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17 doctors, no answers: ChatGPT helps mother find correct diagnosis for 4-year-old child

Understanding Tethered Cord Syndrome: A Case of Missed Diagnosis


Tethered cord syndrome (TCS) is a neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column. This condition can lead to a range of symptoms, including back pain, leg pain, weakness, and incontinence. Early diagnosis and treatment are crucial to prevent permanent damage. Unfortunately, TCS can be challenging to diagnose, and cases of missed diagnosis, such as your child’s, highlight the importance of awareness and understanding of this condition among healthcare professionals.

What is Tethered Cord Syndrome?

Tethered cord syndrome occurs when the spinal cord is attached to the surrounding tissues of the spine, causing abnormal stretching as the individual grows. This stretching can damage the spinal cord and nerve roots, leading to a variety of symptoms that may progressively worsen over time. TCS can be congenital (present at birth) or acquired due to spinal injuries, surgeries, or tumors.

Symptoms of Tethered Cord Syndrome

The symptoms of TCS can vary widely and may include:

  • Back Pain: Chronic pain, often worsening with activity.
  • Leg Weakness: Weakness, numbness, or tingling in the legs.
  • Foot Abnormalities: Changes in foot posture or structure.
  • Incontinence: Problems with bladder and bowel control.
  • Orthopedic Issues: Scoliosis or other spinal deformities.

Challenges in Diagnosis

Diagnosing TCS can be challenging due to the variability of symptoms and their overlap with other conditions. Additionally, symptoms may develop slowly, making it difficult to pinpoint the onset of the disorder. Imaging studies, such as MRI, are crucial for diagnosis, but a high index of suspicion is required, especially when symptoms are subtle.

Case Study: Missed Diagnosis

Your child’s case, where 17 doctors missed the diagnosis of TCS, underscores the difficulties in identifying this condition. This situation is not uncommon, and several factors can contribute to a missed diagnosis:

  • Lack of Awareness: Not all healthcare providers are familiar with TCS and its manifestations.
  • Symptom Overlap: Symptoms of TCS can mimic other conditions, leading to misdiagnosis.
  • Insufficient Imaging: Inadequate or misinterpreted imaging studies can miss the telltale signs of TCS.

Importance of Second Opinions and Specialist Care

Given the complexity of TCS, seeking second opinions and consulting with specialists, such as pediatric neurologists or neurosurgeons, is crucial. These professionals have more experience and training in identifying and treating spinal cord disorders.

Treatment Options

Once diagnosed, the treatment for TCS typically involves surgery to release the tethered spinal cord. Early intervention can prevent further neurological deterioration and improve symptoms. Postoperative care and physical therapy are also essential components of recovery.


Tethered cord syndrome is a serious but treatable condition. Raising awareness among healthcare providers and advocating for thorough evaluations and specialist consultations can help ensure timely diagnosis and treatment. If you suspect TCS or are facing similar challenges, seeking out experienced medical professionals is key to managing the condition effectively.
The young boy, named Alex, and his mother, Courtney, had suffered a three-year-long medical mystery that involved severe pain and surprising symptoms. Courtney described the ordeal, stating, “I have to give him Motrin (a pain-relieving drug) every day, or he has these gigantic meltdowns. If he had Motrin, he was totally fine.”

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