A case report of Crisponi/cold-induced sweating syndrome 1 in a Saudi family

Abstract

Crisponi/cold-induced sweating syndrome 1 (CCIS1) is a rare autosomal recessive condition characterized by intermittent hyperthermia, camptodactyly, dysmorphic features, and paroxysmal muscular contraction in the face with crying or after minimal stimuli. Typical abnormal facial features include broad nose, anteverted nares, and long philtrum. Most of the affected individuals die in the first year of life. Here, we report two affected siblings from a consanguineous Saudi family who presented with phenotypic features of the early-onset CCIS1. The diagnosis was confirmed by identifying a novel homozygous pathogenic variant in the CRLF1 gene.