Case report: EBV-related eye orbits and sinuses lymphohistiocytic infiltration responsive to rituximab in a patient with X lymphoproliferative syndrome type 1.
Front Immunol
; 15: 1370991, 2024.
Article
en En
| MEDLINE
| ID: mdl-38633254
ABSTRACT
Background and aims:
X lymphoproliferative syndrome type 1 (XLP1) is a rare inborn error of immunity due to mutations of SH2D1A, encoding for slam-associated protein (SAP). The clinical phenotype includes severe mononucleosis, hemophagocytic lymphohistiocytosis (HLH), and B-cell lymphomas.Methods:
We report the case of a child affected with XLP1 who presented with an incomplete HLH, triggered by Epstein-Barr virus (EBV) and treated with rituximab, involving orbits and paranasal sinuses.Results:
The lesion was indistinguishable from lymphoma, complicating diagnosis and treatment. In addition, considering the high incidence of lymphoma in patients with XLP1, histology helped define its nature, driving therapeutic choices.Conclusion:
We described an unusual presentation of incomplete HLH in a patient affected with XLP1 an EBV-driven infiltration of the orbits and paranasal sinuses. This led us to a challenging differential diagnosis of lymphoma-associated hemophagocytic syndrome, which can be frequently observed in patients with XLP1. Considering the extremely poor prognosis of this clinical finding, we sought for a prompt diagnosis and managed to obtain it and to immediately establish the right treatment on the basis of the pathological finding.Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Infecciones por Virus de Epstein-Barr
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Linfohistiocitosis Hemofagocítica
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Síndromes de Inmunodeficiencia
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Linfoma
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Trastornos Linfoproliferativos
Límite:
Child
/
Humans
Idioma:
En
Revista:
Front Immunol
Año:
2024
Tipo del documento:
Article
País de afiliación:
Italia