A Novel Skeletal Issue in Neurodevelopmental Disorders: A Case Report of a 4-Year-Old Boy with a GRIN2B Mutation and Sacroiliitis

Abstract

Glutamate ionotropic receptor N-methyl-D-as-partate type subunit 2B ( GRIN2B ) gene encodes GluN2B, a subunit of the N-methyl-D-aspartate (NMDA) receptor, which is closely associated with human brain development [1]. GRIN2B -re-lated neurodevelopmental disorder presents as developmental delay or intellectual disability with other neurologic phenotypes, such as abnormal muscle tone, epilepsy, and autism spectrum disorder [2]. Early-onset findings include microcepha-ly, cortical malformation, and severe epileptic en-cephalopathy [3]. Pediatric use various diagnostic to identify nervous system abnormalities in children with developmental delay. example,