Idiopathic CD4+ T-lymphocytopaenia with FLT1 mutation complicated by progressive multifocal leucoencephalopathy and EBV+ polymorphic lymphoproliferative disorder

We describe a unique case of idiopathic CD4+T cell lymphocytopaenia complicated by viral-associated disorders in a patient with a heterozygous mutation. A previously healthy woman presented with left-sided neurological deficits. Workup revealed a severe HIV-seronegative CD4+T cell deficiency and whi...

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Published inBMJ case reports Vol. 16; no. 8; p. e253105
Main Authors Rippel, Noa, Wong, Joshua, Hussein, Shafinaz, Kalac, Matko
Format Journal Article
LanguageEnglish
Published England BMJ Publishing Group LTD 29.08.2023
Subjects
Antigens
Biopsy
Brain research
Case reports
CD4-Positive T-Lymphocytes
Cells
Chemotherapy
Epstein-Barr virus
Female
Herpesvirus 4, Human
HIV
Human immunodeficiency virus
Humans
Iatrogenesis
Immune system
Leukoencephalopathy, Progressive Multifocal - diagnosis
Lymphatic diseases
Lymphocytes
Lymphoma
Lymphoproliferative Disorders - diagnosis
Lymphoproliferative Disorders - genetics
Medical prognosis
Mutation
Pathogenesis
Patients
Radiation therapy
Tomography
Transplants & implants
Vascular endothelial growth factor
Vascular Endothelial Growth Factor Receptor-1
Oncology
Chemotherapy
Infection (neurology)
Infectious diseases
Malignant and Benign haematology
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Summary:We describe a unique case of idiopathic CD4+T cell lymphocytopaenia complicated by viral-associated disorders in a patient with a heterozygous mutation. A previously healthy woman presented with left-sided neurological deficits. Workup revealed a severe HIV-seronegative CD4+T cell deficiency and white matter brain lesions; brain biopsy confirmed progressive multifocal leucoencephalopathy (PML). Six years later, she represented with a tender mandibular lesion, with pathology diagnostic for EBV+polymorphic post-transplant-like lymphoproliferative disorder. A heterozygous P1127L mutation was detected on peripheral blood and mandibular lesion next-generation sequencing. Concern for PML reactivation with rituximab-based therapy and the presence of localised disease led us to offer radiotherapy, resulting in significant symptom relief and marked therapeutic response on repeat imaging.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
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ISSN:1757-790X
1757-790X
DOI:10.1136/bcr-2022-253105