神经纤维瘤病属于常染色体显性遗传病,临床表现为神经纤维瘤、皮肤褐色色素沉着、智力低下、脊柱侧弯。本例合并骨髓增殖异常(MDS)及隐性脊柱裂在儿科少见。病历摘要男、13岁。出生时胸部以下至双股腹上段见褐色色素沉着,颜色逐年加深。3岁后腰部逐渐右后凸,腰髋两侧摸到多数结节。学习成绩差(数学尤差),六年间只读到小学三年级。近八年面色苍白,鼾衄十余次,皮肤出血点。无癫痫发作,父母非近亲婚配,家族 Neurofibromatosis is autosomal dominant genetic disease, clinical manifestations of neurofibromas, skin brown pigmentation, mental retardation, scoliosis. This case of combined myelodysplasia (MDS) and recessive spina bifida in pediatric rare. Medical summary Male, 13 years old. Born below the chest to the double-stranded belly see brown pigmentation, the color deepens year by year. 3-year-old waist gradually right kyphosis, waist and hip touched the majority of nodules on both sides. Poor academic performance (especially bad math), only six years to the third grade primary school. Nearly eight years looking pale, snoring more than ten times, skin bleeding point. No seizures, non-kinship marriage, family