Introduction
What do the following diseases have in common?
Childhood brain tumors: incidence ranging from 1.15 – 5.14 cases per 100,000 children
Infant botulism: an average of 110 cases of botulism are reported annually in all of the US
Anomalous left coronary artery from the pulmonary artery (ALCAPA): 1 case per 300,000 live births
At first glance, the initial thought that comes to mind is that these are all rare diagnoses. However, as a physician, a common denominator of these diagnoses is the concern about missing them. It is not because we don’t understand the pathology or know the symptoms of these diseases. It is because we see so many benign illnesses that present with similar symptoms.
Common Symptoms that Can Mask Rare Pediatric Diseases
These are but a few of the severe diseases that can present with relatively common complaints. Brain tumors can present with headaches from a growing mass within the brain. Infant botulism will often present with poor feeding or tiring during feeding because of the slow progression of weakness/paralysis that the botulinum toxin induces. ALCAPA can present with coughing and increased work of breathing because of the heart failure that it causes by abnormal coronary anatomy stealing blood from the heart muscle instead of supplying blood to the heart muscle (which causes symptoms akin to an infant heart attack). These are not uncommon complaints in children without these specific diseases.
The Challenge of Differentiating between Benign and Severe Diseases
While it is not easy to miss these diagnoses once they’ve progressed to a more advanced stage, it may be difficult to differentiate them from their more common counterparts at the early stages of their development. We can’t count on one hand the numerous children we see in a clinic day with a headache. There are also many infants who present with poor feeding. And, especially during the winter months with viral respiratory illnesses, every infant that comes into the clinic has a cough with slightly increased work of breathing. Sifting through what is a severe, life-threatening disease versus what is a benign malady that will resolve on its own can be tricky when a physician repeatedly sees many patients with general, non-specific symptoms.
The Importance of Clinical Suspicion and Vigilance
The concern about missing a rare diagnosis is a common preoccupation for physicians, especially in primary care environments. As one sees the same patterns of symptoms many times a day and multiplied by many more times a week (or year) associated with the relatively uninteresting string of uneventful diagnoses, the brain becomes conditioned to seeing uneventful diagnoses. The mind gets lulled into only seeing the common, benign illness patterns because the incidence of rare, life-threatening diagnoses may be 1 in 100,000 children or even more rare.
Many primary care pediatricians may only see a few cases of rare diseases in their training at specialized children’s hospitals and much less frequently when they go into practice in the community. So, while physicians are trained to identify a wide spectrum of diseases and illnesses from the very rare to the most common, the nagging voice in the back of our minds speaks to our paranoia and fear of missing the most serious and rare diseases. Recognizing rare pediatric diseases is often like finding a needle in a haystack of common ailments and a healthy dose of vigilance with a high level of clinical suspicion is often required to identify the subtle signs that can make all the difference in a child’s life.
How can parents and caregivers advocate for their children to ensure that rare diseases are not overlooked or misdiagnosed?
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