{"title":"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","authors":"Vaishnavi Sreenivasan , Kawaldeep Kaur , Sanghamitra Ray, Amitabh Singh, Sumit Mehndiratta, Nidhi Chopra","doi":"10.1016/j.phoj.2025.04.004","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><div>Familial HLH (FHL), if untreated, has often a fatal outcome.<sup>1</sup> 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.<sup>2</sup></div></div><div><h3>Case report</h3><div>We present the case of a four-year-old girl with familial hemophagocytic lymphohistiocytosis type 4 (FHL4) with a rare homozygous mutation of <em>STX11</em> 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.</div></div><div><h3>Conclusion</h3><div>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.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 2","pages":"Article 100451"},"PeriodicalIF":0.0000,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Familial hemophagocytic lymphohistiocytosis type 4 (FHL4) with a rare STX11 genetic variation and leukoencephalopathy: a case report\",\"authors\":\"Vaishnavi Sreenivasan , Kawaldeep Kaur , Sanghamitra Ray, Amitabh Singh, Sumit Mehndiratta, Nidhi Chopra\",\"doi\":\"10.1016/j.phoj.2025.04.004\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Background</h3><div>Familial HLH (FHL), if untreated, has often a fatal outcome.<sup>1</sup> 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.<sup>2</sup></div></div><div><h3>Case report</h3><div>We present the case of a four-year-old girl with familial hemophagocytic lymphohistiocytosis type 4 (FHL4) with a rare homozygous mutation of <em>STX11</em> 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.</div></div><div><h3>Conclusion</h3><div>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.</div></div>\",\"PeriodicalId\":101004,\"journal\":{\"name\":\"Pediatric Hematology Oncology Journal\",\"volume\":\"10 2\",\"pages\":\"Article 100451\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-04-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric Hematology Oncology Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2468124525000191\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Hematology Oncology Journal","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2468124525000191","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Familial hemophagocytic lymphohistiocytosis type 4 (FHL4) with a rare STX11 genetic variation and leukoencephalopathy: a case report
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.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
