Gordon Holmes syndrome – first time diagnosed in Croatia

We present a 38-year-old woman with clinical presentation of ataxia, cognitive impairment, and secondary amenorrhea remarkable brain hyperintensities on magnetic resonance imaging (MRI). Clinical symptoms began at the age 20 years development amenorrhea, instability, dysfunction. Although this set medical primary/secondary due to hypogonadotropic hypogonadism, impairment are known as Gordon Holmes syndrome, such has not been described in Croatia so far. Because this, patient was unsuccessfully diagnostically investigated in various neurological institutions different neurodegenerative diseases, primarily based MRI. started analyze large group possible genetically triggered autosomal-recessive degenerative ataxias, noticed compatibility symptoms: cerebellar along MRI changes characterized significant subcortical white matter, thalamic, steam confluent patchy areas hyperintensity atrophy, that constitute syndrome caused by ATM RNF216 gene mutation, (GHS). Genetic analysis Variantyx laboratory USA performing whole-exome sequencing showed compound heterozygous for RNF 216 which confirmed diagnosis GHS, first time diagnosed Croatia.