on the right side. Muscle strength: left upper extremity 3/5, left lower extremity 4-/5, right upper, and lower extremities 4?/5. Left abdominal reflex was negative, while right side was positive. Both lower extremity deep tendon reflexes were increased. Hematology exams were unremarkable. The rheumatoid factors, ESR, and ANA were normal. ECG indicated bradycardia of 50 bpm. Neck CT and MRI revealed odontoid dislocation and ventral spinal cord compression at C1 level (Fig. 1). Thorax X-ray was performed in succession. Serial radiographies showed that left diaphragm gradually elevated (Fig. 2a–c).
Discussion Anatomically, the atlantoaxial joint is designed for head flexion, extension, and rotary motion, which provides onehalf of all cervical rotation, permitting 40° of rotation to
123
Aging Clin Exp Res b Fig. 2 a–c These chest X-rays were done at the a 3rd year,
b 5th year, c 8th year after onset. Serial radiographies show that left diaphragm elevated gradually and markedly with right diaphragm slightly elevated and heart moved toward right
each side. The primary stabilizer of the atlantoaxial joint is the transverse ligament which forms the posterior support of the odontoid process, preventing excessive shifts of C1 on C2, and the secondary stabilizers are the alar ligaments [1]. It is considered that disruption or laxity of transverse ligament is a key event to cause anterior AAS [6]. Mild AAS patients often manifest with neck pain [7, 8], limited neck movement [4, 9], wryneck [3, 10], and isolated sensory symptoms [2, 6], some of which are nonspecific so that sometimes they might lead to delayed or error diagnosis [9]. In severe cases with myelopathy, patients may present with neurological deficits such as quadriplegia, paresthesia, limb spasm, and incontinence of sphincter [8, 11]. Besides these familiar symptoms previously listed, patients might also complain of occipital headaches, which may be secondary to an occipital neuralgia precipitated by compression of the greater occipital branch of C2. If the greater auricular branch is involved, then the patient may develop ear pain. In this case, the patient reported a few rare symptoms during the course of disease, including left ear hearing loss, dysphagia, bradycardia, and wildly fluctuating blood pressure. Our study suggested the compression on ventrolateral medulla that plays a critical role in regulation of arterial blood pressure, heart rate, and lower brain stem cranial nerve nuclei VIII, IX may account for all these problems. C1 compression severing bulbospinal inputs to ipsilateral phrenic motoneurons resulted in an electrically silent phrenic nerve and diaphragm on the side of the lesion [12, 13], which gave rise to the presence of dyspnea in this patient. To the best of our knowledge, this is the first AAS case reported to have spontaneous unilateral diaphragmatic paralysis. Atlantoaxial subluxation is most often seen as a result of traumatic injury [3, 4, 6, 8] and rheumatoid arthritis [14]. AAS secondary to peripharyngeal tissue infection is called Grisel’s syndrome [1, 10]. Congenital diseases such as spondyloepiphyseal dysplasia congenital [2] and Down’s syndrome, as well as some osteoarthritis [15] also contribute to AAS in a few cases. In our case, the patient is quite healthy before symptoms started, so the etiology of our case is still unknown. Ikuko et al. have reported a case of AAS accompanied with retro-odontoid pseudotumor [5], which share some common characters with our case, including the late onset age, insidious starting, slow progression, lack of definite cause, and absence of hematological or biochemical abnormalities. So we supposed that AAS might be caused through an unknown mechanism, perhaps degenerative changes in elderly patients.
It is important to early diagnose and treat AAS to prevent further neurological complications. In general, all atlantoaxial dislocations require spinal column stabilization [3]. The stabilization can be achieved through a rigid cervical collar or halo traction. In one report, lateral view radiographs of the cervical spine revealed a stiff collar was able to significantly stabilize AAS in more than half of the cases [16]. Decompression and arthrodesis is an effective surgery approach, which has been widely used in treating AAS. Early surgery intervention has proved to have a good outcome in most cases [2, 5, 8, 9]. Patients with subluxation and signs of spinal cord compression have a grave prognosis without surgical intervention to provide stability to the spine. The beneficial effects of surgery were illustrated in an observational study that compared 19 patients with symptomatic AAS who underwent laminectomy and occipitocervical fusion with those of 21 others who were managed conservatively [17]. The 5- and 10-year survival rates for those who were operated upon were 84 and 37 %, respectively. In contrast, none of the 21 patients managed conservatively survived more than 8 years. Neurological improvement was noted in 68 % following surgery, while in the nonoperative group, 76 % had neurological deterioration. It is a regret that our patient insists on remaining untreated leading to gradually deterioration during these years. Conflict of interest
None.
References 1. Guleryuz A, Bagdatoglu C, Duce MN, Talas DU, Celikbas H, Ko¨ksel T (2002) Grisel’s syndrome. J Clin Neurosci 9(1):81–84 2. Miyoshi K, Nakamura K, Haga N, Mikami Y (2004) Surgical treatment for atlantoaxial subluxation with myelopathy in spondyloepiphyseal dysplasia congenita. Spine 29(21):E488– E491 3. Moore KR, Frank EH (1995) Traumatic atlantoaxial rotatory subluxation and dislocation. Spine 20(17):1928–1930 4. Wang W, Kong L, Dong R, Zhao H (2007) Fracture of the hyoid bone associated with atlantoaxial subluxation: a case report and review of the literature. Am J Forensic Med Pathol 28(4): 345–347 5. Yamaguchi I, Shibuya S, Arima N, Oka S, Kanda Y, Yamamoto T (2006) Remarkable reduction or disappearance of retroodontoid pseudotumors after occipitocervical fusion. Report of three cases. J Neurosurg Spine 5(2):156–160 6. Miyamoto H, Doita M, Nishida K, Yagi M, Iwasaki Y, Yoshiya S, Kurosaka M (2004) Traumatic anterior atlantoaxial subluxation occurring in a professional rugby athlete: case report and review of literature related to atlantoaxial injuries in sports activities. Spine 29(3):E61–E64 7. Bekelis K, Gottfried ON, Wolinsky JP, Gokaslan ZL, Omeis I (2010) Severe dysphagia secondary to posterior C1–C3 instrumentation in a patient with atlantoaxial traumatic injury: a case report and review of the literature. Dysphagia 25(2):156–160 8. Yin Q, Ai F, Zhang K, Chang Y, Xia H, Wu Z, Quan R, Mai X, Liu J (2005) Irreducible anterior atlantoaxial dislocation: one-
123
Aging Clin Exp Res
9.
10.
11.
12.
stage treatment with a transoral atlantoaxial reduction plate fixation and fusion. Report of 5 cases and review of the literature. Spine 30(13):E375–E381 Hettiaratchy S, Ning C, Sabin I (1998) Nontraumatic atlantooccipital and atlantoaxial rotatory subluxation: case report. Neurosurgery 43(1):162–164 discussion 164–165 Pilge H, Prodinger PM, Bu¨rklein D, Holzapfel BM, Lauen J (2011) Nontraumatic subluxation of the atlanto-axial joint as rare form of acquired torticollis: diagnosis and clinical features of the Grisel’s syndrome. Spine 36(11):E747–E751 Salinsky JP, Scuderi GJ, Crawford AH (2007) Occipito-atlantoaxial dissociation in a child with preservation of life: a case report and review of the literature. Pediatr Neurosurg 43:137–141 Golder FJ, Fuller DD, Davenport PW, Johnson RD, Reier PJ, Bolser DC (2003) Respiratory motor recovery after unilateral spinal cord injury: eliminating crossed phrenic activity decreases tidal volume and increases contralateral respiratory motor output. J Neurosci 23(6):2494–2501
123
13. Golder FJ, Reier PJ, Bolser DC (2001) Altered respiratory motor drive after spinal cord injury: supraspinal and bilateral effects of a unilateral lesion. J Neurosci 21:8680–8689 14. Kim DH, Hilibrand AS (2005) Rheumatoid arthritis in the cervical spine. J Am Acad Orthop Surg 13(7):463–474 15. Daumen-Legre´ V, Lafforgue P, Champsaur P, Chagnaud C, Pham T, Kasbarian M, Acquaviva PC (1999) Anteroposterior atlantoaxial subluxation in cervical spine osteoarthritis: case reports and review of the literature. J Rheumatol 26(3):687–691 16. Kauppi M, Anttila P (1996) A stiff collar for the treatment of rheumatoid atlantoaxial subluxation. Br J Rheumatol 35(8): 771–774 17. Matsunaga S, Sakou T, Onishi T, Hayashi K, Taketomi E, Sunahara N, Komiya S (2003) Prognosis of patients with upper cervical lesions caused by rheumatoid arthritis: comparison of occipitocervical fusion between C1 laminectomy and nonsurgical management. Spine 28(14):1581–1587
