Neuro-Oncology
NF2-related schwannomatosis
Dec. 13, 2024
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Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
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The authors explore current concepts related to back pain in the pediatric population. This article highlights the multifactorial nature of back pain in children and adolescents, with a systematic discussion on the history, varied clinical manifestations, pathophysiology, prognoses, treatments, and diagnostic modalities for each of the etiologies. Additionally, the authors address prenatal trunk development, cutting edge genetic research, and updated epidemiological data.
• The complaint of back pain in the pediatric population is becoming more common and continues to remain a challenge with various rates of definitive diagnosis. | |
• By utilizing a systematic approach to diagnose back pain in the pediatric population, the most common causative factors for back pain can be found and include the following: structural deformities, trauma, inflammatory diseases, malignancy, or infection. | |
• History and physical examination are imperative in guiding the correct diagnosis of back pain. Diagnostic modalities include x-rays, SPECT, MRI scans, and NCS/EMG, all of which can help investigators further pinpoint the diagnosis. | |
• Back pain in children presents in a bimodal age distribution, which correlates with prepubertal and pubertal growth spurts. | |
• Physical therapy, rehabilitation, education, steroid therapy as well as other medications, and surgery are treatment options for back pain. |
The evaluation of pediatric back pain spans across multiple medical disciplinaries, including primary care, emergency department, physical medicine and rehabilitation, orthopedics, rheumatology, oncology, infectious disease, neurosurgery, and neurology, among others. Pediatric neurologists can determine if there is a neurologic cause for the back pain, and, if not, appropriately redirect the patient to other specialties. They can identify patients that have red flags indicative of a non-benign, pathological cause of back pain to guide patients to appropriate specialists and perform a thorough neurologic examination that is critical in identifying at risk patients.
The history and physical examination are critical in the assessment of back pain and should be performed in the context of age (122). Attention must be paid to onset of symptoms, incidence of potential trauma around time of onset, characterization and radiation of pain, and exacerbating and alleviating factors.
Some proposed red flags in the history and examination include the following (24; 144; 89):
(1) Pain in children younger than 10 years of age
(2) Night pain
(3) Persistent pain for more than 4 weeks
(4) History of trauma, fever, weight loss; B-symptoms
In reviewing the past literature, emphasis was placed on the neurologic examination, but the definition of what this entails is very vague. The majority of the publications regarding pediatric back pain are centered in the disciplines of orthopedics and radiology, which can have a different interpretation of what the examination should entail. This is reflected when looking into the history of how evaluation guidelines were designed over the years.
In addition to the red flags proposed in the literature, it is important to rule out any potential spinal symptoms: urinary and fecal incontinence, urinary retention, saddle anesthesia, and sensory level on the trunk.
The reported incidence of back pain in children varies considerably between studies, reportedly between 7% to 72% (130; 183; 65). This heterogeneous outcome can be attributed to higher variability in study parameters; an increased popularity of organized sports over the decades, with increased awareness of the benefits of regular physical activities (91); and the mere fact that the pediatric population undergrows significant musculoskeletal growth, especially during puberty.
The U.S. Department of Health and Human Services published an estimate that 54.1% of children aged 6 to 17 years participated in regular sports (16). There is a growing recognition of the benefits of regular physical activity established at a young age, including better overall mental health (178; 60), higher bone mineral density when girls become adult women (49), decreased cardiovascular risk (66), and decreased obesity and associated metabolic disorders in school-aged children (45). The benefits of regular physical activity also translate to children with underlying conditions that lead to long-term disability (151; 44), congenital or acquired spinal conditions (129; 112), congenital or acquired conditions of the limb (36; 154; 117), and congenital heart conditions (08).
Both over and under regular activities lead to the development of back pain, independent of age (80; 153; 82; 107; 166). There is a greater risk for overuse injuries in children with levels of activity higher than their degree of physical conditioning (56). Sports that require repetitive axial loading, extending, or twisting carry an inherently higher risk of developing exercise-induced back pain (80; 65). Sedentary lifestyles in children lead to obesity and psychosocial difficulties, and the combination of these factures are known to increase risk for developing back pain (81; 106; 131). The American Academy of Pediatrics recommends 60 minutes of activity daily to promote baseline physical health, even for children with mental or physical disabilities (25; 44). Although accommodations are needed for children with disabilities, the opportunity to experience the can-do attitude empowered by participation with acceptable risks is priceless for these children.
Incidents of back pain correlate with the timing of adolescent growth spurts, with a sharp increase in prevalence between the ages of 12 and 18. This reflects the change in mechanical load on the spine during linear growth and pubertal development (78; 107; 67). Combined with the escalation of organized sports intensity during this period (junior high and high school), this age group is at higher risk of developing symptoms of back pain. The lifetime prevalence of back pain is considered like that of adults once the child reaches the age of 18 (80; 79; 23).
The majority of pediatric back pain cases are thankfully benign in etiology but can be quite debilitating (192; 19). Chronic back pain in patients aged 8 to 16 have led to reduced quality of life and increased missed school days (73). However, pediatric back pain was heralded as a rare entity with a high risk for series pathology in the early 2000s (175; 130; 167; 38; 183; 80; 79; 70; 166), which unfortunately led to increased radiation exposure, medical costs, and patient and family anxiety due to the multitudes of diagnostic tests. At least 50% of patients with pediatric back pain have a benign or nonspecific musculoskeletal strain without concern for other organic pathology, even after thorough work-up (24).
In a retrospective study that reviewed 232 patients from birth to 18 years of age who presented to a pediatric emergency department with a chief complaint of back pain, a nonpathologic diagnosis was found in 76.8% of the visits (19). In comparison, benign or nonspecific musculoskeletal strain in adults is estimated to be up to 85%, much higher than the pediatric population (39). Although the majority of pediatric back pain is from benign or nonspecific musculoskeletal causes, this population warrants higher attention to avoid overlooking serious pathologies. Healthcare providers play a critical role in ensuring the back pain is indeed of simple musculoskeletal origin without concerning pathology and additionally providing guidance on appropriate rehabilitative exercises to reverse this injury and prevent chronic suffering. An estimated 10% to 15% of affected children will develop chronic low back pain later in life (81).
For a source of back pain or neck pain to be neurologic in origin implies injury to one or more of the cervical or lumbosacral nerve roots. The official term is “radiculopathy” and is most likely to cause associated motor and sensory deficits.
A comprehensive manual muscle testing is important. The caveat is to truly gauge whether the patient is unable to move due to pain or if it is truly weakness.
Light touch would be sufficient sensory testing for purposes of this evaluation.
Reflexes should include (at minimum) biceps, triceps, patellar, and ankle. Perineal and anal evaluation would be determined by whether there were spinal symptoms present on history.
The combined presence of dermatomal pain or numbness with segmental reflex loss and myotomal weakness approaches specificities of 78% (lumbosacral disease) and 99% (cervical disease). In all cases, myotomal weakness is the most accurate predictor of root disease (64).
Root | Primary location of weakness | Primary location of sensory deficit | Reflex loss |
C4 | Mildly impact trapezius | Cap distribution along the shoulders |
|
C5/6 | Shoulder abduction | C5: Lateral arm | Biceps and brachioradialis |
C7 | Elbow extension | Posterior forearm extending down third digit | Triceps |
C8/T1 | Intrinsic hand muscles | C8: Medial forearm | -- |
L1 | -- | Inguinal region | -- |
L2 | Hip flexion | Proximal anteromedial thigh | -- |
L3/4 | Hip adduction | L3: distal anteromedial thigh + medial knee | Patellar |
L5 | Hip abduction | Lateral thigh | |
S1/2 | Hip extension | Posterior leg | Achilles |
S2-4 | -- | Medial buttock | Bulbocavernosus and anal wink |
Adapted from (31) |
In particular, patellar areflexia is noted to be six to seven times more common in L3 to L4 herniation compared to other levels (180).
Red flag symptoms can indicate a serious underlying problem like malignancy, neoplasm, or infection. Alerting symptoms include an acute onset of pain with no history of trauma, pain that occurs at rest, or pain that causes awakening from sleep. Early morning stiffness and pain are routinely associated with inflammatory etiologies. Back pain with fever, nocturnal pain, and bony tenderness may suggest infectious etiology, whereas recent weight loss and bruising might be indicative of malignancy (122). Red flag symptoms include patient age under 3 years, weight loss, fatigue, bladder or bowel incontinence, and radiculopathy (62). It is imperative to perform a complete review of systems to rule out gastrointestinal or renal etiologies for back pain.
The Spurling test (172; 04; 157; 77). This test is designed to assess cervical radiculopathies and is one of the most studied physical exams for this entity. The test is performed by passive cervical extension with rotation to the affected side and axial compression. A positive test is determined if the maneuver elicits radicular pain ipsilateral to the direction of the head rotation.
In a cross-sectional study, the Spurling test was not very sensitive, but it was specific for cervical radiculopathy that was later confirmed on EMG. The cervical extension induces posterior bulging of the intervertebral disc. Rotation of the head leads to narrowing of the neuroforamina in the cervical spine. Axial compression is applied to mimic exaggerated preexisting nerve root compression.
With a positive Spurling test, the suspected diagnosis is a cervical nerve root compression commonly related to intervertebral disc pathology (eg, herniation).
Shoulder abduction (relief) sign. This test is designed to assess cervical radiculopathies. Active abduction of the symptomatic arm is achieved by the patient placing their ipsilateral hand on their head. A positive test results in relief (or reduction) of cervical radicular symptoms.
Neck distraction test. This test is designed to assess cervical radiculopathies. An active distractive force is applied by the examiner while grasping the patient’s head under the occiput and chin. A positive test results in relief (or reduction) of cervical radicular symptoms.
The straight leg raise (SLR) test (46; 94; 110; 176). This test is designed to assess lumbosacral radiculopathies, specifically at L5/S1, where the majority of the herniated discs occur due to anatomy. The patient is supine, whereas the provider passively raises the affected lower extremity with the knee fully extended. This maneuver accentuates the underlying disc herniation. If pain is elicited in the back, it is most likely a central protrusion. Lateral protrusions elicit leg pain, and intermediate protrusions produce a combination of both pain patterns. The SLR test is valuable in the diagnosis of herniated lumbar discs with apparently high specificity (> 90%).
The slump test (110; 176). This test is designed to assess lumbosacral disc herniations but does not cause root compression as a result. The patient is first seated upright, then instructed to “slump” forward, flexing the thoracic and lumbar spines while maintaining their gaze ahead. Once the patient is fully slumped forward, they flex the cervical spine and extend one knee with passive upward pressure applied by the provider. This will effectively apply increasing tension along the sciatic nerve and subsequently trigger radicular pain. If additional ankle dorsiflexion is applied, the test is renamed as the Lasegue test.
The FABER test (Flexion, Abduction and External Rotation) (07; 133; 173; 169). This test helps identify back pain mimics, including pain from hip pathology of the sacroiliac joint. The patient is placed supine, with the provider passively flexing the knee and hip to 90 degrees while the foot of the examined extremity is placed on the opposite knee (figure 4 position). The test is positive if pain is elicited when the provider gradually pushes the knee downwards towards the examination table, leading to further high abduction and external rotation. Ipsilateral anterior pain would point towards a hip joint pathology, whereas posterior pain would suggest sacroiliac pathology.
Imaging. Several guiding algorithms for pediatric low back pain have been proposed over the years, but these publications focus on use of imaging modalities as opposed to consideration of electrodiagnostic testing. This may be due to the availability of appropriate NCS/EMG for pediatric patients historically, but this modality is now becoming more available.
The majority of the present imaging guidelines base their information on hallmark studies done by Feldman and colleagues in 2000 and 2006 (50; 51). Key findings included the following:
(1) Radiographs led to a diagnosis of pathological pediatric low back pain in 22%, with low sensitivity and specificity.
(2) The use of MRI can increase diagnostic sensitivity to 36% [also noted in subsequent studies (149; 143)].
(3) Radicular type pain, night pain, and abnormal neurologic exams were found to be most predictive. However, the authors did not specify what features of the neurologic examination were the most pertinent.
A prospective study of patients between the ages of 4 and 18 identified the following three factors, with a positive likelihood ratio greater than 1 or close to 1: (1) constant pain; (2) night pain; and (3) abnormal neurologic examination (144). In this study, elements of the neurologic examination included sensory or motor abnormalities, back pain on straight leg raise test, hamstring tightness, and asymmetric abdominal or extremity reflexes. The study showed a 100% predicted probability of achieving a specific diagnosis on imaging work-up if all three predictors are present. However, the caveat is that only two out of the 388 patients evaluated fit these criteria. Approximately 40% predicted probability for specific diagnosis is estimated for those who have 0, 1, or 2 predictors. The authors felt that emphasis should be placed on the neurologic examination because it has the highest specificity in predicting pathology (0.95).
The American College of Radiology published a 2017 guideline regarding the yield of various imaging modalities for pediatric back pain (47). Red flags identified are (1) constant pain, (2) night pain, (3) radicular pain, and (4) pain lasting more than 4 weeks.
A secondary factor is if the neurologic examination is abnormal. An abnormal neurologic exam, even in the absence of the above red flags, should trigger serum testing for infectious, inflammatory, or neoplastic processes. XR is not indicated unless there is preceding trauma. If an MRI study is warranted, total spine with and without contrast is recommended (57; 05; 74; 47). Depending on the size of the patient, one may get higher definition of the spinal structures when ordering the C/T/L spine MRI studies separately as opposed to aiming for a total spine condensed into a single study.
Abnormal neurologic examination with one or more of the identified red flags would prompt both XR and serum testing for infectious, inflammatory, or neoplastic processes. If MRI study is warranted, noncontrast studies can suffice unless there is concern for infectious, inflammatory, or neoplastic processes on serum studies, for which with and without contrast modality is required (05; 143; 47; 126). CT, either with or without contrast, is not as beneficial as the MRI study and, therefore, not typically warranted. In situations in which MRI is contraindicated or has limited diagnostic value due to known hardware implantation, CT myelogram is considered, although it carries the risk of the invasiveness and degree of radiation required for the study. Technetium-99m bone scan with SPECT can be considered if MRI was not diagnostic and when the neurologic examination is abnormal but nonlocalizable (47). Tc-99m whole body bone scan with SPECT improves detection of spondylosis, particularly active spondylosis (09; 47). It is only moderately sensitive in the evaluation of infection and tumor.
Electrodiagnostic. Similar to our adult counterparts, pediatric neurology clinics are also inundated with patients presenting with back pain with concern for a neurologic cause. For back pain to be of neurologic origin, the injury needs to be localized to the spinal cord or the nerve roots. In these cases, neurologic deficits are not subtle. Once inflammatory, infectious, or oncological causes are ruled out by blood test and imaging, the remaining question is whether the condition (either identified or not identified) led to nerve root compression, thus, the perpetual pain. The best method for evaluation is with nerve conduction studies and electromyography (NCS/EMG).
The power of NCS/EMG is the ability to localize the neuropathy (mononeuropathy, radiculopathy, plexopathy), to determine the severity of neuropathy to better gauge the possibility for reinnervation, and to determine the temporal course of the injury (acute vs. chronic, stable vs. unstable) (30; 40; 41).
Shea and colleagues first described how NCS/EMG could identify fibrillation potentials in a specific myotome, thereby supporting a diagnosis of compressive radiculopathy (158). NCS/EMG (particularly the EMG portion) is the most sensitive neurophysiological test for root lesions (18; 92). Utility of the study highly depends on how rigorously the needle EMG was performed. The needle examination has incomplete sensitivity because it requires motor axon loss for abnormalities to be detected (111). Studies place the sensitivity of electrodiagnostic testing for active radiculopathy at 43% to 79%, owing to a wide variation in EMG protocols, the definition of a positive study, and which gold standard was used. Reported specificities range widely from 40% to 100% (28; 32; 121). One study reported that abnormal electrophysiological findings were noted in 82% of the patients with confirmed lumbosacral radiculopathy. Furthermore, EMG can distinguish radiculopathy versus neuropathy, thus, differentiating intrinsic versus peripheral nerve involvement, which requires completely different treatment paradigms (30).
A retrospective study demonstrated that concordant abnormalities are often seen when patients undergo both EMG and MRI testing. The concordance was highest in patients who had motor, sensory, or reflex abnormalities on physical examination (123).
Pathophysiology. Spondylolysis is due to a unilateral or bilateral defect in the pars interarticularis, which may be either congenital or due to a pathological fracture (122; 119). This is most commonly seen in the L4/5 region and is noted to be the most common pathological cause of back pain in pediatrics, accounting for up to 50% of cases in athletic patients (14; 118). Congenital causes of spondylolysis tend to have a gradual onset in pain compared to acquired cases (55). Acquired cases are most often seen in repetitive microtrauma due to excessive lumbar extension, such as in tennis, football, dance, and gymnastics (58; 35). Spondylolysis is usually asymptomatic until the onset of puberty, which coincides with the experience of rapid linear growth (62).
Spondylolysis can evolve into spondylolisthesis, which occurs when a defect in the pars interarticularis leads to forward translation of one vertebra in relation to the next vertebra, often seen in bilateral pars interarticularis defects (12; 168; 174).
Clinical presentation. Patients with spondylolysis complain of moderate pain in the lumbar region, which is worsened by physical activity and alleviated by rest. The described pain can sometimes radiate to the posterior thigh or buttocks, or both (11), even in the absence of associated nerve root irritation. Advanced spondylolisthesis can present with hamstring tightness and a “crab-like” gait with knee and hip flexion. When individuals with advanced spondylolisthesis are observed from the side, they may show flattening of the lumbar lordosis as well as vertically oriented sacrum. Additionally, in very serious cases, a “stair step” can be palpated at the level of slippage (68).
Paravertebral spasm, hyper lumbar lordosis, loss of normal lordosis, limited lumbar extension and flexion, and localized tenderness can sometimes be observed on physical examination (35).
Early identification and appropriate treatment of spondylolysis can prevent progression to spondylolisthesis, particularly in young athletes.
There is a known genetic component with spondylolysis and spondylolisthesis. It is five times more likely to occur in patients with first-degree relatives carrying this diagnosis. There also appears to be correlation with incidences of spinal bifida as well (02; 174).
Work-up. XR, MRI, and SPECT are recommended.
Treatment. The majority of cases improve with conservative treatment, which includes use of NSAIDs and physical therapy. Bracing can be used to reduce axial strain but does not seem to influence outcome. The bony defect may continue to be present despite the resolution of clinical symptoms (93). It is beneficial for the patient to have at least a one-time consultation with an orthopedic specialist.
Pathophysiology. Discitis is described as the infection of the vertebral disc. If allowed to progress, the infection can spread to the vertebral bodies themselves leading to osteomyelitis. Discitis often presents in the lumbosacral area, whereas osteomyelitis can affect any region of the spine. Delayed treatment can result in death, spinal deformities, chronic pain, or segmental instabilities. In order to reduce negative outcomes, early diagnosis and treatment is essential. It can be challenging to diagnose in young toddlers and children, who tend to present with vague symptoms of back pain, difficulty walking, and irritability. A recent infection is routinely present, leading to hematogenous spread to the intervertebral disc (52).
Clinical presentation. Children usually report back pain that is worse with movement, frequently presenting with abnormal gait (160). They will often refuse to bend forward because this will compress a swollen and infected intervertebral disc. Pain is often challenging to localize but persistent. Fever is not always present. Osteomyelitis is more likely to present with a history of fever; however, the absence of fever does not rule out osteomyelitis (52).
Work-up. Serum studies include CBC, CRP, ESR, and blood cultures.
MRI spine with and without contrast is the most ideal imaging modality. AP and lateral spine radiographs can show loss of disc height and sclerosis, but not until 3 to 4 weeks of disease progression (52; 84).
Treatment. Treatment includes prolonged broad spectrum antibiotic therapy for several weeks. The length of antibiotic therapy is based on repeat imaging and response to antibiotics. MRI remains the goal standard for diagnosis and efficacy of treatment (15).
Pathophysiology. Scheuermann kyphosis is a rigid progressive kyphosis of the thoracic spine due to anterior wedging greater than or equal to 5 degrees involving multiple thoracic vertebrae and occurs during adolescence. Some patients may not begin to experience back pain due to this condition until much later into adulthood (191). It typically presents at the onset of the pubertal growth spurt, between 13 and 17 years of age, and is diagnosed based on classic lateral radiograph findings (105). Concurrent spondylosis was found in up to a third of the patients (128).
The incidence of disease is between 0.4% and 8.3%. Previously, it was thought that the male to female ratio was 2:1 (33), but it is now believed to be closer to 1. Between 30% and 60% of the patients complain of pain in the midthoracic interscapular area between T7 and T9, which corresponds with the apex of the deformity (63).
The etiology of this condition is currently unclear. Several theories were debunked, including osteonecrosis of the ring apophysis in the vertebral body leading to arrest of anterior growth and osteoporosis. It is known that the condition is caused by defective growth of the vertebral body end plate, the weakest component of the disc-vertebra interface, susceptible to excessive mechanical stress and a key conduit for vascular and nutritional supply to the intervertebral disc. Disorganized end plate ossification and reduced collagen production is seen on histological studies (76; 156; 86).
Clinical presentation. Scheuermann kyphosis typically manifests at between 12 and 15 years of age but may not come to clinical attention until later in life. When the patient is viewed from the side, the Adam forward-bend test shows the gibbus deformity – an abrupt posterior angulation of the thoracic spine. The resultant anteriorly rounded shoulders can lead to contractures and limited shoulder flexion with time (13). There is compensatory increased cervical lordosis forming a “gooseneck” deformity. Similarly, increased lumbar lordosis can lead to strain on the pars interarticularis, placing these patients at risk of developing spondylolysis. The exaggerated lordosis can also lead to hamstring and hip flexor tightness and muscle strain (53). Scoliosis can also be seen concurrently (147).
It is imperative to perform a thorough physical and neurologic exam. Although uncommon, severe cases can have concurrent syrinx, intradural cysts, disc herniations, or cord injury. Acute angulation of the thoracic spine leads to the spinal cord draping directly over the vertebral bodies and, therefore, interrupts typical cerebral spinal fluid flow leading to syrinx and cysts. Severe curvature (> 100 degrees) can cause restricted cardiopulmonary function (120; 103).
Work-up. XR is recommended. If surgery is considered or if the patient has an abnormal neurologic exam, MRI without contrast may be done to assess for potential neural axis anomalies.
Treatment. Progression of this condition is less predictable, unlike scoliosis. Conservative management includes reducing sports with repetitive spinal strain, such as weightlifting. Physical therapy should focus on core strength to improve sagittal posture, but its utility in slowing disease progression remains unclear (184). It is important to work on stretching to prevent shoulder contractures and overtly tight hamstrings.
Bracing is indicated in pediatric patients with an immature skeleton with kyphosis measuring 45 to 65 degrees (184). Braces are discontinued once a patient reaches skeletal maturity; unfortunately, a loss in correction gained during treatment occurs in 30% of compliant patients (17). Surgery is reserved for patients with rigid or fixed curves greater than 70 degrees, severe cosmetic concerns, and any neurologic deficits (103).
Adolescent idiopathic scoliosis remains the most common type, affecting 1% to 4% of adolescents, particularly young women (27). Pediatric patients with immature skeletons are at the highest risk of curve progression, particularly during growth spurts where there is the highest risk of mismatch between skeletal growth and muscle maturation. Bracing is recommended once curvature reaches 20 degrees in hopes of preventing progression to a surgical threshold, which is defined as greater than 50 degrees (90; 42).
Pathophysiology. Disc herniation is typically the result of degenerative changes and is, therefore, uncommon in pediatrics (113; 61; 152). It can still present in the setting of (1) trauma, (2) sports-related injuries with subsequent axial load, such as weightlifting, wrestling, and gymnastics, and (3) obesity. Due to anatomy, L4/5 and L5/S1 are the most frequently involved segments.
Clinical presentation. Patients typically present with radicular pain that appears to be worse in the lower extremities compared to the back. Pain is worse with lumbar flexion and improves with rest. The straight leg raise and slump tests may also be positive (96).
Work-up. Radiographs are typically normal, with MRI without contrast as the best option. However, there is a high false-positive rate on MRI (142).
Treatment. Conservative measures are preferred. Surgical correction was not as successful in pediatrics as in adults but can potentially provide some symptom relief (37; 34; 85; 141).
Disc herniation is likely to present with pain only if it is associated with structural deformities like disc prolapse or Scheuermann disease, which may delay the diagnosis of this process. Patients may present with localized pain and sciatica – a sign of nerve root compression or irritation. One distinctive feature present in the pediatric population with disc herniation is that 90% of patients have a positive straight leg raise test elicited on physical exam. Plain films are not useful in evaluating disc herniation. The gold standard for diagnostics of a herniated disc is followed up with MRI (122).
Apophyseal ring fractures result in avulsion of the posterior arch, leading to bony fragments being displaced in the spinal canal (03). They can be found in all ages and are highly associated with degenerative changes in the elderly and rigorous activity that constantly applies a heavy axial load (weightlifting, wrestling, gymnastics, etc.). Apophyseal ring fractures are surprisingly common in cases of pediatric lumbar disc herniation (26; 75).
Clinical findings and work-up are like that of disc herniation.
Pathophysiology. “Ankylosing spondylitis” is a term used since the 1970s to describe HLA-B27–associated inflammatory disease that predominantly impacts the sacroiliac joints based on radiography. The advent of MRI methods has allowed providers to detect early inflammatory changes prior to the definite arthritic deformation captured on XR (170). As a result, “axial spondylarthritis” is now accepted as more accurate terminology to describe this category.
Nomenclature and classification have also evolved in pediatric-onset situations. The primary overarching term used for pediatric-onset inflammatory arthritis is “juvenile idiopathic arthritis.” This is further divided into several subcategories, with the description of enthesitis-related arthritis befitting the pediatric equivalent of adult-onset axial spondylarthritis (104). Enthesitis-related arthritis is present in approximately 17% of all patients in two large juvenile idiopathic arthritis registries (164). It is important to know that not all enthesitis-related arthritides will have axial manifestations. Juvenile spondylarthritis has also been used as an umbrella term for patients with onset of disease prior to the age of 16 and considered to be on a continuum with adult-onset spondylarthritis (162). Early-onset disease occurs in those less than 5 years of age, with a higher female prevalence, association with dactylitis, ANA positivity, and uveitis. Later-onset conditions tend to have a male prevalence with enthesitis, sacroiliitis, and psoriasis (71; 148). HLA-B21 is positive in up to 12% of the juvenile cases, with a similar incidence in both the late- and early-onset groups, and it does not correlate with risk for axial disease; thus, it is less informative in this population (71; 85).
Gastrointestinal inflammation is strongly correlated with juvenile spondylarthritis, with up to two thirds of patients experiencing concurrent subclinical gut inflammation (116; 59). Although calprotectin can be elevated, the levels vary tremendously and are inaccurate as a maker for inactive or active disease or to distinguish those with or without sacroiliitis on MRI (185).
Clinical presentation. Inflammatory back pain is often dull with insidious onset deep in the lower back or buttocks or is misinterpreted as chest pain. Patients often report morning stiffness that improves with activity but returns after a period of rest. Nighttime pain is not uncommon, particularly starting in the second half of the night (after a period of inactivity), waking the patient, but it improves once the patient moves around (170).
Work-up. XR remains reasonable, but the majority of patients will require MRI with and without contrast for better resolution evaluation. Serum studies, including CBC, CRP, ESR, ANA, and HLA-B27, are all reasonable.
Treatment. Because there is no single laboratory test or imaging result sufficient to arrive at the diagnosis, it is important to obtain at least a one-time consultation from a pediatric rheumatologist if there are concerns for axial spondylarthritis. Treatments may include NSAIDs and TNF-alpha inhibitors.
Primary tumors of the spine are rare in childhood and usually present with vague symptoms of malaise and fatigue. Other commonly associated symptoms include weight loss, fever, and night sweats (96). It is important to note that urinary and stool dysfunction rarely occur prior to the onset of motor and sensory deficits with a truncal level. The presence of urinary and stool dysfunction indicate concern for more advanced disease (McGirt 2008; 72).
The location of the tumor can include extradural, intradural extramedullary, and intramedullary. Due to the tumor location, one third of intramedullary tumors can cause concurrent painful scoliosis.
Location | Type | Tumor |
Extradural | Malignant | Leukemia and lymphoma |
Malignant | Metastatic | |
Malignant | Ewing sarcoma | |
Malignant | Osteosarcoma | |
Benign | Osteoid osteoma | |
Benign | Osteoblastoma | |
Benign | Chondroma/chondrosarcoma | |
Intradural extramedullary | Benign | Meningioma |
Benign | Myxopapillary ependymoma | |
Benign | Peripheral nerve sheath tumors | |
Benign | Dermoid and epidermoid tumors | |
Intramedullary | Malignant/Benign | Astrocytoma |
Benign | Ependymoma | |
Adapted from (72) |
Benign tumors. Osteoid osteoma, osteoblastoma, and aneurismal bone cyst are the most common benign spine tumors of childhood and are all of bone-related origin. Benign tumors elicit inflammation due to osteoblastic activity, thus, leading to painful scoliosis with mass effect (83).
Osteoid osteomas tend to be small in size (< 1.5 cm), with pain that is worse towards the end of the day that responds to NSAIDs. Risk of malignant transformation is low. On the other hand, osteoblastoma are larger on average (> 2 cm), and pain does not tend to resolve with NSAIDS and does have the potential for malignant transformation with local destruction. The larger osteoblastoma and varieties of aneurismal bone cysts often respond well to surgical resection (89).
Because tumors are bone-originated, CT spine tends to be most informative. It is recommended for patients to obtain an oncological and neurosurgical consultation.
Malignancies of the spine include Ewing sarcoma, osteosarcoma, lymphoma, leukemia, and metastatic lesions, among others. Malignant lesions typically (but not always) occur in the anterior portion of the vertebrae, causing symptoms of spinal cord impingement (146).
Due to the destructive nature of Ewing sarcoma and osteosarcoma, XR can be sufficient to demonstrate the lesion, but advanced imaging with CT/MRI/nuclear medicine is subsequently recommended for tumor staging and surgical planning. Treatments can include resection followed by chemoradiation (89).
Hematological malignancies, including lymphoma and leukemia, can present with very vague back pain. These patients may also demonstrate easy bruising with abnormal CBC. Serum testing of CBC, LDH, and uric acid are important. The preferred imaging modality is MRI spine with and without contrast (89). Patients are then referred to pediatric oncologists and neurosurgeons for assessment of treatment and possible resection of tumor (35).
A 12-year-old boy presented to the clinic with a 6-month history of low back pain with radiation to the left hip and right knee. He also had tightness in his hamstrings, left more than right, which was interfering with his gait. He was unable to extend his legs or touch the ground with his hands without bending his knees. His stiffness was worse in the morning and improved throughout the day. Advil® and Motrin® did not alleviate the pain, but heat pads did. He reported no bowel or bladder incontinence. His physical examination was normal for sensation, strength, and muscle bulk, but he had positive straight leg raise test, which was worse on the left leg.
Initially the patient was sent to an orthopedic surgeon by his pediatrician. He was treated with rehab for possible slipped capital femoral epiphysis, which did not help. An MRI pelvis did not support the diagnosis. He was later seen by neurology and referred to a neurosurgery clinic with an MRI of the lumbar spine that revealed a broad-based disc bulge at L5-S1. A microdiscectomy was offered, and the patient underwent the procedure with a minimally invasive approach. The thecal sac was satisfactorily decompressed.
Postoperatively, the patient’s left leg radiculopathy improved though his hamstring tightness persisted. The hamstring tightness subsequently improved with a course of physical therapy.
A key aspect is the unique anatomy of the pediatric back and how it changes throughout childhood. The spinal column is comprised of stacked bony vertebral bodies that articulate with each other through intervertebral discs. The discs are made of fibrocartilaginous anulus fibrosis encased around the gel-like nucleus pulposus. The posterior arch extends posteriorly from the vertebral body, creating an open canal for the spinal cord to pass through. Each posterior arch contains superior and inferior facets to articulate between the facets of adjacent vertebral bodies. This area is also termed the pars interarticularis. As a result, two foramina, one on each side, are formed by facets of adjacent vertebral bodies, which allows nerve roots to exit from the spinal cord and spinal column to the distal extremities. Paraspinal muscles attach to laterally extending processes in the posterior aspect of the vertebral body and are known as the transverse processes (107).
In the pediatric population, the vertebral body is inherently weaker than the posterior bony aspects. There is a growth plate on the superior and inferior aspects of each vertebral body, which starts to ossify around the age of 4 and often stays open until the age of 18 (65).
The body’s natural thoracic kyphosis paired with lumbar lordosis is key to buffering the axial load, which changes as one ages. As a toddler, lumbar lordosis is more notable than the degree of thoracic kyphosis, but both will progress throughout childhood and adolescence. In contrast, the contour of the sacrum is set after the age of 3, which, in effect, produces an increased anterior load and stress on the sacroiliac joint as one grows (54; 108; 109). Muscular strength also evolves as bones mature, causing a constant change of biomechanical musculoskeletal strain driven by growth (27; 22).
Scoliosis is defined as deviation from midline greater than 10 degrees and is measured radiographically as the Cobb angle (22). The spine is rarely straight, and a curvature less than 10 degrees is physiologically typical. Scoliosis can occur idiopathically or due to underlying abnormal truncal muscle tone and strength, congenital or acquired skeletal deformities, neuromuscular weakness, or other causes of truncal and extremity asymmetry (150; 177; 140; 29; 190). The resultant altered mechanical back strain can easily lead to various musculoskeletal causes of back pain.
Sources of back pain include bone, spinal cord, nerve root, and muscle. Etiologies include mechanical compression as well as inflammation and infection.
Sacroiliac joint pain is reported by young athletes with a history of trauma. Young females are susceptible to sacroiliac injury because of the laxity of their developing pelvic girdles. Sacroiliac pain can be differentiated from radiculopathy with electromyelography studies (163).
Spondylolysis, which usually presents in young athletes over the age of 10, is a defect in the pars interarticularis – the weakest part of the vertebral body. This abnormality can be congenital, can follow stress-related injuries, or may manifest in individuals with a genetic predisposition. Gymnastics, ballet, weightlifting, and football are among the activities that cause hyperextension and rotational loading of the spine that lead to repetitive trauma and, consequently, stress-related fractures resulting in spondylolysis (35). Spondylolysis is usually asymptomatic until the onset of puberty, which coincides with the experience of rapid linear growth (62).
Spondylolysis can evolve into spondylolisthesis, which occurs when a defect in the pars interarticularis leads to forward translation of one vertebra in relation to the next vertebra. Oftentimes, the slippage takes place in the fifth vertebral body and is classified into 1 of 4 grades depending on a calculated slippage percentage (100).
Disc herniation in children often requires surgery because the epiphyseal cartilage in this population is not fused, and trauma can cause a mass on the herniated disc. Additionally, the nucleus pulposus in these children is well hydrated, which leads to lower resorption, unlike a similar degenerative lesion in adults (179).
The exact pathophysiology of Scheuermann kyphosis is unclear and remains under debate. Twin studies reveal a genetic component to disease heritability as there is stronger association of Scheuermann kyphosis in monozygotic twins when compared to dizygotic ones (33). Scheuermann originally attributed the deformity to aseptic necrosis of the ring vertebral apophyses (155). However, histological evidence shows irregular mineralization, abnormal endplate vertebral cartilage, disordered vertebral ossification, as well as altered collagen-proteoglycan ratios (06). In a landmark study, 93% of bone specimen from suspected Scheuermann kyphosis cadavers had Schmorl nodes (156). Schmorl nodes are formed when intravertebral discs herniate into the end plate of a vertebral body (124). Associations with Legg-Calvé-Perthes, dural cysts, hypertonia, growth hormone hypersecretion, and infections are also reported in literature (134). It is uncertain if the abnormal histological findings are a result or a cause of the disease (63). Kyphosis may be the first occurring symptom, which leads to increased anterior force, which in turn causes anterior body wedging and, consequently, the radiologic and histologic changes discussed above (186). In a groundbreaking twin genetic study, Damborg and colleagues found the heritability of Scheuermann disease to be about 74% (33).
Young athletes who participate in sports like weightlifting, gymnastics, and wrestling expose their spines to repetitive microtrauma or single trauma, which can cause apophyseal ring fractures. These fractures occur in vertebral bodies before they have been completely fused. Apophyseal fractures take place at the junction of the vertebral body and cartilaginous ring apophysis (58).
Discitis affects young children because the blood supply to the intervertebral disc and the cartilaginous vertebral end plate is different than it is in adults. There are multiple anastomotic channels that communicate between the vertebral end plate and disc in children that provide a hematogenous route of delivery for bacteria to the disc. These channels involute by adolescence, leaving behind end arteries (187).
Spondylodiscitis can occur either by hematogenous or non-hematogenous spread, with hematogenous spread being the most frequent route. Hematogenous spread involves allowing bacteria from distant sites to contaminate the spine in the setting of bacteremia. Infection origin can include respiratory, skin, oral, urinary, or gastrointestinal tract or any implanted device (115).
It is evident that the yearly incidence of back pain is associated with growth and pubertal changes. Back pain seeking medical attention during growth periods increases by 12% at the age of 11 years to 22% by the age of 15. Regarding lower back pain, research suggests pediatric patients are less likely to seek medical treatment, with only 24% of patients seeking medical attention for their symptoms. There is an association between back pain in boys and an increase in physical activity such as playing sports (122). One study of American children and adolescents determined that treatment of back pain was sought in 40.9% of participants, of which physical therapy was the most common. The prevalence of back pain was associated with increasing age and was more common in females (48).
Pediatric nonpathologic spinal pain is associated with older age (> 12 years), time spent with learning or watching TV, uncomfortable school desks, sleeping problems, general discomfort, and positive family history (01). One study of 11,619 children and youth in Poland found a self-reported prevalence of lower back pain of 31%, 51.9%, and 71.2% among children aged 10 to 13, 14 to 16, and 17 to 19 years, respectively (88). However, true prevalence of back pain in children or young adolescents remains undecided, with one review citing a wide range of 7% to 78% (10).
Listed below are the common differential diagnoses of the various etiologies of back pain (35; 62):
Etiology |
Differential diagnosis |
Trauma |
• Intervertebral disc herniation |
Infection |
• Discitis |
Congenital deformities |
• Arachnoid diverticulum |
Neoplasm |
• Aneurysmal bone cyst |
Systemic |
• Juvenile idiopathic arthritis |
The history and physical examination are important in guiding the diagnostic workup for a child with back pain as there is no standard laboratory workup. For example, signs of infection, like fever, malaise, and weight loss, must be investigated by blood culture, chest radiographs, and PPD testing, if indicated. Additionally, a complete blood count with differential acute phase reactants and lactate dehydrogenase are indicated if malignancy is suspected (35).
Although spinal radiography may be the first step to rule out bony tumors, magnetic resonance imaging (MRI) is quite often the golden standard for diagnosis. MRIs can have limitations in the pediatric population as they are expensive and may require the patient to be sedated, which often requires an anesthesia team at a tertiary pediatric hospital (35).
Sacroiliac joint pain can be diagnosed with a proper physical exam; 89% of patients with sacroiliac joint pain in a study had tenderness in the sacral sulcus. Although this physical finding has low specificity, it has the highest positive predictive value of any other physical examination test when combined with maximal pain below L-5 (43). However, the definitive diagnostic test for sacroiliac joint pain is sacroiliac joint block (163).
According to one study, spondylotic lesions are seen on x-ray 30% to 38% of the time (135). The diagnostic test of choice in a young athlete with back pain is lumbar single photon emission computed tomography (SPECT) scan. If the SPECT scan is positive, a CT scan is performed to localize and identify the defect. If the SPECT scan is negative for spondylolysis, then an MRI may be performed to look for other possible etiologies for back pain (182).
AP and lateral x-ray views are the initial diagnostic tests of choice for Scheuermann kyphosis. Schmorl nodes, disc space narrowing, loss of disc space height, kyphotic deformity, and increased anterior-posterior diameter of the apical thoracic vertebrae may be identified on radiographs (35).
Patients who present with discitis often have abnormal x-ray findings. X-ray images show decreased disc space height as well as erosion of adjacent vertebral endplates. Technetium-99m bone scans also show increased uptake in affected areas. Further investigation by MRI can also show the precise nature of these abnormalities (35).
The synovial and inflammatory changes in juvenile idiopathic arthritis are best viewed by MRI scans with contrast. Plain radiographs have the lowest sensitivity for detection of early arthritic changes, and bone scintigraphy and CT scan can provide a diagnosis; however, they are associated with high radiation exposure (35).
Tumors of the spine and spinal cord can be visualized on plain radiographs; however, MRI and CT scans provide a better view of the lesions. MRIs are necessary to localize meningeal, cord, or nerve sheath tumors. Additionally, bone scintigraphy is required to stage malignant bone tumors (35).
A diagnostic algorithm for a child presenting with back pain exists and includes complete blood count, C-reactive protein, computed tomography (FX), erythrocyte sedimentation rate, magnetic resonance imaging, nonsteroidal antiinflammatory drugs, and single-photon emission computed tomography (122).
Diagnostic workup for spondylodiscitis includes an MRI as the detection method of choice for evaluation and identification. In addition to radiologic imaging, laboratory studies such as complete blood count, ESR, CRP, blood cultures, and PCR are obtained. Biopsy may be considered if suspecting spondylodiscitis and blood cultures are negative (115).
Conservative management is usually the first line of therapy for back pain in children; this includes NSAIDs, rest, and physical therapy (35). The most effective management of spinal cord tumors in children is gross total resection by decompressive laminectomy, followed by radiation (132).
There are multiple ways to manage spondylolisthesis, which range from no treatment and observation, to bracing, and finally to surgical management. Wiltse and Jackson created a system to help decide which therapy is most effective (188). Asymptomatic children under 10 years of age with a slippage of 25% or less should be monitored with radiographs every 4 to 6 months. Limitation of activity, thoracolumbar orthosis, and Williams flexion exercises are the most effective options in managing slippages less than 50% (138). Frequency of radiographs can be reduced as the patient ages and eliminated once the patient’s growth spurt has ended. The treatment for a child with slippage greater than 50% is oftentimes surgery, regardless of the presence of symptoms (188). The amount of slippage and the degree of lumbar lordosis are the two main factors that are considered when making a decision to operate (189). The most common and effective procedure is bilateral posterolateral fusion whereby an autologous iliac bone graft is also utilized (102). Slippages less than 50% only require single-level fusion at L5-S1; however, more severe slippages require L4-S1 fusion (139). Studies show that patients who had reduction casts a few days after surgical correction of severe disc slippage and kyphosis had greater outcomes in terms of sagittal translation and kyphosis than those patients who did not have reduction casts (21).
Conservative therapy for disc herniation includes NSAIDs, rest, and physical therapy. However, conservative management is not as effective in managing disc herniation in children as it is in adults (159). Surgery is the recommended treatment for herniated disc when the pain is refractory to 4 to 6 weeks of conservative management, pain affects a patient’s daily activities, if there is presence of cauda equina syndrome or other neurologic deficits, and presence of spinal deformities. Posterior laminectomy with subtotal hemilaminectomy is oftentimes the procedure of choice (136). Percutaneous endoscopic discectomy is also routinely performed and is advantageous because it reduces postoperative soft tissue swelling and pain (114; 34). However, there is limited evidence in the literature discussing whether or not minimally invasive decompression is superior to open discectomies.
Discitis is usually treated with a variable range of antimicrobial therapy; however, some authors believe that discitis in children is a self-limiting condition that does not require antibiotics (161; 87). Recommended therapy can include 10 to 14 days of intravenous antibiotics followed by 4 weeks of oral antibiotic medication (20). The key to successful rehabilitation is spinal immobilization, which can vary from weeks to months (87).
Juvenile idiopathic arthritis is initially managed with nonsteroidal antiinflammatory (NSAID) therapy. Children are often given ibuprofen, indomethacin, or naproxen. In monoarticular juvenile idiopathic arthritis, NSAID therapy can be replaced or added to intraarticular steroid injections of triamcinolone hexacetonide. If a patient’s pain and stiffness are refractory to the therapies mentioned above, low-dose corticosteroids and possibly low-dose methotrexate are used in treatment (181; 145).
In patients with spondylodiscitis, treatment goals are to eradicate infection or neurologic deficits, preserve spinal structure, and relieve pain. Broad spectrum antibiotics in addition to immobilization and physical therapy are the most effective treatment options in most cases. Surgical treatment is only indicated in those patients with spinal cord compression or cauda equina, progressive neurologic deficits, or failure to respond to conservative treatment options (115).
Conservative management of spondylolysis and spondylolisthesis includes cessation of sporting activities and using a spinal brace with lumbar orthosis for at least 3 to 6 months. Previous research suggests bracing has positive effects on healing; however, newer studies suggest bracing has limited effects on healing and approximately 80% of patients heal within a year with rest and physical therapy with emphasis on core training (171). With physical therapy and rehabilitation that includes stretching and strengthening, most patients resume full activity within 6 months of intervention (98). Patients with high-grade slippage who are unresponsive to 6 months of conservative management, or those who have neurologic deficits, may undergo surgery for repair (35). These surgical patients also resume activity within 5 and a half to 6 months postintervention with adequate rehabilitation (137). A multicenter retrospective study of 50 adolescents determined that posterior spinal fusion of spondylolisthesis is associated with a 40% reoperation rate and high rate of postoperative radiculopathy (125). Patients with favorable factors of early detection, unilateral involvement, and location at the fourth lumbar vertebra had the highest likelihood of bony healing (10).
The majority of patients with Scheuermann kyphosis experience resolution of symptoms with over-the-counter NSAID therapy and spinal maturity (35). Most cases are treated with physical therapy and hamstring stretching. Additional interventions may include bracing, but no research supports significant long-term benefits (171). Indications for surgical intervention include severe progressive kyphosis over 70 degrees, back pain refractory to conservative therapy, progression of kyphosis despite bracing, and dissatisfaction with cosmetic deformity (101). Surgical intervention provides significant improvement in deformity. One large literature review on various surgical approaches in Scheuermann disease revealed an average improvement of 30 degrees in kyphosis in postoperative patients (105). Minor complications of surgery include hemothorax, pneumothorax, and wound infection. One of the major complications of surgery is junctional kyphosis, which consequently requires revision surgery (101).
Conservative management of lumbar disc herniation with no neurologic deficits includes NSAIDs, physical therapy, and limitation of activity. Although there is much room for debate on the efficacy of conservative versus surgical management, most authors in the literature state that surgical intervention is superior for children with herniated discs due to the unique nature of the pediatric spine. Additionally, trauma is the most common precipitating factor of disc herniation in the pediatric population. According to one literature review, positive short-term outcome for surgical management was between 93% and 100%. Long-term positive outcome was lower, ranging between 67% and 88%. Minor postoperative complications include wound hematoma and wound infection. Major complications include narrowing of disc space, foraminal stenosis, disc degeneration, and recurrent herniation of the disc at the same level as the initial operation (69; 97).
Discitis in children is a self-limiting condition. Management of discitis is oftentimes conservative and includes immobilization of the spine in order for the lesion to heal as well as antibiotic therapy for 4 to 6 weeks. Sixty-five percent of children in a study by Kayser and colleagues had bony/fibrosis ankylosis of the affected segment in the spine. Interestingly, ankylosis was observed at a lower rate in younger patients. In addition, follow-up at least 10 years of discharge revealed that 80% of patients who returned had no symptoms, and 20% of patients reported back pain (87). All of the patients in the follow-up study had radiograph abnormalities consistent with kyphosis. Some patients also had high-grade intervertebral disc space narrowing as well as fusion of the vertebrae.
Treatment of spinal cord neoplasms requires surgical resection followed by radiation. In a long-term landmark study by O’Sullivan and colleagues, 20-year survival for patients with primary spinal cord tumors was 67% following resection and irradiation (132). However, this condition and treatment is associated with high neurogenic and spinal morbidity. Patients often experience progressive spinal deformities, recurrent tumors, and neurogenic disabilities either due to the primary tumor, the nature of resection, or by the harmful effects of radiation (165). Radiation therapy is reserved for malignant tumors, postoperative regrowth or recurrence, or when there is substantial residual tumor that has been deemed unresectable (95).
Juvenile idiopathic arthritis is believed to have a good prognostic outcome, with 40% to 60% of patients in one study being in remission at the time of follow-up (127). Indicators of poor prognostic outcome include early radiographic involvement, early hip involvement, and presence of rheumatoid factor. Chronic arthritis can affect bone and joint development, which can lead to leg-length equality and developmental problems with the hip (99). NSAIDs are used to reduce structural damage and biologics including antitumor necrosis factor agents are used to improve symptoms of early morning stiffness and function. Disease-modifying antirheumatic drugs such as methotrexate are used when NSAIDs alone do not relieve joint pain and swelling (171).
All contributors' financial relationships have been reviewed and mitigated to ensure that this and every other article is free from commercial bias.
Ava Yun Lin MD PhD
Dr. Lin of Michigan Medicine has no relevant financial relationships to disclose.
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Dr. Maria of Thomas Jefferson University has no relevant financial relationships to disclose.
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