Focal hepatic lesions in acid sphingomyelinase deficiency: Differential diagnosis between foamy macrophages aggregates and malignancy.
ASMD
Foamy macrophages aggregates
Focal hepatic lesions
Niemann Pick type B
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Dec 2021
Dec 2021
Historique:
received:
19
05
2021
revised:
29
09
2021
accepted:
29
09
2021
entrez:
18
10
2021
pubmed:
19
10
2021
medline:
19
10
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 34660203
doi: 10.1016/j.ymgmr.2021.100808
pii: S2214-4269(21)00103-8
pmc: PMC8502771
doi:
Types de publication
Case Reports
Langues
eng
Pagination
100808Informations de copyright
© 2021 Published by Elsevier Inc.
Déclaration de conflit d'intérêts
None
Références
Mol Genet Metab. 2020 Sep - Oct;131(1-2):245-252
pubmed: 32620536
Am J Hematol. 1997 May;55(1):28-34
pubmed: 9136914
Haematologica. 2001 Aug;86(8):896
pubmed: 11524264
Orphanet J Rare Dis. 2017 Feb 23;12(1):41
pubmed: 28228103
Hepatogastroenterology. 1993 Jun;40(3):240-3
pubmed: 8325590
Liver Cancer. 2014 May;3(2):85-96
pubmed: 24944999
Hepatology. 2009 Sep;50(3):985-6
pubmed: 19714719
Blood Cells Mol Dis. 2016 Sep;60:49-57
pubmed: 27519945
Hum Mutat. 2021 May;42(5):614-625
pubmed: 33675270
PLoS One. 2013 May 28;8(5):e65620
pubmed: 23724146
J Ultrasound. 2009 Sep;12(3):85-92
pubmed: 23396497
Blood. 2016 Aug 4;128(5):738
pubmed: 28092897
Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):145-57
pubmed: 25987169
Genet Med. 2013 Aug;15(8):618-23
pubmed: 23412609
JIMD Rep. 2017;32:101-104
pubmed: 27334896
Mol Genet Metab. 2016 Jul;118(3):206-213
pubmed: 27198631
Genet Med. 2021 Aug;23(8):1543-1550
pubmed: 33875845
Pathobiology. 2016;83(1):13-23
pubmed: 26588331
Hematol J. 2002;3(1):17-20
pubmed: 11960391
Radiology. 2006 Jan;238(1):339-45
pubmed: 16304086
Pediatrics. 2004 Dec;114(6):e672-7
pubmed: 15545621
Adv Exp Med Biol. 2010;688:185-205
pubmed: 20919655
Mol Genet Metab. 2012 Nov;107(3):526-33
pubmed: 22818240
Am J Hematol. 2017 Sep;92(9):929-939
pubmed: 28569047
Clin Imaging. 2017 Jul - Aug;44:79-91
pubmed: 28486156
J Inherit Metab Dis. 2018 Sep;41(5):829-838
pubmed: 29305734
AJR Am J Roentgenol. 2010 Jan;194(1):W12-9
pubmed: 20028884
Pediatrics. 2008 Aug;122(2):e341-9
pubmed: 18625664
Blood Cells Mol Dis. 2018 Feb;68:100-105
pubmed: 27839983
Rev Med Interne. 2015 Sep;36(9):619-22
pubmed: 25479761