Gordon Holmes syndrome - A rare case of ataxia, hypogonadism, and cerebral white matter changes with expanding phenotype and review of cerebellar ataxia with hypogonadism

Abstract

Abstract Cerebellar ataxia encompasses an increasing list of genetic disorders, and identifying associated features in addition to ataxia will help narrow down the diagnosis. We present a case of a 33-year-old male experiencing choreiform movements and cerebellar ataxia and found to have primary infertility. Investigations revealed hypogonadotropic hypogonadism, and magnetic resonance imaging showed cerebellar atrophy and cerebral white matter changes, which helped diagnose Gordon Holmes syndrome (GHS), confirmed by whole exome sequencing. This case highlights the potential association of sensorineural hearing loss (SNHL) as an additional phenotype in GHS. Although the causal relationship between SNHL and GHS is not fully proven, the findings offer insights into the emerging phenotypic spectrum of GHS.