Ieva Nokalna, Latvia

Rīga Stradiņš University Paediatrics

Presenter of 1 Presentation

Poster Display Malignancy and PID

CASE REPORT: X-LINKED LYMPHOPROLIFERATIVE DISEASE.

Lecture Time
11:07 - 11:08
Room
Poster Area
Date
20.09.2019, Friday
Session Time
10:00 - 17:00
Board Number
70
Presentation Topic
Malignancy and PID

Abstract

Background and Aims

X-linked lymphoproliferative (XLP) disease is a primary immunodeficiency caused by mutations in the signalling lymphocyte activation molecule - associated protein gene (SH2D1A). This causes dysregulation of the immune system, with defects in both cellular and humoral immunity. Patients usually present with Epstein-Barr virus (EBV) infection. Most affected individuals have no apparent disease prior to presentation. Common clinical manifestations are fulminant infectious mononucleosis, dysgammaglobulinemia, lymphoma.

Our aim was to report a clinical case of a patient with X-linked lymphoproliferative disease, who manifested with Burkitt lymphoma and hypogammaglobulinemia.

Methods

Case is reported of a 7-year-old boy with complaints of right sided submandibular lymphadenopathy. Lymph node biopsy, bone marrow aspiration, trephin biopsy were performed, no data of lymphoproliferative disease was found. In 2 month time lymph node conglomerate in the neck area increased in size, MRI of the head and neck was performed and large mass with extra- and intracranial distribution was found. Biopsy was performed and Burkitt lymphoma -specific morphology and immunophenotype was found. Chemotherapy was started, during which patient had several episodes of sepsis, he was EBV DNA positive. Boy reached complete remission, but developed persistent hypogammaglobulinemia. Primary immunodeficiency was suspected. Mutation was detected in SH2D1A gene and diagnosis XLP was confirmed. Boy now recieves intravenous immune globulin regulalry and condition is stable.

Results

This case report demonstrates a patient with XLP, who manifested with Burkitt lymphoma and persistent hypogammaglobulinemia.

Conclusions

Management of XLP consists of treatment of disease manifestations, prevention of further sequelae and hematopoietic cell transplantation, which is the only curative therapy.

Hide