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 moderate anemia associated with dyslipidemia (decreased HDL and elevated TRG). Lysosphingomyelin and Lysophingomyelin-509 were both increased. Molecular testing of SMPD1 gene revealed a p.Arg610del mutation confirming ASMD for both cases. GH deficiency was highly suspected and Growth Hormone stimulating tests were enrolled for both patients. GH response was acceptable for both.
Conclusion: We reported the first case of ASMD with p.Arg610del genotype that was associated with severe phenotype constitutional delay of growth. Nevertheless, GH deficiency should be investigated.
18 - 21 May 2019
European Society of Endocrinology