CASE REPORT article
Front. Immunol.
Sec. Inflammation
Volume 16 - 2025 | doi: 10.3389/fimmu.2025.1586288
This article is part of the Research TopicNeuroinflammation: Mechanisms and Therapeutic InterventionsView all 9 articles
Complete recovery after complement factor I deficiency associated fulminant acute hemorrhagic leukoencephalitis: a case report
Provisionally accepted
Fanni Szumutku*
Lena SzaboZoltan LiptaiEdit VargaTimea SesztakPeter BarsiAdam GoschlerGabor SzarvasKlara Horvath
Zoltan Prohaszka
Agnes SzilagyiSarolta Dobner- Semmelweis University, Budapest, Hungary
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IntroductionAcute hemorrhagic leukoencephalitis (AHLE) is a rare, fulminant neuroinflammatory disease with high mortality rate. It most often occurs after infections; however, the exact etiology of the disease remains unclear. We highlight that complement factor I (FI) deficiency may be a possible cause of AHLE.Case reportWe describe a 9-year-old patient presenting with fever, headache, dizziness, ataxia, and diplopia, who developed rapid neurologic decline and refractory intracranial pressure elevation. Based on clinical, laboratory, and MRI findings, AHLE was diagnosed. Successful treatment included therapeutic plasma exchange (PEX) and early decompressive craniectomy. At one year of follow-up, the patient showed complete recovery. Complement testing of the patient revealed complete FI deficiency. Genetic workup uncovered a germline pathogenic variant in the CFI gene. Discussion:As AHLE is an emerging phenotype of complement FI deficiency, with only a few previously reported cases in the literature, high clinical suspicion and awareness among clinicians are needed. To control the complement system, prompt blockade with complement FI substitution via PEX and early decompressive craniectomy may be life-saving. In neuroinflammatory diseases with unknown etiology, complement testing is recommended.
Keywords: Acute hemorrhagic leukoencephalitis, complement factor I deficiency, Neuroinflammatory disease, immune-mediated neurological disorder, case report
Received: 02 Mar 2025; Accepted: 30 May 2025.
Copyright: © 2025 Szumutku, Szabo, Liptai, Varga, Sesztak, Barsi, Goschler, Szarvas, Horvath, Prohaszka, Szilagyi and Dobner. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Fanni Szumutku, Semmelweis University, Budapest, Hungary
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