神经纤维瘤病(Neurofibomatosis)一般认为是一种常染色体显性遗传性疾病,多发生于青少年,发生在婴儿者则较少见。我们在2909例尸检中发现1例,现报告如下。临床病历摘要:男婴,足月顺产,全身皮下有大小不等的结节约40余个。经活体组织检查,病理诊断:先天性全身性纤维瘤病。出生后第3天开始拒奶,精神差。予以能量合剂,抗生素等治疗。于生后第4天终因呼吸、循环衰竭而死亡。父母染色体无异常。 Neurofibomatosis is generally considered to be an autosomal dominant genetic disease, mostly in adolescents, but less common in infants. We found in 1 2909 autopsy, the report is as follows. Summary of clinical records: baby boy, full-term delivery, the body subcutaneous nodules of varying sizes about 40. The living tissue examination, pathological diagnosis: congenital systemic fibromatosis. 3 days after birth began to refuse milk, poor spirit. To energy mixture, antibiotics and other treatment. On the fourth day after birth, she died of respiratory failure and circulatory failure. Parents of chromosomes without exception.