Case Report: Multiple peripheral nerve demyelinating lesions and cerebrovascular injury which resulted in extensive cerebral infarction in a XLP1 patient without EBV infection
X-linked lymphocytic proliferative disease type 1 (XLP1) is a primary immune deficiency caused by genetic alterations in the SH2D1A gene, exhibiting a wide variety of severe clinical phenotypes and high mortality. We present the case of a 16-year-old male patient diagnosed with XLP1 who suffered fro...
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Frontiers Media S.A.
2025-05-01
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| Series: | Frontiers in Immunology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fimmu.2025.1580909/full |
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| author | Jiaxun Li Dongcan Mo Luyu Lv Fuling Huang Binyan Wu Chunjuan He Hao Wu Wenpeng Pang Yan Li Liping Guo Liping Guo Man Luo |
| author_facet | Jiaxun Li Dongcan Mo Luyu Lv Fuling Huang Binyan Wu Chunjuan He Hao Wu Wenpeng Pang Yan Li Liping Guo Liping Guo Man Luo |
| author_sort | Jiaxun Li |
| collection | DOAJ |
| description | X-linked lymphocytic proliferative disease type 1 (XLP1) is a primary immune deficiency caused by genetic alterations in the SH2D1A gene, exhibiting a wide variety of severe clinical phenotypes and high mortality. We present the case of a 16-year-old male patient diagnosed with XLP1 who suffered from multiple peripheral nerve demyelinating lesions and extensive cerebral infarction, resulting in two consecutive admissions. The onset of symptoms in his first admission were presented with right foot weakness and difficulty walking. The electromyogram findings revealed multiple peripheral nerve damage of bilateral lower limbs, mainly demyelination. Combined with the cerebrospinal fluid tests and medical history, the patient was diagnosed with chronic inflammatory demyelinating multiple radiculopathy (CIDP). After neurological rehabilitation physiotherapy, vitamin B12 supplements and hormonotherapy, the patient’s symptoms improved and he was discharged. Ten days after discharge, he was readmitted with dizziness, lethargy, memory and cognitive decline. Imaging findings included MRI, Arterial spin labeling (ASL) and magnetic resonance spectral (MRS) confirmed that the patient had suffered from a cerebral infarction, the results of follow-up magnetic resonance angiography (MRA) and magnetic resonance vessel wall imaging were consistent with the typical imaging findings of cerebral vasculitis. No EBV infection was detected during his two admissions, which was extremely rare in XLP1 cases. Due to the patient’s guardians declining the hematopoietic stem cell transplantation (HSCT), we were limited to symptomatic and supportive treatments, focusing on improving brain metabolism, and with a transitory stable condition at present. This case expands our understanding of rare XLP1 complications, shows a potential to study on the immune-related mechanism of possibly lymphocytic abnormal proliferation disorder associated with XLP1 involving both peripheral nerves and cerebrovascular, underscores that XLP1 patients should have regular examinations on their central and peripheral nervous system in order to detect early lesions and prevent serious consequences. And we are able to gain valuable experience and lessons from the patient’s disease progression and prognosis. |
| format | Article |
| id | doaj-art-a1fd30aa836042848d070879e5cbab0a |
| institution | DOAJ |
| issn | 1664-3224 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Immunology |
| spelling | doaj-art-a1fd30aa836042848d070879e5cbab0a2025-08-20T03:21:51ZengFrontiers Media S.A.Frontiers in Immunology1664-32242025-05-011610.3389/fimmu.2025.15809091580909Case Report: Multiple peripheral nerve demyelinating lesions and cerebrovascular injury which resulted in extensive cerebral infarction in a XLP1 patient without EBV infectionJiaxun Li0Dongcan Mo1Luyu Lv2Fuling Huang3Binyan Wu4Chunjuan He5Hao Wu6Wenpeng Pang7Yan Li8Liping Guo9Liping Guo10Man Luo11Department of Microbiology, School of Basic Medicine, Guangxi Medical University, Guangxi, Nanning, ChinaDepartment of Neurology, The First Affiliated Hospital of Guangxi Medical University, Guangxi, Nanning, ChinaGuangxi Key Laboratory of Thalassemia Research, Guangxi Medical University, Guangxi, Nanning, ChinaDepartment of Radiology, The First Affiliated Hospital of Guangxi Medical University, Guangxi, Nanning, ChinaDepartment of Cardiology, Guigang People’s Hospital, Guangxi, Guigang, ChinaDepartment of Microbiology, School of Basic Medicine, Guangxi Medical University, Guangxi, Nanning, ChinaDepartment of Microbiology, School of Basic Medicine, Guangxi Medical University, Guangxi, Nanning, ChinaDepartment of Microbiology, School of Basic Medicine, Guangxi Medical University, Guangxi, Nanning, ChinaDepartment of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Guangxi, Nanning, ChinaDepartment of Microbiology, School of Basic Medicine, Guangxi Medical University, Guangxi, Nanning, ChinaKey Laboratory of Basic Research on Regional Diseases (Guangxi Medical University), Education Department of Guangxi Zhuang Autonomous Region, Guangxi, Naning, ChinaDepartment of Neurology, The First Affiliated Hospital of Guangxi Medical University, Guangxi, Nanning, ChinaX-linked lymphocytic proliferative disease type 1 (XLP1) is a primary immune deficiency caused by genetic alterations in the SH2D1A gene, exhibiting a wide variety of severe clinical phenotypes and high mortality. We present the case of a 16-year-old male patient diagnosed with XLP1 who suffered from multiple peripheral nerve demyelinating lesions and extensive cerebral infarction, resulting in two consecutive admissions. The onset of symptoms in his first admission were presented with right foot weakness and difficulty walking. The electromyogram findings revealed multiple peripheral nerve damage of bilateral lower limbs, mainly demyelination. Combined with the cerebrospinal fluid tests and medical history, the patient was diagnosed with chronic inflammatory demyelinating multiple radiculopathy (CIDP). After neurological rehabilitation physiotherapy, vitamin B12 supplements and hormonotherapy, the patient’s symptoms improved and he was discharged. Ten days after discharge, he was readmitted with dizziness, lethargy, memory and cognitive decline. Imaging findings included MRI, Arterial spin labeling (ASL) and magnetic resonance spectral (MRS) confirmed that the patient had suffered from a cerebral infarction, the results of follow-up magnetic resonance angiography (MRA) and magnetic resonance vessel wall imaging were consistent with the typical imaging findings of cerebral vasculitis. No EBV infection was detected during his two admissions, which was extremely rare in XLP1 cases. Due to the patient’s guardians declining the hematopoietic stem cell transplantation (HSCT), we were limited to symptomatic and supportive treatments, focusing on improving brain metabolism, and with a transitory stable condition at present. This case expands our understanding of rare XLP1 complications, shows a potential to study on the immune-related mechanism of possibly lymphocytic abnormal proliferation disorder associated with XLP1 involving both peripheral nerves and cerebrovascular, underscores that XLP1 patients should have regular examinations on their central and peripheral nervous system in order to detect early lesions and prevent serious consequences. And we are able to gain valuable experience and lessons from the patient’s disease progression and prognosis.https://www.frontiersin.org/articles/10.3389/fimmu.2025.1580909/fullX-linked lymphoproliferative syndrome type 1multiple peripheral nerve demyelinating lesionscerebral infarctionSH2D1A genecase report |
| spellingShingle | Jiaxun Li Dongcan Mo Luyu Lv Fuling Huang Binyan Wu Chunjuan He Hao Wu Wenpeng Pang Yan Li Liping Guo Liping Guo Man Luo Case Report: Multiple peripheral nerve demyelinating lesions and cerebrovascular injury which resulted in extensive cerebral infarction in a XLP1 patient without EBV infection Frontiers in Immunology X-linked lymphoproliferative syndrome type 1 multiple peripheral nerve demyelinating lesions cerebral infarction SH2D1A gene case report |
| title | Case Report: Multiple peripheral nerve demyelinating lesions and cerebrovascular injury which resulted in extensive cerebral infarction in a XLP1 patient without EBV infection |
| title_full | Case Report: Multiple peripheral nerve demyelinating lesions and cerebrovascular injury which resulted in extensive cerebral infarction in a XLP1 patient without EBV infection |
| title_fullStr | Case Report: Multiple peripheral nerve demyelinating lesions and cerebrovascular injury which resulted in extensive cerebral infarction in a XLP1 patient without EBV infection |
| title_full_unstemmed | Case Report: Multiple peripheral nerve demyelinating lesions and cerebrovascular injury which resulted in extensive cerebral infarction in a XLP1 patient without EBV infection |
| title_short | Case Report: Multiple peripheral nerve demyelinating lesions and cerebrovascular injury which resulted in extensive cerebral infarction in a XLP1 patient without EBV infection |
| title_sort | case report multiple peripheral nerve demyelinating lesions and cerebrovascular injury which resulted in extensive cerebral infarction in a xlp1 patient without ebv infection |
| topic | X-linked lymphoproliferative syndrome type 1 multiple peripheral nerve demyelinating lesions cerebral infarction SH2D1A gene case report |
| url | https://www.frontiersin.org/articles/10.3389/fimmu.2025.1580909/full |
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