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患儿,女性,5岁。因患麻疹后食欲差伴恶心呕吐、两下肢无力1月余。在当地医院检查发现“心脏早搏”,疑“心肌炎”,治疗无好转而转入本院。患儿3岁以后常诉两下肢疼痛,乏力。否认有家族遗传病史。入院体检:体格瘦小,精神差,贫血貌,全身皮肤有糠皮样脱屑及棕色色素斑、巩膜皮肤无黄染,口唇干,心率100次/min,心音强,律齐,心尖区闻及Ⅱ级收缩期杂音,两肺听诊正常。腹软,肝肋下末及,剑下3cm,质中,脾未扪及。四肢关节无红肿,两下肢肌力Ⅲ级,膝反射迟钝。实验室检查:血红细胞3.21×10~(12)/L,血红蛋白88g/L,网织红细胞10.2％。血GPT377U/L、GOT525U/L(两者均高于正常值),乙肝三系阴性。血尿素氮16.5mmol/L,肌酐
Children, women, 5 years old. Poor appetite after suffering from measles with nausea and vomiting, both lower limb weakness more than 1 month. In the local hospital examination found that “premature heart”, suspected “myocarditis”, the treatment was no improvement and transferred to the hospital. After the age of 3 children often complain of lower extremity pain, fatigue. Denied having a family history of genetic disease. Admission physical examination: physical thin, poor spirit, anemia appearance, systemic skin desquamation and brown pigmentation spots, scleral skin without yellow dye, dry lips, heart rate 100 beats / min, strong heart sound, law Qi, apex area smell and Ⅱ systolic murmur, two lung auscultation normal. Abdomen soft, under the ribs and liver, sword 3cm, quality, the spleen is not palpable. Joints and limbs without swelling, two lower extremity muscle strength Ⅲ, knee reflex slow. Laboratory tests: red blood cells 3.21 × 10 ~ (12) / L, hemoglobin 88g / L, reticulocytes 10.2%. Blood GPT377U / L, GOT525U / L (both higher than normal), hepatitis B triad negative. Blood urea nitrogen 16.5mmol / L, creatinine