Novel GLRB Gene Mutation in a Saudi Baby with Hyperekplexia
Tamer Mohamed Rizk *
Pediatric Neurology Department, Al-Takhassusi Hospital, Al-Habib Medical Group, Riyadh, Saudi Arabia
Adel Ahmed Hassan Mahmoud
Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia
*Author to whom correspondence should be addressed.
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.
Keywords: Startle, hyperekplexia, glycine, receptor, stiff baby syndrome