PURA syndrome: a case report / 中华围产医学杂志

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.