Unexplained splenomegaly as a diagnostic marker for a rare but severe disease with an innovative and highly effective new treatment option: A case report

Amber Van Baelen; Stijn Verhulst; François Eyskens

doi:10.1016/j.ymgmr.2024.101144

Unexplained splenomegaly as a diagnostic marker for a rare but severe disease with an innovative and highly effective new treatment option: A case report

Mol Genet Metab Rep. 2024 Sep 28:41:101144. doi: 10.1016/j.ymgmr.2024.101144. eCollection 2024 Dec.

Authors

Amber Van Baelen^{1

2

3}, Stijn Verhulst^{2

3}, François Eyskens^{1

3}

Affiliations

¹ Center of Inherited Metabolic Diseases, Antwerp University Hospital, Drie Eikenstraat, 655 2650 Edegem, Belgium.
² Laboratory of Experimental Medicine and Pediatrics, University of Antwerp, Universiteitsplein 1, 2610 Antwerpen Campus Drie Eiken Building T, Belgium.
³ Pediatric Department, Antwerp University Hospital, Drie Eikenstaat, 655 2650 Edegem, Belgium.

Abstract

Acid Sphingomyelinase Deficiency (ASMD) is a lysosomal storage disorder that can lead to severe complications if not promptly treated. This case aims to highlight the critical importance of early awareness of ASMD and to introduce, for the first time in the literature, a new and highly effective treatment option for children.

Keywords: Acid sphingomyelinase deficiency; Biomarkers; Gaucher disease; Lysosomal storage disorders; Niemann Pick Type B; Niemann pick Type A/B; Olipudase alfa; Therapy.

Publication types

Case Reports