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Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental SDH despite newborn screening
Journal of Inherited Metabolic Disease ( IF 4.2 ) Pub Date : 2021-09-13 , DOI: 10.1002/jimd.12436
Nikolas Boy 1 , Alexander Mohr 2 , Sven F Garbade 1 , Peter Freisinger 3 , Jana Heringer-Seifert 1 , Angelika Seitz 2 , Stefan Kölker 1 , Inga Harting 2
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Subdural hematoma (SDH) was initially reported in 20% to 30% of patients with glutaric aciduria type 1 (GA1). A recent retrospective study found SDH in 4% of patients, but not in patients identified by newborn screening (NBS). 168 MRIs of 69 patients with GA1 (age at MRI 9 days – 73.8 years, median 3.2 years) were systematically reviewed for presence of SDH, additional MR and clinical findings in order to investigate the frequency of SDH and potential risk factors.

中文翻译:

戊二酸尿症 1 型硬膜下血肿:尽管进行新生儿筛查,但高排泄者易发生偶发 SDH

最初报道 20% 至 30% 的 1 型戊二酸尿症 (GA1) 患者出现硬膜下血肿 (SDH)。最近的一项回顾性研究发现,4% 的患者存在 SDH,但在通过新生儿筛查 (NBS) 确定的患者中则没有。对 69 名 GA1 患者(MRI 年龄 9 天 - 73.8 岁,中位数 3.2 岁)的 168 次 MRI 进行了系统审查,以了解 SDH 的存在、其他 MR 和临床发现,以调查 SDH 的频率和潜在的危险因素。
更新日期:2021-11-09
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