Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report

Abstract Background Mutations in lysyl-tRNA synthetase ( KARS1 ), an enzyme that charges tRNA with the amino acid lysine both cytoplasm and mitochondria, have been associated thus far autosomal recessive Charcot–Marie–Tooth type CMTRIB, hearing loss DFNB89, mitochondrial encephalohepatopathy (MEH) featuring neurodevelopmental disorders microcephaly, white matter changes, cardiac hepatic failure less than 30 patients. Case presentation We report clinical, biochemical molecular findings of a 14-month-old girl severe MEH compatible clinical features, profound sensorineural loss, leopard spot retinopathy, pancytopenia, advanced liver disease portal hypertension leading to death at age months. Conclusions Whole exome sequencing identified two rare variants gene. Our expands allelic features synthase disorders. Moreover, our we confirm usefulness WES as first tier diagnostic method infants complex multisystem phenotypes.