Neonatal PURA syndrome: a case report and literature review

摘要

The study’s purpose is to investigate the clinical characteristics and research progress of PURA syndrome. It will also provide new ideas and methods for the diagnosis of neonatal hypotonia etiology. A case of PURA syndrome admitted to Shenzhen Hospital of Peking University was analyzed retrospectively. The keywords “PURA”, “PURα”, “PURA syndrome”, and “5q31” were used to search the Chinese periodical full-text database and Wanfang database. The keywords “PURA”, “PURα”, “Pur-alpha”, “PURA syndrome”, and “5q31” were used to search the biomedical literature database (PubMed). The Web of Science database and Proquest database were used to find works of literature from the establishment of the database to November 10, 2019. By analyzing the 72 cases of PURA syndrome reported in ten Chinese and international studies, it was found that 57% (21/37) of the patients had a gestational age greater than 41 weeks. Neonatal patients exhibited hypotonia (82%, 59/72), feeding difficulties (97%, 64/66), apnea or primary hypoventilation (57%, 41/72), intrauterine excessive hiccupping (55%, 6/11), and drowsiness (51%, 24/47). After the neonatal period, the pediatric patients demonstrated moderate to severe mental retardation (100%), epilepsy (54%, 29/54), progressive hip dysplasia (17%, 7/42), scoliosis (48%, 11/23), dysphagia and salivation (69%, 25/36), and constipation (60%, 21/35). The clinical manifestations of the present case were consistent with those in the literature reports. It was the first confirmed case at Shenzhen Hospital in the neonatal period and had a de novo mutation. It was difficult to diagnose PURA syndrome in the neonatal period, which might affect multiple systems. In newborns with obvious hypotonia, the evaluation should be expanded to consider other symptoms. Additionally, targeted gene detection should be completed to achieve early diagnosis and intervention, improve the prognosis, and perform genetic counseling.