期刊
JOURNAL OF PEDIATRIC GENETICS
卷 10, 期 1, 页码 77-80出版社
GEORG THIEME VERLAG KG
DOI: 10.1055/s-0040-1709670
关键词
partial OTC deficiency; proton MR spectroscopy; multimodal neuroimaging
类别
资金
- NICHD NIH HHS [U54 HD061221] Funding Source: Medline
A 3-year-old male patient with viral illness presented with altered mental status, emesis, and abdominal pain, leading to a quick diagnosis of ornithine transcarbamylase deficiency (OTCD) using proton magnetic resonance spectroscopy (1H MRS). Treatment with sodium phenylbutyrate and sodium benzoate initiated promptly, resulting in discharge after 3 days with no neurologic deficits. 1H MRS is a valuable tool for rapid diagnosis and treatment initiation in cases of OTCD in acute settings.
We report the case of a 3-year-old male patient who presented with a 3-day history of altered mental status, emesis, and abdominal pain in the setting of a viral illness. A rapid screening revealed a high ammonia level and after reviewing his proton magnetic resonance spectroscopy (1H MRS) which showed the classic triad of high glutamate, low choline, and myoinositol, a diagnosis of ornithine transcarbamylase deficiency (OTCD) was made within 6hours of presentation. Therapy with sodium phenylbutyrate and sodium benzoate was initiated and patient was discharged after 3 days with no neurologic disability. Biochemical and molecular testing eventually confirmed the diagnosis. 1H MRS is a practical and fast neuroimaging modality that can aid in diagnosis of OTCD and enables faster initiation of treatment in acute settings.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据