Abstract：
METHODS: A 14-year-old Chinese boy presented with a 7-year history of exertional dyspnea and reduced exercise tolerance. His perinatal and family histories were unremarkable. He was short and underweight for his age since childhood but had normal intellectual development. At 3 years of age, he was admitted to the ICU for severe pneumonia and anemia, and he received blood transfusion. He developed exertional dyspnea and reduced exercise tolerance at 7 years of age and became reluctant to run or jump, with poor appetite, abdominal distension, and refusal of protein-rich foods. At 13 years of age, he experienced a coma during school military training, and he was hospitalized for hyperammonemia (blood ammonia levels between 98 and 148 μmol/L; normal range, 18-72 μmol/L). Brain MRI showed no abnormalities. He improved after symptomatic treatment and was discharged, without taking any oral medication afterwards. However, his dyspnea and exercise tolerance worsened gradually. This patient was referred to Children\'s Hospital affiliated with Zhengzhou University for further investigation and management.
摘要：
方法：一个14岁的中国男孩，有7年劳力性呼吸困难和运动耐量下降的病史。他的围产期和家族史并不引人注目。他从小就身材矮小，体重不足，但智力发育正常。3岁时,他因严重肺炎和贫血而被送进ICU,他接受了输血.他在7岁时出现劳力性呼吸困难和运动耐量下降，因此不愿跑步或跳跃，食欲不振,腹胀,拒绝富含蛋白质的食物。13岁时,他在学校军训期间经历了昏迷，并且他因高氨血症而住院（血氨水平在98至148μmol/L之间；正常范围，18-72μmol/L)。头颅MRI未见异常。经对症治疗后好转出院,之后不服用任何口服药物。然而,他的呼吸困难和运动耐量逐渐恶化。该患者被转诊至郑州大学附属儿童医院进行进一步调查和管理。
