NEDRIHF综合征或PURA综合征：中枢性肌张力减退的罕见病因。
NEDRIHF syndrome or PURA syndrome : A rare cause of central hypotonia.
作者信息
Richa Swati, Dwivedi Aradhana, Shaw Subhash Chandra, Singh Daljit
机构信息
Resident (Pediatrics), Army Hospital (Research & Referral), New Delhi, India.
Associate Professor (Pediatrics), Army Hospital (Research & Referral), New Delhi, India.
出版信息
Med J Armed Forces India. 2024 Dec;80(Suppl 1):S325-S328. doi: 10.1016/j.mjafi.2023.08.009. Epub 2023 Oct 3.
Abstract
Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF) is a very rarely reported disease. The disease is due to microdeletions in the PURA gene on chromosome 5q31. It is one of the rare causes of central hypotonia in neonates causing parental concern and anxiety. We report one such rarely diagnosed case of NEDRIHF-PURA (purine-richelement-binding protein A) syndrome.
摘要
伴有新生儿呼吸功能不全、肌张力减退和喂养困难的神经发育障碍（NEDRIHF）是一种报道极少的疾病。该疾病是由5号染色体q31区域PURA基因的微缺失所致。它是导致新生儿中枢性肌张力减退的罕见原因之一，引起家长的担忧和焦虑。我们报告了一例罕见的NEDRIHF-PURA（富含嘌呤元素结合蛋白A）综合征确诊病例。
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