A Case Report of Two Bahraini Siblings Presenting with Different Rare Neurogenetic Disorders: Congenital Insensitivity to Pain with Anhidrosis and Rigid Spine Muscular Dystrophy

Abstract

AbstractCongenital insensitivity to pain and anhidrosis (CIPA) is a rare autosomal recessive disease and can pose a diagnostic challenge, as the initial presentation of the disease is varied and can be attributed to different causes. Muscular dystrophies are genetically and clinically heterogeneous. We describe a 2-year-old Bahraini boy who was evaluated in the neonatal period for pyrexia of unknown origin, and then noticed to have recurrent respiratory and gastrointestinal infections during infancy and abnormal behavior (self-mutilation). Whole-exome sequencing identified homozygous pathogenic variant in the NTRK1 gene. His 4 years old sister was followed by the pediatric neurology team for unexplained fluctuating muscle weakness since the age of 2 years. A genetic etiology was suspected in her case, in view of positive family history with similar presentation and the whole-exome sequencing revealed homozygous likely pathogenic variant in the SELENON gene, consistent with a genetic diagnosis of autosomal recessive disorders associated with SELENON gene.