PURA syndrome is a rare neurodevelopmental disorder and a relatively new genetic syndrome characterized by neonatal hypotonia, hypothermia, hypersomnolence, feeding difficulties and breathing problems (apnea and primary hypoventilation). Following the neonatal period, individuals with PURA syndrome develop moderate-to-severe neurodevelopmental delay with absence of speech in most, lack of independent ambulation in many and moderate-to-severe intellectual disability. Other manifestations include epilepsy in about 50% of the patients as well as abnormal non-epileptic movements (e.g., dystonia, dyskinesia, and dysconjugate eye movements). Congenital heart defects, urogenital malformations, skeletal and endocrine abnormalities occur, but are less common. Alterations in the purine-rich binding element protein alpha (PURA) gene in chromosome 5q31.2-q31.3 have been reported to cause PURA syndrome. The genetic defect in PURA consists of either a heterozygous pathogenic PURA sequence variant (occurs in 90% of PURA diagnosed individuals) or a deletion of 5q31.3 which may include all or part of PURA gene (occurs in 10% of PURA diagnosed individuals). Research has shown PURA gene to play an important role in brain development – as evident in the severe neurodevelopmental delay hallmarks of the syndrome. Management of PURA syndrome consists of multidisciplinary team care. Herein, we describe a neonate with severe hypotonia, stridor, difficulty weaning off of high flow oxygen and episodes of bradycardia and de-saturation diagnosed with Pura syndrome secondary to novel heterozygous multi-gene deletion at 5q31.2q31.3 with rapid Whole Exome Sequencing.

Mahesh Chikkannaiah
Dayton Children's Hospital/ Wright State University
United States

Laura Fonseca
Dayton Children's Hospital
United States

Irma Reyes
Dayton Children's Hospital/ Wright State University
United States

Samuel Dzodzomenyo
Dayton Children's Hospital/ Wright State University
United States

Gogi Kumar
Dayton Children's Hospital/ Wright State University
United States