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
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

227-229

Références

Debnath D, Valerio D. Atraumatic rupture of the spleen in adults. J R Coll Surg Edinb. 2002;47:437–445.
Torres S, Balboa E, Zanlungo S, et al. Lysosomal and mitochondrial liaisons in Niemann-Pick disease. Front Physiol. 2017;8:982.
Niemann A. Ein unbekanntes krankheitsbild. Jahrb Für Kinderheilkd. 1914;79:1–10.
Pick L. Der Morbus Gaucher und die ihm ähnlichen Krankheiten (die lipoidzellige Splenohepatomegalie Typus Niemann und die diabetische Lipoidzellenhypoplasie der Milz). Ergeb Inn Med Kinderheilkd. 1926;29:519–627.
McGovern MM, Avetisyan R, Sanson BJ, et al. Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD). Orphanet J Rare Dis. 2017;12:41.
Schuchman EH, Wasserstein MP. Types a and B Niemann-Pick disease. Best Pract Res Clin Endocrinol Metab. 2015;29:237–247.
Sobrido MJ, Bauer P, de Koning T, et al. Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?Orphanet J Rare Dis. 2019;14:20.
Schuchman EH, Desnick RJ. Types a and B Niemann-Pick disease. Mol Genet Metab. 2017;120:27–33.
Xu J, Qin Z. A case of spontaneous splenic rupture of adult Niemann-Pick disease [in Chinese]. Chin J Postgrad Med. 1991;45.
Chen Z, Chen Z, Wu S, et al. Niemann-Pick disease resulting in spontaneous splenic rupture in an adult: report of a case. Surg Today. 2008;38(5):473–475.
Yao K, Lu B, Lu B, et al. A case of Niemann-Pick disease [in Chinese]. J Qiannan Med Coll Nationalities. 2017;30:47–48.

Auteurs

Shuquan Zhao (S)

From the Department of Forensic Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People's Republic of China.

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Classifications MeSH