Genetic and clinical characteristics of primary hemophagocytic lymphohistiocytosis in children

Zhao, Chenzi; Zhang, Qing; Zhang, Rui; Lian, Hongyun; Ma, Honghao; Zhao, Xiaoxi; Li, Zhigang

doi:10.1007/s00277-023-05499-6

Cited by 1 publication

(2 citation statements)

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“…Viral infections, especially EB virus, are the most common infection in patients with HLH ( 15 ). A retrospective study ( 16 ) has highlighted that primary HLH patients with central nervous system involvement tend to have a worse prognosis. The 3-year overall survival of patients with central nervous system involvement is significantly lower than that of patients without central nervous system involvement.…”

Section: Literature Searchmentioning

confidence: 99%

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Allogeneic hematopoietic stem cell transplant for familial hemophagocytic lymphohistiocytosis: a case report and literature review

Bingjie,

Linlin,

Futian

et al. 2024

Front. Immunol.

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ObjectivesThis study aims to discuss the clinical manifestations and treatment of Familial hemophagocytic lymphohistiocytosis (FHL) caused by a mutation in the UNC13D gene.MethodsA 6-year-old female child presented with unexplained febricity, splenomegaly, pancytopenia, hemophagocytic lymphohistiocytosis in bone marrow, decreased NK cell activity, soluble CD25 levels > 44000ng/ml. Genetic sequencing revealed a mutation in the UNC13D gene. Additionally, the patient experienced intermittent fever with seizures characterized by involuntary twitching of the left upper limb. Head magnetic resonance imaging (MRI) showed white matter lesions.ResultsAccording to the HLH-2004 diagnostic criteria revised by the International Society of Histiocytosis the patient was diagnosed with FHL. Despite receiving HLH-2004 treatment, the disease relapsed. However, after a salvage allogeneic Hematopoietic Stem Cell Transplant (HSCT), febricity, abnormal blood cells, and neurological symptoms significantly improved.ConclusionsPrompt performance of allogeneic HSCT is crucial upon diagnosis of FHL, especially when neurological involvement is present.

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Section: Literature Searchmentioning

confidence: 99%

“…A study has shown ( 16 ) that 40%-70% of pediatric HLH patients show central nervous system involvement. HLH with central nervous system involvement is often characterized by nonspecific neurological symptoms and signs, such as seizures, mental status changes, pseudo-meningitis, and focal neurological signs.…”

Section: Literature Searchmentioning

confidence: 99%