Case Summary
This case involves a teenage patient with a neurocutaneous syndrome. The patient’s primary care physician (PCP) and neurology followed her from infancy for the neurocutaneous syndrome. As a young child, the physician told the patient that she no longer needed to follow up with neurology.
As an early teen, the patient’s PCP referred her for an MRI of the head. The scan identified an arteriovenous malformation (AVM) at the C2 level but could not measure the extent of the lesion.
Almost two months later, the neurologist ordered a follow-up scan of the spine, which demonstrated the scope of the AVM starting at C2 and continuing down through the cervical spine. However, the thoracic spine could not be fully visualized.
The neurologist did not inform either the patient or the parent of the findings. Sometime later, the patient developed a sudden onset of lower extremity weakness. She went to the emergency room and waited several hours before being seen. After evaluation, physicians took the patient for emergency surgery. During surgery, the surgeon found that the AVM had ruptured. Furthermore, the size of the AVM was large, extending to at least T2. As a result, the patient suffered from permanent quadriplegia.
Case Theory
The most common complications of an AVM are rupture and seizures. If left untreated, the bleeding can cause significant neurological damage and be fatal. This patient’s history of the neurocutaneous syndrome and the inability to identify the size or extent of the lesion should have immediately alerted the physician to the potential for complications. In this case, the failure to inform the patient and provide a STAT referral to neurosurgery for a potentially life-threatening condition led to permanent quadriplegia.
Spinal arteriovenous malformation (AVM) is an abnormal bundle of blood vessels surrounding or within the spinal cord. With spinal AVM, blood passes directly from the arteries to the veins, bypassing the capillaries. This altered blood flow can result in a lack of oxygenated blood supply to the surrounding cells. The cells are then deprived of the oxygen they need. As a result, the cells in the spinal tissue can weaken or die. The tangled arteries and veins in a spinal AVM can also burst and cause bleeding in the spinal cord (hemorrhage). The AVM can grow and develop over time as blood flow increases and puts pressure on the spinal cord. This leads to rupture and life-threatening complications.
The treatment in the case of spinal cord AVM is evaluation and emergent surgery, particularly in an active young patient and the possibility of poor outcome. Without treatment, this rare condition can permanently damage the spinal cord. In this case, a progressive spinal AVM was left untreated and ruptured, causing permanent spinal cord damage and paralysis.
Expert Witness Q&A
- What is the standard of care for a pediatric cervical spinal AVM?
- What are the possible complications of a delay in treatment?
- What is the standard of care when informing a patient/guardian of abnormal imaging findings?
Expert Witness Involvement
Pediatric Neurosurgery Expert
A neurosurgical expert with pediatric experience is best suited to opine on this case. This expert can speak to the standard of care in diagnosing and treating cervical spinal AVM.
Primary Care Provider
An expert in primary care can speak to the standard of care for informing the patient of the findings and providing a STAT referral to neurosurgery for further evaluation.
About the author
Erin O'Brien
Erin O'Brien is a senior medico-legal writer and editor, with 25 years of experience authoring healthcare deliverables. Previously, Erin authored an award-winning column in the health and wellness sector, guest hosted a wellness radio show, and received an FMA Charlie Award for Excellence in Writing.
Erin has reviewed and completed case studies for thousands of medical malpractice cases, both plaintiff and defense nationwide, and was presented the US Chamber of Commerce Best Small Business Blue Ribbon designation. Erin is an experienced Medical Risk Consultant and device start-up project manager. She has consulted for numerous successful healthcare and bio-tech start-ups. After completing a Bachelor of Science degree at the University Of Wisconsin, Erin pursued an educational background in Healthcare Risk Management at the University of South Florida. Erin crafts her work with attention to detail, readability, healthcare marketing regulations, and medical standard of care.
