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尼曼-匹克(Niemann-Pick)氏病,是一种少见的类脂质代谢障碍疾病。现报告二例如下: 例1 男性,10个月。因发热一周,腹泻三天而入院。患儿系第二胎足月顺产,混合喂养。6个月会坐,目前已能扶着站立。二个月前患儿头颅后枕部骨髓炎,经抗菌素治疗好转。体检:T39.6℃,发育营养一般,面色略苍白,反应尚可。巩膜无黄染。全身皮肤无皮疹、瘀点及色素沉着。浅表淋巴结不肿大。头颅无畸形,前囟平坦。咽部充血,心肺听诊正常。腹部略膨隆,无移动性浊音,肝肋下10cm,脾肋下3cm,质均中等硬度、表面光滑、边缘较钝。四肢张力正常。辅助检查:眼底检查正常,未见樱桃红样
Niemann-Pick disease is a rare disorder of lipid metabolism. Two cases are as follows: 1 male, 10 months. Due to fever a week, diarrhea and admission for three days. Children with full-term second-term fetus, mixed feeding. 6 months will sit, has been able to help stand. Two months ago, head and occipital osteomyelitis in children with headache, improved by antibiotic treatment. Physical examination: T39.6 ℃, general nutrition, slightly pale complex, the reaction is acceptable. Sclera without yellow dye. No skin rash, petechia and pigmentation. Superficial lymph nodes are not enlarged. Head without deformity, anterior bland flat. Pharyngeal hyperemia, cardiopulmonary auscultation normal. Abdominal slightly bulging, no shifting dullness, hepatic ribs 10cm, 3cm under the spleen ribs, the quality of medium hardness, smooth surface, blunt edge. Tension normal limbs. Auxiliary examination: fundus examination is normal, no cherry red sample