ArticleMediterranean journal of hematology and infectious diseases2017
A nine-month-old-boy with Atypical Hemophagocytic Lymphohistiocytosis.
Article in Mediterranean journal of hematology and infectious diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
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Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.
- The Use of Human Mesenchymal Stem Cells as Therapeutic Agents for theFrontiers in immunology · 2018Pooled it
- Lysinuric protein intolerance with novel mutations in solute carrier family 7A member 7 in a Chinese family.Pediatric investigation · 2024Article
- Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature.Frontiers in pediatrics · 2021Article
- Case Report: Hemophagocytic Lymphocytosis in a Patient With Glutaric Aciduria Type IIC.Frontiers in immunology · 2021Article
- Overview of symptoms and treatment for lysinuric protein intolerance.Journal of human genetics · 2019Review
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammation caused by uncontrolled proliferation of activated lymphocytes and histiocytes. Often, HLH is an acquired syndrome. We report a case of a nine month-old-boy presented with hepatosplenomegaly, severe anemia, thrombocytopenia, hypertriglyceridemia and high hyperferritinemia. These clinical features of HLH prompted a wide range of infectious and auto-immune tests to be performed. After an extensive diagnostic workup, he was referred to the immune-hematologic unit for HLH suspicion with an unknown cause. Primary HLH due to familial lymphohistiocytosis (FLH) was first evoked in front of consanguinity, probable HLH in the family, early onset, and in the absence of a causative pathology like infection or cancer. However, functional tests were normal. Atypical features like the: absence of fever, hypotonia, recurrent diarrhea since diversification, hematuria, and proteinuria suggested an inborn metabolism error with gastrointestinal involvement. Specific tests were performed to reach a final diagnosis.
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