ABSTRACT

Aim: We aim to describe a case of hyperekplexia in a Saudi neonate due to Novel mutation in GLRB.

Case Presentation: One month old Saudi neonate with hypertonicity, repetitive episodes of jitteriness and exaggerated startle reflex.

Discussion: Hyperekplexia (OMIM:149400, 138492 & 604159) is considered a rare, autosomal dominant neurological disorder that presents early in life with hypertonicity,  exaggerated startle response and life threatening neonatal apnea. It has been caused by mutation in the alpha-1subunit (GLRA1) on chromosome 5q32, Beta subunit (GLRB) gene on chromosome 4q31 of the inhibitory glycine receptor and GLYT2 gene (SLC6A5) on chromosome 11p15 which encodes a presynaptic glycine transporter.

Conclusion: Raising awareness of the presence of this treatable disease may prevent unnecessary exposure to anti-epileptic medications, prevent life threatening apneas and improve long term outcome.