Clinical characteristics and genetic analysis of HPDL biallelic gene related neurodevelopmental disorders with progressive spasm and cerebral white matter abnormalities

Objective To summarize the clinical phenotype and genetic characteristics of biallelic variation in HPDL leading to neurodevelopmental disorders with progressive spasticity and cerebral white matter abnormalities Methods The clinical and genetic data of 3 cases with neurodevelopmentla ldisorders confirmedinthe Department of Neurology of the Affiliated Children's Hospital of Zhengzhou University from February 2018 to June2022 wereanalyzed.Thesecond-generation sequencing method was used to sequence the HPDL gene and the first-generation Sanger sequencing was used to verify the family members,and the characteristics of gene variants were summarized,and 3 cases were treated and followed up.Results Among the 3 children with neurodevelopmental disorders,2 were females and 1 male,and the age of onset was 25 days to 11 years of birth.In the clinical phenotypes,cases 1 and 2 were children with Leigh-like syndrome with infancy onset,with recurrentseizures,intelligent backwardness,language and motor delay,lactic acid increase,acidosis.