ArticleJournal of neuropathology and experimental neurology2018
Histopathologic Correlates of Familial Hemophagocytic Lymphohistiocytosis Isolated to the Central Nervous System.
Article in Journal of neuropathology and experimental neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis.Journal of clinical immunology · 2020Pooled it
- Autopsy Case of a Disseminated Cytomegalovirus Infection with a Cutaneous Ulcer Mimicking Rheumatoid Vasculitis.Internal medicine (Tokyo, Japan) · 2026Article
- Identifying Therapeutic Targets for Bronchial Asthma: Systematic Druggable Genome-Wide Mendelian Randomization.Health science reports · 2026Article
- Prognostic scoring model incorporating clinical characteristics for pediatric hemophagocytic lymphohistiocytosis: a multicenter retrospective study.Annals of hematology · 2025Article
- Isolated Central Nervous System FHL3 in an Asian Pediatric Patient: A Case Report and Literature Review.Journal of inflammation research · 2025Article
- Case Report: Pediatric CNS-isolated hemophagocytic lymphohistiocytosis secondary to uniparental disomy ofFrontiers in genetics · 2025Article
- A case of acute severe cryptogenic organic pneumonia with secondary hemophilia.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2023Article
- Article
- An Elusive Seizure.The Neurohospitalist · 2022Article
- Hemophagocytic Lymphohistiocytosis Secondary to Disseminated Histoplasmosis in HIV Seronegative Patients: A Case Report and Review of the Literature.Frontiers in cellular and infection microbiology · 2022Review
- Cytomorphologic Features Found in Cerebrospinal Fluid Specimens of Hemophagocytic Lymphohistiocytosis Patients.American journal of clinical pathology · 2021Article
- Familial Hemophagocytic Lymphohistiocytosis Secondary toCase reports in hematology · 2021Article
- Cell Versus Cytokine - Directed Therapies for Hemophagocytic Lymphohistiocytosis (HLH) in Inborn Errors of Immunity.Frontiers in immunology · 2020Review
- Recent advances in primary immunodeficiency: from molecular diagnosis to treatment.F1000Research · 2020Review
- Pediatric CNS-isolated hemophagocytic lymphohistiocytosis.Neurology(R) neuroimmunology & neuroinflammation · 2019Article
- Central nervous system-restricted familial hemophagocytic lymphohistiocytosis responds to hematopoietic cell transplantation.Blood advances · 2019Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
Familial hemophagocytic lymphohistiocytosis (HLH) is an immune hyperactivation syndrome caused by mutations in genes associated with cytotoxic T-cell and NK-cell function. While neurological manifestations frequently accompany systemic inflammation at initial presentation, isolated central nervous system (CNS) involvement is rare, and the histological correlates are not well described. We present 3 patients (ages 5, 6, and 7 years) with CNS-isolated familial HLH, who presented with a variety of neurological symptoms and underwent brain biopsies for multifocal enhancing supratentorial and infratentorial lesions. Biopsy slides from all 3 patients revealed similar findings: perivascular lymphocytes, predominantly CD3+ T-cells (CD4>CD8) with occasional intramural infiltration of small vessels; scattered histiocytes without hemophagocytosis; parenchymal and leptomeningeal inflammation varying from mild and focal to severe and sheet-like with associated destructive lesions. There was no evidence of demyelination, neoplasia, or infection. Genetic testing identified compound heterozygous mutations in PRF1 (Patients 1 and 2) and UNC13D (Patient 3), with no evidence of systemic disease except decreased NK-cell function. All 3 patients were treated with hematopoietic stem cell transplantation with marked improvement of symptoms. These findings combined with the poor outcomes associated with delayed diagnosis and lack of aggressive treatment highlight the need to consider HLH in the differential diagnosis of inflammatory brain lesions.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.