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Article: A case report of complement C4B deficiency in a patient with steroid and IVIG-refractory anti-NMDA receptor encephalitis

TitleA case report of complement C4B deficiency in a patient with steroid and IVIG-refractory anti-NMDA receptor encephalitis
Authors
KeywordsAnti-NMDA receptor encephalitis
Homozygous C4B deficiency
Plasmapheresis
Issue Date2020
PublisherBioMed Central Ltd. The Journal's web site is located at http://www.biomedcentral.com/bmcneurol/
Citation
BMC Neurology, 2020, v. 20 n. 1, p. article no. 339 How to Cite?
AbstractBackground: Complement C4A or C4B deficiency has never been reported in autoantibody-associated encephalitides patient. Here we present a case of anti-N-methyl- D-aspartate (NMDA) receptor encephalitis associated with homozygous C4B deficiency, who did not respond to intravenous immunoglobulin and pulse methylprednisolone but plasmapheresis and rituximab. Case presentation: A fourteen-year-old boy presented to our unit with subacute onset of behavioral changes and confusion, and was later confirmed to be anti-NMDA receptor encephalitis. He was initially managed with intravenous immunoglobulin (IVIG) and pulse methylprednisolone but did not achieve any clinical improvement. Seven sessions of plasmapheresis was commenced with remarkable improvement after the second session, and was followed by four doses of rituximab. His neurological and cognitive functioning gradually returned to baseline. Immunological investigations demonstrated persistently low C4 levels below 8 mg/dL. A more in-depth complement analysis of the patient and his family showed that he has homozygous C4B deficiency. Genetic analysis revealed that the index patient has homozygous deficiency in complement C4B and he carries one non-functioning mutant C4B gene inherited from his mother. Conclusions: Low levels of serum C4 correlate with reduced functions of the classical and lectin pathways, leading to the impairment of immune-complexes removal. Plasmapheresis ameliorates complement deficiency and removes the offending immune-complexes leading to clinical improvement that was not achieved by IVIG and steroids. We postulate that serum C4 levels may serve as a biomarker for the need of plasmapheresis upfront rather than only after non-response to steroid and IVIG in treating anti-NMDA-receptor encephalitis.
Persistent Identifierhttp://hdl.handle.net/10722/304740
ISSN
2023 Impact Factor: 2.2
2023 SCImago Journal Rankings: 0.732
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorChua, GT-
dc.contributor.authorZhou, D-
dc.contributor.authorHo, ACC-
dc.contributor.authorChan, SHS-
dc.contributor.authorYu, CY-
dc.contributor.authorLau, YL-
dc.date.accessioned2021-10-05T02:34:30Z-
dc.date.available2021-10-05T02:34:30Z-
dc.date.issued2020-
dc.identifier.citationBMC Neurology, 2020, v. 20 n. 1, p. article no. 339-
dc.identifier.issn1471-2377-
dc.identifier.urihttp://hdl.handle.net/10722/304740-
dc.description.abstractBackground: Complement C4A or C4B deficiency has never been reported in autoantibody-associated encephalitides patient. Here we present a case of anti-N-methyl- D-aspartate (NMDA) receptor encephalitis associated with homozygous C4B deficiency, who did not respond to intravenous immunoglobulin and pulse methylprednisolone but plasmapheresis and rituximab. Case presentation: A fourteen-year-old boy presented to our unit with subacute onset of behavioral changes and confusion, and was later confirmed to be anti-NMDA receptor encephalitis. He was initially managed with intravenous immunoglobulin (IVIG) and pulse methylprednisolone but did not achieve any clinical improvement. Seven sessions of plasmapheresis was commenced with remarkable improvement after the second session, and was followed by four doses of rituximab. His neurological and cognitive functioning gradually returned to baseline. Immunological investigations demonstrated persistently low C4 levels below 8 mg/dL. A more in-depth complement analysis of the patient and his family showed that he has homozygous C4B deficiency. Genetic analysis revealed that the index patient has homozygous deficiency in complement C4B and he carries one non-functioning mutant C4B gene inherited from his mother. Conclusions: Low levels of serum C4 correlate with reduced functions of the classical and lectin pathways, leading to the impairment of immune-complexes removal. Plasmapheresis ameliorates complement deficiency and removes the offending immune-complexes leading to clinical improvement that was not achieved by IVIG and steroids. We postulate that serum C4 levels may serve as a biomarker for the need of plasmapheresis upfront rather than only after non-response to steroid and IVIG in treating anti-NMDA-receptor encephalitis.-
dc.languageeng-
dc.publisherBioMed Central Ltd. The Journal's web site is located at http://www.biomedcentral.com/bmcneurol/-
dc.relation.ispartofBMC Neurology-
dc.rightsBMC Neurology. Copyright © BioMed Central Ltd.-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.subjectAnti-NMDA receptor encephalitis-
dc.subjectHomozygous C4B deficiency-
dc.subjectPlasmapheresis-
dc.titleA case report of complement C4B deficiency in a patient with steroid and IVIG-refractory anti-NMDA receptor encephalitis-
dc.typeArticle-
dc.identifier.emailChua, GT: cgt560@hku.hk-
dc.identifier.emailHo, ACC: accho@hku.hk-
dc.identifier.emailChan, SHS: sophehs@hku.hk-
dc.identifier.emailLau, YL: lauylung@hku.hk-
dc.identifier.authorityChua, GT=rp02684-
dc.identifier.authorityChan, SHS=rp02210-
dc.identifier.authorityLau, YL=rp00361-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1186/s12883-020-01906-x-
dc.identifier.pmid32900365-
dc.identifier.pmcidPMC7488026-
dc.identifier.scopuseid_2-s2.0-85090729736-
dc.identifier.hkuros326309-
dc.identifier.volume20-
dc.identifier.issue1-
dc.identifier.spagearticle no. 339-
dc.identifier.epagearticle no. 339-
dc.identifier.isiWOS:000570923500002-
dc.publisher.placeUnited Kingdom-

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