Large C4/5 Spondylotic Disc Bulge Resulting in Spinal Stenosis and Myelomalacia in a Klippel-Feil Patient

Introduction

K lippel-Feil (KF) syndrome is a relatively rare congenital disorder occurring in 1:40,000–42,000 births. ¹ The majority of patients with KF (74%) present with a clinical triad of symptoms including a low posterior hairline, short neck, and limited cervical range of motion. ² Myriad associated congenital anomalies can also be seen with this syndrome including malformations of the renal, cardiovascular, central nervous, and skeletal systems. ³ However, the “hallmark” sign of this condition is the congenitally fused cervical segments.

Even though these abnormalities are present at birth, the resulting symptoms may not be present until later in life, particularly when the congenital malformation leads to instability, hypermobility, or symptomatic stenosis. ¹ The most common complaints of patients with congenital synostosis of the cervical spine are head and neck pain, neurologic symptoms such as radiculopathy, and decreased range of motion in the neck. ^{1,3 –5} Neurologic, myelopathic, and biomechanical problems typically lead patients to seek care. ¹ Conservative management of these patients may be considered.

Case Report

A 39-year-old man was referred by his chiropractor for a consultation on whether or not Cox cervical flexion–distraction manipulation would be a reasonable alternative to the decompression surgery with fusion that was recommended by the patient's neurosurgeon.

The patient's subjective complaints included several months' duration of pain and stiffness in his neck with numbness in all of his fingers bilaterally. The numbness was more pronounced distally and on the right, with the middle three fingers primarily affected. He also reported a more recent onset of progressively worsening pain radiating down his left leg from the inner thigh to his foot with numbness in his left foot. His primary care physician ordered blood work to rule out peripheral neuropathy due to conditions such as diabetes mellitus. These laboratory studies did not determine an etiology of his neurological complaints. The recommendation for this patient was to increase his exercise regimen for general conditioning and weight loss.

During the history, this patient reported that his left foot occasionally “jumps” or moves involuntarily. His wife relayed that his foot frequently shakes at night while sleeping. He reported noticing no weakness in his legs; however, he did report a loss of fine motor control in the fingers that affected his activities of daily living. He reported making frequent errors while typing due to difficulty feeling the buttons on his computer keyboard. He noticed a progressive loss of grip strength and that when writing, his pen often feels like it is slipping out of his hands because he is unable to hold it firmly.

Imaging brought in by the patient included a magnetic resonance imaging scan (MRI) of his lumbar spine, bilateral hips, and sacroiliac joints. The findings were reported as normal with the exception of minor degenerative changes at the L4/5 level with no disc herniations or stenosis.

The cervical spine MRI brought in by the patient included T1-weighted, T2-weighted, and stir sagittal images, as well as T2-weighted coronal and gradient echo axial images of the C2/3 through C7/T1 levels. C2/3 was reported as unremarkable. C3/4 had a rudimentary disc and congenital fusion, with the spinous processes being separate.

The C4/5 level had a disc decreased in T2 signal intensity but normal in stature. There was a large circumferential disc bulge with adjacent endplate spur formation anteriorly and posterolaterally. No focal disc herniation was reported; however, the disc–osteophyte complex (Fig. 1) produced moderate-to-marked central canal stenosis with compression and displacement of the adjacent spinal cord. Bilateral uncovertebral joint degeneration produced moderate-to-marked bilateral foraminal stenosis with probable impingement on the exiting C5 nerve roots. There was a focal region of abnormal increased signal within the spinal cord parenchyma at this level. The spinous processes at that level had an abnormal appearance with no distinct cortex seen, as well as a generalized increased signal in that area.

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FIG. 1.

Sequential sagittal magnetic resonance images demonstrating large C4/5 disc–osteophyte complex, spinal stenosis, and myelomalacia.

A congenital nonsegmentation anomaly with a rudimentary disc and fused spinous processes was noted at C5/6. The disc was decreased in its T2 signal intensity with normal stature and a circumferential disc bulge. Uncovertebral arthrosis was present bilaterally with narrowing of the intervertebral foramina; however, no mechanical compression of the spinal cord or nerve roots was demonstrated at this level. The C7/T1 segment was unremarkable. The sagittal curve was straightened with a levoscoliosis in the mid-to-lower cervical region and a dextroscoliosis of the mid-to-upper cervical region.

The radiologist's impressions concluded that this large C4/5 spondylotic disc bulge produced moderate-to-severe central canal and intervertebral foraminal stenosis that compressed and displaced the cord. The region of abnormal increased signal intensity on the T2-weighted images in the spinal cord parenchyma was consistent with myelomalacia. KF syndrome with an abbreviated segmentation defect at C3/4 and a congenital block vertebra at C5/6 was noted with mild degenerative disc disease and bulging at C6/7.

Prior intervention for this patient's condition included chiropractic manipulation to his cervical and lumbar spine and physical therapy for his lumbar spine. However, his lower and upper extremity symptoms continued to worsen and the cervical symptoms did not improve. This patient was evaluated by a neurosurgeon the day before this consultation. The surgeon stressed the importance of undergoing surgery within the next 2 weeks, stating that with his current condition even a mild car accident could be catastrophic. The patient and the patient's referring chiropractor were seeking a second opinion to see if there was any possibility that surgery could be prevented, specifically with the Cox flexion–distraction manipulation procedure.

During the examination, special attention was given to evaluating any objective evidence of upper motor neuron pathology in this patient. Orthopedic testing and ranges of motion of the cervical spine were limited in order to prevent aggravation of this patient's condition.

Visual inspection revealed significant facial asymmetry, appearance of a short neck, and a severely deformed and hypoplastic right external ear. He was previously informed that his ear and facial deformities were due to the fact that his mother fell down a flight of stairs when he was in utero, thus causing his fist to impact and damage his facial nerve and external ear. Upon further questioning, the patient reported a history of some urinary tract issues, although no details were recalled.

The neurological examination revealed general hypoesthesia to pinwheel examination at the C6, C7, and C8 dermatomes bilaterally, most marked at C6 on the right. Tromner's finger flick test was positive bilaterally, which was indicative of an upper motor neuron lesion. His upper extremity strength revealed weakness of the bicep muscles bilaterally graded 4 out of 5, and weakness of opposition of the thumb and fifth finger on the right.

Examination of the lumbar spine showed essentially normal results and included negative nerve root stretch tests, negative Valsalva for low back or leg pain, negative orthopedic testing, and normal strength. However, his patellar reflexes were brisk bilaterally. His right ankle reflex elicited two beats of clonus and his left ankle reflex elicited five-to-six beats of clonus. After performing this reflex examination, he reported that when he hooks his feet under the couch to perform abdominal exercises, his left foot repeatedly twitches or jumps, similar to the clonus just elicited.

After the examination and review of the MRI films and reports, it was determined that surgical intervention as recommended by the neurosurgeon would be the best course of action for this patient.

Discussion

KF is a clinically and radiologically complex condition including numerous possible congenital musculoskeletal and organ anomalies, with the common presentation of defects in formation or segmentation of the cervical spine. ¹ Because of the anomalous fusion process and altered spinal biomechanics, individuals with KF syndrome are prone to experience abnormal cervical disc degeneration and spondylosis that is thought to lead to canal stenosis ^{6 –8} and resultant neurologic symptoms, ⁹ similar to adjacent segment disease that is seen in patients who underwent surgical discectomy or arthrodesis of the cervical spine. ^10,11

In one study, patients with KF who were on average 35 years old were assessed for cervical spine abnormalities. ¹² Cervical disc degeneration was found in 100% of subjects, 72.7% had disc herniations, and 18.2% had cervical spine osteophytes. ¹² However, two recent studies have found that pediatric patients with KF have significantly smaller cord dimensions and measurably larger spinal canal dimensions (although not statistically significant) when compared to normal controls. ^4,13 Congenital anomalies of the spine most likely halted the normal vertebral development, leading to a spinal column that was actually wider than average, potentially delaying neurologic compromise until later in life. ⁴

At times, cervical abnormalities in the patient with KF can lead to serious complications even with only a minor trauma. ¹⁴ For example, a 36-year-old man with KF presented after a motor vehicle accident with neck pain, tingling, and motor weakness of his left forearm, mildly increased deep tendon reflexes, and ankle clonus. ¹⁵ The only joints in the cervical spine that were not congenitally fused were C3/4 and C6/7, of which both levels demonstrated significant stenosis. The patient was treated surgically with symptom resolution except for mild posterior neck pain. Elster ¹⁶ discussed a case of a 35-year-old man with KF who accidentally fell against the back of a car, hitting his head and upper back, and was paralyzed. He had multiple congenitally fused cervical spine segments at C2/3, C5/6, and C7/T1. Bilateral facet dislocations were present after the accident between the C4 and C5 with anterior subluxation of the fourth cervical vertebra on the fifth. After surgical intervention, the patient's neural function did not return and he was considered to be a quadriplegic.

Several other cases demonstrate the effects of trauma on patients with KF. A 51-year-old man with KF slipped and fell backward, hitting his head on the floor, sustaining incomplete tetraplegia. ¹⁴ Three (3) other patients with KF presented with tetraparesis, with 2 of them describing only a minor trauma. ² Also, a 16-year-old boy with KF jumped from an 8-foot-high rooftop, causing myelopathy, severe cord compression, and myelomalacia, leading to an anterior and posterior cervical spine fusion followed by use of a halo vest for 3 months. ¹⁷

Chiropractic care is a conservative and nonsurgical therapy, and has been demonstrated to be beneficial for some complex neurologic conditions. For example, in a case series of 27 patients attending a chiropractic clinic with cervical spinal cord compression, all received chiropractic care leading to an average improvement of 31% on the Bournemouth Neck Disability Questionnaire and 3.9 points on the numeric pain rating scale. ¹⁸ No patients experienced major complications. As another example, a 34-year-old woman with KF syndrome was treated with chiropractic care for premature cervical degenerative changes that were causing radiculopathy. ¹⁹ She experienced complete recovery. However, none of these patients had severe or acute myelopathy or advanced signal changes in the spinal cord indicative of myelomalacia.

Although the patient in this case report was referred for the possibility of receiving Cox flexion–distraction decompression manipulation to treat a large C4/5 disc bulge resulting in radiculopathy, it was determined that surgical intervention was the best method of care. The rationale included the severity of his condition, the progressive neurological deficits in the upper and lower extremities including pathological reflexes, and the presence of myelomalacia. This patient was surprised to hear that he had KF syndrome, having never been informed prior to this consultation, especially since the diagnosis helped explain a variety of physical issues throughout his life. After 6 months' time, the patient was called in hopes of determining his postsurgical status. He informed us that he had recently returned to work; however, no other details were given at that time.

This case demonstrates the vital importance of differential diagnostic skills as well as the need to continue fostering improved communication and integration of care among various clinical disciplines for patients presenting with challenging symptoms.

Conclusions

KF syndrome is a condition with the “hallmark” sign of congenitally fused cervical segments. Similar to surgically fused segments, patients with KF frequently develop adjacent segment disease. Conservative care is certainly an option during the initial stages of degeneration. However, the severity of the condition, progressive neurological deficits, pathological reflexes, and myelomalacia are all indicators for possible surgical intervention.