PURA syndrome: a case report
10.3760/cma.j.cn113903-20190630-00414
- VernacularTitle:PURA综合征一例
- Author:
Jingbo JIANG
1
;
Yangzi WU
Author Information
1. 深圳市儿童医院新生儿科 510083
- From:
Chinese Journal of Perinatal Medicine
2020;23(5):345-347
- CountryChina
- Language:Chinese
-
Abstract:
We hereby report a case of a full-term male neonate diagnosed with PURA syndrome with the symptoms of hypotonia, respiratory distress, feeding difficulty and lethargy. A heterozygous mutation of c.98dupG, p.(Gly34fs) in the PURA gene was detected using next-generation sequencing panel and the diagnosis of PURA syndrome was confirmed. This neonate was followed up for 6 months, and showed delayed mental development. PURA syndrome should be considered in neonates presenting with hypotonia, epilepsy, and delayed nervous system development, after excluding brain damage of premature, hypoxic-ischemic encephalopathy, and congenital metabolic defects. Genetic testing is needed to clarify the diagnosis.
