Brain MRI Findings of Hemophagocytic Lymphohistiocytosis With a Heterozygous PRF1 Gene Mutation Masquerading As CLIPPERS: A Case Report.
chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids
gene mutation
hemophagocytic lymphohistiocytosis
neuroimaging
prf1
Journal
Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737
Informations de publication
Date de publication:
Mar 2023
Mar 2023
Historique:
accepted:
28
03
2023
medline:
1
4
2023
entrez:
31
3
2023
pubmed:
1
4
2023
Statut:
epublish
Résumé
Familial hemophagocytic lymphohistiocytosis is a rare and potentially life-threatening genetic condition characterized by unsuppressed immune activation and hypercytokinemia. Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids (CLIPPERS) is a central nervous system inflammatory disorder characterized by punctate and curvilinear gadolinium-enhancing lesions in the brainstem, cerebellum, and spinal cord, which responds well to corticosteroid treatment. Hemophagocytic lymphohistiocytosis has been known to mimic CLIPPERS on neuroimaging, and patients previously diagnosed with CLIPPERS may carry familial hemophagocytic lymphohistiocytosis-related gene mutations that serve as predisposing factors. In this article, we describe a case initially diagnosed with CLIPPERS based on characteristic magnetic resonance imaging features and clinical course, who was later diagnosed with hemophagocytic lymphohistiocytosis based on a heterozygous familial hemophagocytic lymphohistiocytosis-associated
Identifiants
pubmed: 36998916
doi: 10.7759/cureus.36787
pmc: PMC10043984
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e36787Informations de copyright
Copyright © 2023, Tachibana et al.
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
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