Clinical Analysis Of 13 Patients With Neurofibromatosis And The Review Of Literatures

Background and objective: Neurofibromatosis, also called Multiple Neurofibroma, is an autosomal dominant inherited disease with multi-system injured because of nervous crest cells disdifferentiation. It is a congenital disease which can involve nerve, muscle, bone, internal organs and skin. Despite the increasing recognition of the disease in recent years, aggregate analysis of it with clinical, imaging, diagnosis and treatment is few. This study was designed to discuss the clinical manifestation, image, treatment and prognosis of it.Methods: We collected clinical data of 13 patients with Neurofibromatosis, include presenting complaint, previous history, therapeutic history and family history. All the patients were treated in the First Affiliated Hospital, Zhejiang University School of Medicine from September 2005 to February 2008. We discuss the clinical manifestation,image,treatment and prognosis of Neurofibromatosis through retrospective analysis of this data and review of related literatures.Result: All of 13 patients were neurofibromatosis type I ( NF I ) patients, with 3 patients' family member had the same disease. These patients were aged from birth to 45 years, and the mean age was 15.7 years. In these 13 patients, 8 patients were males and others were females. Who was the first time to visit were 3 patients, and one more time or relapse were 10 patients. 2 patients had only one lump ( with Cafe au lait spots), others had more than two lumps. In 13 patients, type of peripheral was 6, type of splanchna was 1, type of centrum were 1, type of fruste was 2, type of peripheral and centrum was 2, type of peripheral and splanchna was 1.With the measure of X-ray, CT and MRI, the diameter of lumps was 0.5 cm to 35 cm, and the mean diameter was 4.61 cm. All patients were treated with operation, and the diagnosis was confirmed by Pathology. Only 1 patient was treated with radioactive-ray after operation , and others were not treated with radioactive-ray or chemotherapy. Follow up from the first operation to March 2008, 9 patients were recurrence and operated again, with 4 patients were not recurrence. Besides 1 patient was examination and worse after operation, others were all recovery.Conclusions: NF was an autosomal dominant inherited disease, and age of onset is young. The clinical manifestation was multiplicity. It can involve skin, muscle, nerve, internal organs and so on, with the risk of aggravate. This disease was easy to relapse after operation. Because operation-only couldn't get the purpose of cure to the disease, combined therapy with chemotherapy, radiotherapy, laser therapy and gene therapy can get better effect.