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尼满-匹克氏病属常染色体隐性遗传的代谢性疾病,临床上较为少见,我院收治1倒,现报导如下: 病历摘要患儿,男,10个月,因进行性腹部增大,消瘦,苍黄4个月,于1983年3月11日入院。4个月前,家长偶然发现患儿腹部膨胀,并可触及1包块,此后日见增大,身体渐消瘦,面色苍黄,睡眠多汗,食欲正常。体格及智力、发育均落后,入院时不能坐立。父母系近亲结婚,患儿为第5胎,其余四胎均健在,否认有家族史。体检:体重5kg,身长67cm,发育,营养差,神志清楚,智力低下。胸部可见散在性瘀点及樱红色丘疹,咽部充血,眼底黄斑部可见暗红色斑点。心、肺正常、腹部高度膨隆,紧张,皮下脂肪菲薄,肝在肋下4cm,剑突下5cm,脾下缘入盆腔,内缘在腹部正中线以内1cm,在脐下2cm处可触及清晰的脾切迹,肝、脾均中等硬度,表面光滑无结节。腹部可见脐疝。头颅,胸部X线摄片无异常发现。化验:RBC300
Nichiren - Pick’s disease is an autosomal recessive metabolic disease, clinically rare, admitted to our hospital down 1, are reported as follows: Children with medical records summary, male, 10 months, due to progressive abdominal enlargement, Thin, pale yellow 4 months, March 11, 1983 admitted to hospital. 4 months ago, parents accidentally found the abdomen inflated and palpable mass 1, since then increased, the body gradually thin, pale yellow, sleep sweating, normal appetite. Physical and mental, development are behind, can not sit on admission. The cousins got married, with the fifth child and the remaining four children alive, denying family history. Physical examination: weight 5kg, length 67cm, development, poor nutrition, consciousness, mental retardation. Visible chest scattered red and pemphigus papules, throat congestion, macular dark red spots visible spots. Heart, lungs normal, abdomen bulging, nervous, subcutaneous fat meager, the liver in the ribs 4cm, xiphoid 5cm, splenic lower edge into the pelvis, the inner edge of the midline of the abdomen within 1cm, 2cm below the umbilical can reach a clear Splenic notch, liver, spleen are medium hardness, smooth surface without nodules. Abdominal visible umbilical hernia. Head, chest X-ray no abnormal findings. Laboratory: RBC300