Discussion
This study highlights a high prevalence of musculoskeletal misdiagnoses
among Danish children who were diagnosed with spinal tumors. In
two-thirds of children with spinal tumors, musculoskeletal misdiagnoses
were identified, resulting in a longer diagnostic interval compared to
children without musculoskeletal misdiagnoses. This subgroup of patients
frequently exhibited less aggressive tumors, rarely developed metastases
or required additional therapy beyond surgery and tended to have a
higher 5-year survival. These findings suggest that less aggressive
tumors can gradually manifest as skeletal abnormalities and
musculoskeletal symptoms without concurrent neurological or general
symptoms, thereby leading to misdiagnosis.
Physicians who evaluate children with musculoskeletal pain must always
consider the potential presence of an underlying tumor. Although it is
widely acknowledged that pediatric cancers are frequently misdiagnosed,
with rates ranging from 52-60%, musculoskeletal misdiagnoses have
previously mainly been studied in children with hematological cancers.
Patients who were misdiagnosed with musculoskeletal conditions often
presented with localized pain in the lower limb, back, or neck,
accompanied by gait abnormalities and nocturnal pain. The literature
states pain as the most prevalent symptom of spinal tumors, followed by
motor weakness, sciatica, and sensory deficits. It is imperative to
approach any occurrence of new-onset, persistent, localized, and severe
pain in a previously asymptomatic child with utmost seriousness,
warranting thorough consideration of an underlying pathological
condition.
Despite medical advances, the diagnostic intervals are still very long
for spinal tumors. Multiple studies have revealed a median diagnostic
interval ranging from 2-8 months. In the presence of a misdiagnosis the
diagnostic interval for pediatric cancers is twice as long. To the best
of our knowledge, the present study is the first to investigate the
impact of a musculoskeletal misdiagnosis on the time intervals of
pediatric spinal tumors. Our results indicate that patients with a
musculoskeletal misdiagnosis have a significantly longer median total
interval of 5.5 months compared to 3 months for patients without a
misdiagnosis, primarily due to a longer parental and primary care
interval. In addition, the subgroup with a specific rheumatic
misdiagnosis had an even longer first hospital doctor interval, often
due to a delay after a visit to the emergency room. The median duration
was four months for this subgroup compared to one week for the children
without a musculoskeletal misdiagnosis (p=0.01).
Multiple studies have previously revealed associations that extend the
diagnostic interval (age, symptoms, and tumor grade, among others).
Koshimizu et al., conducted a study evaluating factors contributing to a
delay in the diagnosis of pediatric spinal tumors. They discovered
neurological symptoms as the presenting symptom was associated with
early diagnosis, and the symptom of pain in the lower limb or back was
associated with a longer duration of symptoms until diagnosis. They
recommended that children experiencing pain lasting more than one month
should undergo an MRI to exclude serious spinal disorders.
The present study found no association between longer time intervals and
decreased survival. Patients with a musculoskeletal misdiagnosis had the
highest 5-year survival rate. This is in accordance with most
literature. Bouffet et al., found that patients with a shorter symptom
duration (<2 months) had a poorer outcome than those with
longer symptom duration (>2 months).
Previous investigations of pediatric CNS tumors have identified tumor
type and grade as key factors influencing survival, rather than the
diagnostic interval. Crawford et al., found that patients with
high-grade malignant spinal tumors had a shorter duration of symptoms
and significantly poorer survival compared to patients with low-grade
tumors. In the present study, patients with a musculoskeletal
misdiagnosis frequently had less aggressive tumors, rarely developed
metastases or required additional therapy beyond surgery. Furthermore,
these patients demonstrated a tendency towards higher 5-year survival
rates. This may indicate that less aggressive tumors can provoke slowly
developing skeletal abnormalities and musculoskeletal symptoms without
neurological or general symptoms, causing misdiagnoses and diagnostic
delays.
Survivors of spinal tumors experience a considerable disease burden due
to long-term complications from both the tumor and it’s treatment, which
markedly reduce their quality of life. In this study, sequelae were
highly prevalent in all patients, occurring in two-thirds of the cases,
consistent with literature, underscoring the significant impact spinal
tumors implicate on patients. Notably, the patients with a
musculoskeletal misdiagnosis did not demonstrate a higher prevalence or
severity of sequelae compared to those without a misdiagnosis. This is
consistent with some studies, while others have suggested that delayed
diagnosis leads to decreased long-term quality of life.
The strengths of this study include the population-based setting
including a non-selected cohort of all pediatric spinal tumor cases
diagnosed in Denmark over a long period of 23 years. The study’s broad
representation of tumor morphologies reflects the general population.
The comprehensive data collection enabled a detailed analysis of the
clinical course of pediatric spinal tumors, providing valuable insights
into potential areas for improving the diagnostic process. Further, the
evaluation of the diagnostic intervals was strengthened by using a
standardized model with several subintervals, which increases the
generalizability of the results.
This study has some limitations that require cautious interpretation.
Firstly, pediatric spinal tumors are rare, leading to few cases and
small subgroups, which may limit the statistical precision. Secondly,
retrospective evaluation of the clinical presentation based on doctors’
notes from medical charts may introduce recall bias, particularly for
time intervals and symptoms. Thirdly, a potential methodological
limitation is the fact that the data does not include primary care and
presumably underestimates the number of preliminary musculoskeletal
misdiagnoses. Fourthly, the study did not record where in the health
system misdiagnoses occurred, which precludes a definitive determination
of a correlation between misdiagnosis and diagnostic delay. Lastly, 12
out of 70 (17%) patients were excluded due to insufficient or missing
medical charts, which could affect our findings.