1例神经纤维瘤伴颈部血肿形成病例报道

A case report of neurofibromatosis with neck hematoma formation

神经纤维瘤病是一种临床较少见的常染色体显性遗传疾病,可分NFI型及NF2型,其中NF1型较为常见,约占90%,神经纤维瘤病临床表现复杂多样,早期诊断困难,患者就诊时常常已有全身多处散在小结节、咖啡牛奶斑、骨质病变等症状,预后差。尤其NF1型患者常伴有肿瘤浸润血管生长,致血管畸形、破裂形成自发性血肿,使得临床上不易察觉、诊断此类肿瘤疾病,延误疾病诊治,严重时可造成患者死亡。本文报道1例因颈部血管出血形成颈部血肿就诊,并通过病理诊断确诊为神经纤维瘤病的案例,旨在提高、加深临床医师对于神经纤维瘤病的认识。

Neurofibromatosis is a clinically rare autosomal dominant genetic disease,it can be divided into NFI and NF2 types,of which NF1 is more common,accounting for about 90%.The neurofibromatosis has complex and diverse clinical manifestations,early diagnosis of which is difficult,patients often have multiple nodules scattered throughout the body,coffee milk spots,bone lesions and other symptoms,with poor prognosis.In particular,NF1 patients are often accompanied by tumor infiltration and vascular growth,resulting in vascular malformationandrupture due to spontaneous hematoma,which makes it difficult to detect and diagnose this kind of tumor disease in clinic,delay the diagnosis and treatment of the disease,and even cause death when it is serious.This paper reports a case of cervical hematoma due to neck vascular bleeding,and a diagnosis of neurofibromatosis through pathological diagnosis,in order to improve and deepen the clinician's understanding of neurofibromatosis.