Familial hemophagocytic lymphohistiocytosis type 4 (FHL4) with a rare STX11 genetic variation and leukoencephalopathy: a case report

Pediatric Hematology Oncology Journal Pub Date : 2025-04-18 DOI:10.1016/j.phoj.2025.04.004

Vaishnavi Sreenivasan , Kawaldeep Kaur , Sanghamitra Ray, Amitabh Singh, Sumit Mehndiratta, Nidhi Chopra

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引用次数: 0

Abstract

Background

Familial HLH (FHL), if untreated, has often a fatal outcome.¹ Neurological symptoms are seen in about two-thirds of FHL patients as a result of leptomeningeal and parenchymal infiltration by lymphocytes and macrophages, and suggest a poor prognosis.²

Case report

We present the case of a four-year-old girl with familial hemophagocytic lymphohistiocytosis type 4 (FHL4) with a rare homozygous mutation of STX11 who was found to have leukoencephalopathy on neuroimaging. She had an unusual finding of low ferritin on initial evaluation that was misleading for the final diagnosis.

Conclusion

CNS involvement portends a poor prognosis in HLH and must be kept in mind early in the diagnosis of FHL. Even in the presence of subtle symptoms, active investigation must be done in such cases as timely treatment is rewarded with good results.

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家族性嗜血球性淋巴组织细胞增多症4型（FHL4）伴罕见STX11遗传变异和白质脑病1例报告

家族性HLH (FHL)，如果不治疗，通常会有致命的结果约三分之二的FHL患者因淋巴细胞和巨噬细胞浸润而出现神经系统症状，提示预后不良。病例报告：我们报告一名患有家族性4型噬血细胞性淋巴组织细胞增多症（FHL4）的四岁女孩，伴有罕见的STX11纯合突变，在神经影像学上发现她患有脑白质病。她有一个不寻常的发现低铁蛋白在最初的评估，误导了最终的诊断。结论中枢神经系统受累预示着HLH预后不良，在诊断FHL时应及早注意。即使出现了细微的症状，也必须进行积极的调查，因为及时治疗会获得良好的效果。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Pediatric Hematology Oncology Journal

CiteScore

1.00

自引率

0.00%

发文量