Our Summary

Neurocutaneous syndromes are a group of diseases that involve both the skin and the nervous system. One of these syndromes is neurofibromatosis (NF), a genetic disorder that results in tumors growing on nerves, skin changes, and bone deformities. The most common form of this syndrome is type I.

In this paper, the researchers examine a case of a 6-year-old Iranian boy diagnosed with neurofibromatosis. The boy was brought to a pediatric cardiology clinic due to a soft heart murmur that was found during a routine checkup. An ultrasound of the heart revealed a large mass located in the back portion of the pericardium (the sac that surrounds the heart). This mass was exerting pressure on the left chambers of the heart, causing mild leakage of the mitral valve and a small amount of fluid around the heart.

MRI scans confirmed the ultrasound findings and also revealed that the mass was surrounding the left circumflex artery, which supplies blood to the heart. A biopsy of the mass indicated it was a type of tumor known as a neurofibroma.

The doctors decided not to remove the mass due to the risk of injuring the coronary artery and because the patient’s condition was stable.

The researchers note that it is uncommon for neurofibroma to affect internal organs and even rarer for it to involve the heart. This case highlights that despite being benign (non-cancerous), neurofibromas can sometimes affect important structures like the coronary arteries.

FAQs

  1. What is neurofibromatosis and how does it affect the body?
  2. How common is it for neurofibromatosis to involve the heart?
  3. Why was the decision made not to resect the tumor in the case of the 6-year-old Iranian boy?

Doctor’s Tip

A helpful tip that a doctor might tell a patient about tumor resection is to follow post-operative care instructions carefully, including taking prescribed medications, attending follow-up appointments, and avoiding strenuous activities that could put strain on the surgical site. It’s also important to report any unusual symptoms or complications to your healthcare provider promptly.

Suitable For

Patients with tumors that are causing symptoms such as pain, pressure on surrounding structures, or functional impairment are typically recommended for tumor resection. In the case of the 6-year-old Iranian boy with neurofibromatosis, the large intrapericardial tumor was causing compressive effects on the left-side chambers of the heart, leading to mild mitral regurgitation and pericardial effusion. In such cases, surgical resection may be necessary to relieve symptoms and prevent further complications. However, in some cases where the risk of surgical intervention is high or the tumor is stable and not causing significant symptoms, watchful waiting may be recommended. Each patient’s case should be evaluated individually to determine the best course of action for tumor resection.

Timeline

  • Patient is diagnosed with neurofibromatosis, a neurocutaneous syndrome with tumors that grow on nerves, skin changes, and bone deformities
  • Patient is referred to the pediatric cardiology clinic for evaluation of a soft holosystolic murmur discovered on routine examination
  • Echocardiogram reveals a large intrapericardial, encapsulated echodense homogenous mass located in the posterior part of the pericardium, attached to the posterior aspect of the left atrium and left ventricle
  • MRI confirms the findings, showing encasement of the left circumflex artery
  • Open biopsy through a midsternotomy procedure reveals a mildly cellular mesenchymal tumor composed of spindle cells suggestive of neurofibroma
  • Further resection of the mass is not performed due to the risk of coronary injury and the stable situation of the patient
  • Patient continues to be monitored for any changes in the tumor and its effects on the heart.

What to Ask Your Doctor

  1. What is the purpose of tumor resection in my case?

  2. What are the potential risks and complications of tumor resection surgery?

  3. What is the expected outcome of the tumor resection surgery?

  4. How long is the recovery period after tumor resection surgery?

  5. Will I need any follow-up treatments or monitoring after the tumor resection surgery?

  6. Are there any alternative treatment options to tumor resection that I should consider?

  7. How will tumor resection surgery affect my overall health and quality of life?

  8. Are there any restrictions or lifestyle changes I need to make after tumor resection surgery?

  9. How experienced is the surgical team in performing tumor resection surgeries?

  10. Are there any support groups or resources available for patients undergoing tumor resection surgery?

Reference

Authors: Moghadam EA, Navabi Shirazi MA, Mirzaaghayan MR, Nikoufar M, Ghamari A. Journal: Arch Pediatr. 2018 Jan;25(1):39-41. doi: 10.1016/j.arcped.2017.11.009. Epub 2017 Dec 21. PMID: 29274929