A male patient was admitted with delay in motor development. He was born from healthy consanguneous parents after a normal pregnancy and birth as the third son of the family. There were no features in his family history. It was reported that the delay in motor development became obvious after he had an infection with high fever when he was 10 months old. He still could not sit or walk without help. There was a decrease in tonus, his deep tendon reflexes were hypoactive, he could not speak and could only follow objects with his eyes.Biochemical tests including total blood count, electrolyte levels, liver enzyme levels, kidney function tests, levels of muscle enzymes, blood glucose count, and lipid profile were normal. Metabolic tests including plasma ammonia levels, cantitative amino acid analysis, acylcarnitine profile with tandem mass spectometry, organic acid analysis in urine, and very long chain fatty acid levels were normal. Lactate levels were slightly elevated (35.5 ug/dL). The enzyme activities of arylsulfatase A and beta galactosidase were normal. The nerve conduction study and electroencephalogram results were normal.
展开▼
机译：一名男性患者因运动发育延迟而入院。他在正常怀孕后出生于健康的近亲父母，并作为家庭的第三个儿子出生。他的家族史没有任何特征。据报道，在他10个月大的时候，他发高烧感染后，运动发展的延迟变得很明显。在没有帮助的情况下，他仍然无法坐下或走路。 tonus减少，他的深部肌腱反射过度活跃，他无法讲话，只能跟随他的眼睛进行生化检查，包括总血细胞计数，电解质水平，肝酶水平，肾功能检查，肌肉酶水平，血糖和血脂正常。包括血浆氨水平，推测性氨基酸分析，酰基肉碱与串联质谱的分析，尿液中有机酸分析以及长链脂肪酸水平在内的代谢测试均正常。乳酸水平略有升高（35.5 ug / dL）。芳基硫酸酯酶A和β半乳糖苷酶的酶活性正常。神经传导研究和脑电图结果均正常。
展开▼
