鸟氨酸转氨酶缺乏症
鸟氨酸转氨酶
高氨血症
癫痫持续状态
医学
脑病
儿科
内科学
介绍(产科)
内分泌学
癫痫
胃肠病学
尿素循环
病理
外科
遗传学
生物
精氨酸
精神科
氨基酸
作者
Eoghan Donlon,Jamie McGettigan,Christine Gaffney,Marzuki Wan Ahmad,Peter Boers,Eileen P. Treacy,Elijah Chaila
出处
期刊:Practical Neurology
[BMJ]
日期:2022-01-19
卷期号:: practneurol-003196
被引量:1
标识
DOI:10.1136/practneurol-2021-003196
摘要
A previously healthy 27-year-old man was brought to hospital after been found late at night confused, agitated and talking incoherently. He represented 12 days later with focal seizures, progressing to anarthria and encephalopathy. MR scan of brain showed diffuse cerebral oedema and his plasma ammonia was >2000 µmol/L (12–55 µmol/L). He developed refractory status epilepticus and subsequently died. Genetic analysis identified an ornithine transcarbamylase (OTC) gene mutation on the X chromosome. We discuss this atypical presentation of OTC deficiency as a rare but treatable cause of hyperammonaemic encephalopathy.
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