By Dr. Syuan-Yu Hong, Department of Pediatric Neurology, China Medical University Children’s Hospital
Introduction
Paraneoplastic neurological syndromes (PNS) are rare but serious conditions in children, often presenting with a variety of neurological symptoms such as encephalopathy, ataxia, and movement disorders. These syndromes are triggered by an underlying malignancy, with neuroblastoma being one of the most common cancers in pediatric cases. While the symptoms may resemble more common neurological disorders, the underlying cause—cancer—requires targeted intervention. Paraneoplastic syndrome testing has proven to be a vital tool in diagnosing these elusive conditions, ensuring early detection and appropriate treatment.
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Case Presentation
Let me share with you the case of a 6-year-old boy, Liam, who came to our hospital plaints of difficulty walking, persistent vomiting, and a noticeable change in his behavior. His mother reported that these symptoms had appeared suddenly and worsened over the past few weeks. Initially, Liam had been an energetic and social child, but recently, he became lethargic, irritable, and increasingly unable to perform basic tasks such as holding a spoon or writing his name.
On physical examination, Liam showed signs of cerebellar ataxia, hyperreflexia, and abnormal eye movements. He was also unable to walk without support, and his speech was slow and slurred. These findings pointed toward a central nervous system involvement, but the cause was unclear.
Given the sudden onset of symptoms and the absence of a family history of neurological disorders, we decided to proceed with further testing, including paraneoplastic antibody screening. To my surprise, the test came back positive for anti-Hu antibodies, which are strongly associated with paraneoplastic syndromes and commonly linked to neuroblastoma. A full body scan, including an abdominal ultrasound, revealed a mass in his adrenal gland, confirming the diagnosis of neuroblastoma.
Remarkably, Liam’s case underscores how crucial it is to consider paraneoplastic neurological syndromes in children with unexplained neurological symptoms. Without the targeted testing, it is possible that his malignancy could have gone undetected until it was too late. Early detection enabled us to refer him for oncology treatment, and after several rounds of chemotherapy, his neurological symptoms improved significantly.
The Importance of Paraneoplastic Neurological Syndrome Testing
The case of Liam highlights the critical role that paraneoplastic neurological syndrome testing plays in pediatric neurology. Paraneoplastic neurological syndromes can be difficult to diagnose without the appropriate tests, as their symptoms often mimic other common conditions, such as viral infections or autoimmune diseases. However, as in Liam’s case, when the symptoms are unexplained and do not respond to conventional treatments, it is essential to consider paraneoplastic syndrome.
In pediatric patients, timely paraneoplastic testing can make a huge difference in the diagnosis and management of these complex cases. By identifying antibodies such as anti-Hu or anti-Yo, which are associated with neuroblastoma and other cancers, clinicians can promptly diagnose the underlying malignancy and initiate treatment, potentially saving the child’s life and improving long-term neurological outcomes.
“As a pediatric neurologist, I have seen many cases where paraneoplastic neurological syndromes were initially overlooked. It’s essential that we remain vigilant and consider all possibilities when treating children with unexplained neurological symptoms. Early detection is not just about treating the child’s neurological symptoms but also addressing the root cause, which is often a life-threatening malignancy. The earlier we diagnose, the better the chances for recovery. ” Dr. Syuan-Yu Hong said slowly
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Conclusion
The diagnosis of paraneoplastic neurological syndrome in children is often challenging but extremely important. Timely and targeted paraneoplastic testing can lead to early identification of underlying malignancies, allowing for early intervention and treatment. As pediatric neurologists, it is crucial that we stay proactive in considering these syndromes, even when symptoms seem to have no clear cause. By doing so, we ensure the best possible outcomes for our young patients.
洪宣羽 醫師
中國醫藥大學兒童醫院兒童神經科
