Familial hemophagocytic lymphohistiocytosis with central nervous system involvement as the initial clinical manifestation： A report of two cases and literature review
10.19845/j.cnki.zfysjjbzz.2025.0157
- VernacularTitle:以中枢神经系统受累为首发临床表现的家族性噬血细胞综合征2例报告并文献复习
- Author:
Pingping SUN
1
;
Xiaohong HAN
1
;
Yuping SUN
1
Author Information
1. Department of Neurology， Women and Children’s Hospital， Qingdao University， Qingdao 266034， China
- Publication Type:Journal Article
- Keywords:
Hemophagocytic lymphohistiocytosis;
Central nervous system;
PRF1 gene;
Children;
Ataxia
- MeSH:
Ataxia
- From:
Journal of Apoplexy and Nervous Diseases
2025;42(9):848-851
- CountryChina
- Language:Chinese
-
Abstract:
Familial hemophagocytic lymphohistiocytosis （FHL） with central nervous system involvement as the initial clinical manifestation is very rare and has atypical clinical manifestations， which often leads to difficulties in early diagnosis and misdiagnosis. This article reports two cases of FHL confirmed by genetic testing in Department of Neurology， Women and Children’s Hospital of Qingdao University. One patient was a boy with 1‒3 years of age， while the other patient was a girl of pre-school age； both patients had the main clinical manifestations of unstable walking and dysarthria. Brain MRI findings of the boy suggested multiple abnormal signals in the bilateral hemispheres and the cerebellum， and brain MRI findings of the girl suggested multiple symmetrical hyperintensities in the bilateral frontal lobes， the periventricular region， and the basal ganglia. Both children were found to have PRF1 gene mutations. This article reviews relevant literature to improve the understanding of this disease among clinicians， and the possibility of this disease should be considered in case of unexplained central nervous system involvement. For suspected cases， it is recommended to conduct comprehensive examinations and genetic testing， so as to achieve early diagnosis， start treatment in a timely manner， and improve prognosis.
- Full text:2025120114110421337以中枢神经系统受累为首发临床表现的家族性噬血细胞综合征2例报告并文献复习.pdf
