Niemann-Pick Disease Type B in Traumatic Splenic Rupture.
Journal
The American journal of forensic medicine and pathology
ISSN: 1533-404X
Titre abrégé: Am J Forensic Med Pathol
Pays: United States
ID NLM: 8108948
Informations de publication
Date de publication:
Sep 2020
Sep 2020
Historique:
pubmed:
17
6
2020
medline:
27
1
2021
entrez:
17
6
2020
Statut:
ppublish
Résumé
The rupture of spleen is common in clinical and forensic practice. Trauma is the most common cause of splenic rupture. Although rare, traumatic splenic rupture may occur in these individuals with asymptomatic underlying disease, and clinical and forensic pathologists may neglect the disease and diagnose only the traumatic splenic rupture. Here, we present a case of postinjury splenic rupture resulting in splenectomy, where the patient was diagnosed with Niemann-Pick disease type B through histopathological examination and genetic testing. In forensic practice, in cases of isolation splenic rupture, full microscopy should be done to differentiate traumatic rupture from a spontaneous bleed due to an underlying disease process.
Identifiants
pubmed: 32541392
doi: 10.1097/PAF.0000000000000577
pii: 00000433-202009000-00017
doi:
Substances chimiques
SMPD1 protein, human
EC 3.1.4.12
Sphingomyelin Phosphodiesterase
EC 3.1.4.12
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
227-229Références
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