Congenital disorders of glycosylation in children – Histopathological and ultrastructural changes in the liver

BackgroundCongenital disorders of glycosylation (CDG) result from defects in the synthesis glycans and their attachment to proteins lipids. Histologically, liver steatosis, fibrosis cirrhosis have been reported CDG.The aim study was characterize histopathological ultrastructural changes CDG patients hospitalized our Institute, find most characteristic features, as articles concerning microscopic features are sparse.MethodsOut 32 diagnosed followed-up biopsy performed 4 them, including 2 with MPI-CDG, 1 SRD5A3-CDG, PGM1-CDG, a part diagnostic process. In one patient, post mortem PMM2-CDG, comprised autopsy samples.ResultsThe common finding presence steatosis (4/5) varying severity, mixed macro- microvesicular type well foamy degeneration hepatocytes. two patients, associated fibrosis, stage (cirrhosis) according Batts Ludwig classification, respectively. besides mild inflammatory infiltrates composed lymphoid cells portal tracts were observed. No correlation between patient's age observed.ConclusionsThe miscellaneous; thus, based on examination only, we can not identify (even suspect) exact CDG. The histopathologic cohort (of various severity) Congenital sparse. Out samples.