Division of Genetics, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, USA.
Mol Genet Metab. 2012 Aug;106(4):488-90. doi: 10.1016/j.ymgme.2012.05.018. Epub 2012 May 30.
An 8-½ year old boy with glutaric aciduria type I (GA1) and chronic dystonia presented with severe rhabdomyolysis in association with a febrile illness. His clinical course was complicated by acute renal failure, cardiac arrest and hypoxic ischemic encephalopathy. As acute neurological decompensation is typically not seen in patients with GA1 beyond early childhood, this case report serves as an important reminder that patients with GA1 and status dystonicus may be at risk for acute life-threatening rhabdomyolysis, renal failure and further neurological injury at any age.
一名 8 岁半的男孩患有戊二酸血症 I 型（GA1）和慢性肌张力障碍，因发热性疾病出现严重横纹肌溶解症。他的临床病程复杂，伴有急性肾衰竭、心脏骤停和缺氧缺血性脑病。由于在儿童期后，GA1 患者通常不会出现急性神经功能恶化，因此该病例报告提醒我们，任何年龄的 GA1 伴张力障碍状态的患者都可能面临横纹肌溶解症、肾衰竭和进一步神经损伤的急性生命威胁风险。
