患儿,女,1岁,因手足口病后肢体扭转、发育倒退1个月就诊。患儿11个月时因发热5d,皮疹伴频繁抽搐2d在当地就诊,诊断"手足口病重型、病毒性脑炎、癫癎持续状态"。颅脑MRI显示双侧基底节,双侧丘脑、大脑脚、双侧皮层及海马对称性异常信号。给予免疫球蛋白、抗病毒以及抗惊厥药物等治疗2周,效果不佳。为查明病因,进行了遗传代谢病血尿筛查。尿有机酸分析示戊二酸及3-羟基戊二酸显著增高,血戊二酰肉碱正常、游离肉碱降低。提示戊二酸尿症1型。经低赖氨酸饮食、左卡尼汀、巴氯芬等治疗1个月后患儿症状明显改善。手足口病是儿科常见病毒感染性疾病,患有遗传代谢病、免疫缺陷等潜在疾病的患儿可能出现严重合并症。对于手足口病合并难以解释的脑病患儿,应考虑潜在的遗传代谢性疾病。
Abstract
A one-year-old girl visited the hospital due to limb torsion and developmental regression for one month after hand, foot and mouth disease. At the age of 11 months, she visited a local hospital due to fever for 5 days and skin rash with frequent convulsions for 2 days and was diagnosed with severe hand, foot and mouth disease, viral encephalitis, and status epilepticus. Brain MRI revealed symmetric abnormal signals in the bilateral basal ganglia, bilateral thalamus, cerebral peduncle, bilateral cortex, and hippocampus. She was given immunoglobulin, antiviral drugs, and anticonvulsant drugs for 2 weeks, and the effect was poor. Blood and urine screening for inherited metabolic diseases were performed to clarify the etiology. The analysis of urine organic acids showed significant increases in glutaric acid and 3-hydroxyglutaric acid, which suggested glutaric aciduria type 1, but her blood glutarylcarnitine was normal, and free carnitine significantly decreased. After the treatment with low-lysine diets, L-carnitine, and baclofen for 1 month, the patient showed a significant improvement in symptoms. Hand, foot and mouth disease is a common viral infectious disease in children, and children with underlying diseases such as inherited metabolic diseases and immunodeficiency may experience serious complications. For children with hand, foot and mouth disease and unexplained encephalopathy,inherited metabolic diseases should be considered.
关键词
戊二酸尿症1型 /
戊二酰肉碱 /
手足口病 /
急性脑病 /
发育倒退 /
儿童
Key words
Glutaric aciduria type 1 /
Glutarylcarnitine /
Hand, foot and mouth disease /
Acute encephalopathy /
Developmental regression /
Child
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基金
"十二五"国家科技支撑计划项目(2012BAI09B04);儿科遗传性疾病分子诊断与研究北京市重点实验室(Z141107004414036)。
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