Work

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

Year: 2024

Type: article

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. • Unexplained splenomegaly should be an indication for ASMD and/or Gaucher Disease. • Enzyme activity and biomarker detection should be included in the diagnostic workup. • New highly effective therapy for the first time reported in children with ASMD. • Timely initiation of therapy can reverse and prevent almost all complications.

Source: Molecular Genetics and Metabolism Reports

DOI: 10.1016/j.ymgmr.2024.101144

Authors: Amber Van Baelen, Stijn Verhulst, François Eyskens

Institutions: University of Antwerp, Antwerp University Hospital

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,410