Endocrine Abstracts

Background: Acid Sphingomyelinase Deficiency (ASMD) is a rare lysosomal storage disease caused by mutations in the SMPD1 gene. Typically, the p.Arg610del homozygotes had normal linear growth.Case report: We reported the cases of 2 Tunisian brothers aged 23 and 13 years respectively, who have been admitted for splenomegaly and polyadenopathies. Physical examination showed pubertal and growth delay for both cases. Biological evaluation showed mode...