Focal hepatic lesions in acid sphingomyelinase deficiency: Differential diagnosis between foamy macrophages aggregates and malignancy

Annalisa Sechi; Alessandro Vit; Claudio Avellini; Andrea Dardis; Andrea Pellegrin; Maurizio Scarpa; Bruno Bembi

doi:10.1016/j.ymgmr.2021.100808

Focal hepatic lesions in acid sphingomyelinase deficiency: Differential diagnosis between foamy macrophages aggregates and malignancy

Mol Genet Metab Rep. 2021 Oct 5:29:100808. doi: 10.1016/j.ymgmr.2021.100808. eCollection 2021 Dec.

Authors

Annalisa Sechi¹, Alessandro Vit², Claudio Avellini³, Andrea Dardis¹, Andrea Pellegrin², Maurizio Scarpa¹, Bruno Bembi¹

Affiliations

¹ Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy.
² Division of Vascular and Interventional Radiology, University Hospital of Udine, Udine, Italy.
³ Institute of Pathological Anatomy, University Hospital of Udine, Udine, Italy.

Abstract

Acid sphingomyelinase deficiency (ASMD) is a rare metabolic disorder due to biallelic mutation in the SMPD1 gene. The defect leads to the accumulation of sphingomyelin within the cells of the reticulo-endothelial system, particularly in the spleen, liver, lungs, and bone marrow causing hepato-splenomegaly, lung disease and hematological abnormalities. At present, data on abdominal imaging in ASMD are limited. Here we describe the characteristics of focal liver lesions observed in a 30 years old female. During the Magnetic Resonance follow up an increase in number and size of the lesions, showing T1 hypointensity and T2 hyperintensity with contrast enhancement, was observed. Contrast enhanced ultrasound evidenced rapid wash-in and steady isoecogenicity without appreciable wash-out at 80 seconds. The main lesion was biopsied to rule out the presence of a hepatocellular carcinoma, and showed to be a benign foamy macrophages aggregate. In this report, we discuss the possible pathogenesis of focal hepatic lesions in ASMD and their differential diagnosis.

Keywords: ASMD; Foamy macrophages aggregates; Focal hepatic lesions; Niemann Pick type B.

Publication types

Case Reports