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Demyelinating Encephalopathy

MedGen UID:
272540
•Concept ID:
C1333272
•
Disease or Syndrome

Professional guidelines

PubMed

Diagnosis and Management of Hyponatremia: A Review.
Adrogué HJ, Tucker BM, Madias NE
JAMA 2022 Jul 19;328(3):280-291. doi: 10.1001/jama.2022.11176. PMID: 35852524
Diagnosis of multiple sclerosis: 2017 revisions of the McDonald criteria.
Thompson AJ, Banwell BL, Barkhof F, Carroll WM, Coetzee T, Comi G, Correale J, Fazekas F, Filippi M, Freedman MS, Fujihara K, Galetta SL, Hartung HP, Kappos L, Lublin FD, Marrie RA, Miller AE, Miller DH, Montalban X, Mowry EM, Sorensen PS, Tintoré M, Traboulsee AL, Trojano M, Uitdehaag BMJ, Vukusic S, Waubant E, Weinshenker BG, Reingold SC, Cohen JA
Lancet Neurol 2018 Feb;17(2):162-173. Epub 2017 Dec 21 doi: 10.1016/S1474-4422(17)30470-2. PMID: 29275977
Diagnosis, evaluation, and treatment of hyponatremia: expert panel recommendations.
Verbalis JG, Goldsmith SR, Greenberg A, Korzelius C, Schrier RW, Sterns RH, Thompson CJ
Am J Med 2013 Oct;126(10 Suppl 1):S1-42. doi: 10.1016/j.amjmed.2013.07.006. PMID: 24074529

Recent clinical studies

Etiology

Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis-the initial phenotype of PRF1 gene mutation.
Hu LY, Wan L, Wang QH, Shi XY, Meng Y, Yang XF, Yang G, Zou LP
Front Immunol 2023;14:1306338. Epub 2023 Dec 11 doi: 10.3389/fimmu.2023.1306338. PMID: 38149249Free PMC Article
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Shashi V, Schoch K, Ganetzky R, Kranz PG, Sondheimer N, Markert ML, Cope H, Sadeghpour A, Roehrs P, Arbogast T, Muraresku C; Undiagnosed Diseases Network, Tyndall AV, Esser MJ, Woodward KE, Ping-Yee Au B, Parboosingh JS, Lamont RE, Bernier FP, Wright NAM, Benseler SM, Parsons SJ, El-Dairi M, Smith EC, Valdez P, Tennison M, Innes AM, Davis EE
Genet Med 2023 Sep;25(9):100897. Epub 2023 May 13 doi: 10.1016/j.gim.2023.100897. PMID: 37191094Free PMC Article
Acute Demyelinating Encephalopathy with Positive Anti-acetylcholine Receptor Antibody Possibly after Cosmetic Use of Botulinum Toxin: A Case Report and Literature Review.
Tang L, Jiang W, Wang X
Neuro Endocrinol Lett 2022 Nov 30;43(4):213-217. PMID: 36528883
Use of quantitative susceptibility mapping (QSM) in progressive multifocal leukoencephalopathy.
Carra-Dalliere C, Menjot de Champfleur N, Deverdun J, Ayrignac X, Nerrant E, Makinson A, Casanova ML, Labauge P
J Neuroradiol 2016 Feb;43(1):6-10. Epub 2015 Oct 23 doi: 10.1016/j.neurad.2015.08.001. PMID: 26475668

Diagnosis

Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis-the initial phenotype of PRF1 gene mutation.
Hu LY, Wan L, Wang QH, Shi XY, Meng Y, Yang XF, Yang G, Zou LP
Front Immunol 2023;14:1306338. Epub 2023 Dec 11 doi: 10.3389/fimmu.2023.1306338. PMID: 38149249Free PMC Article
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Shashi V, Schoch K, Ganetzky R, Kranz PG, Sondheimer N, Markert ML, Cope H, Sadeghpour A, Roehrs P, Arbogast T, Muraresku C; Undiagnosed Diseases Network, Tyndall AV, Esser MJ, Woodward KE, Ping-Yee Au B, Parboosingh JS, Lamont RE, Bernier FP, Wright NAM, Benseler SM, Parsons SJ, El-Dairi M, Smith EC, Valdez P, Tennison M, Innes AM, Davis EE
Genet Med 2023 Sep;25(9):100897. Epub 2023 May 13 doi: 10.1016/j.gim.2023.100897. PMID: 37191094Free PMC Article
Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis.
Blincoe A, Heeg M, Campbell PK, Hines M, Khojah A, Klein-Gitelman M, Talano JA, Speckmann C, Touzot F, Lankester A, Legger GE, Rivière JG, Garcia-Prat M, Alonso L, Putti MC, Lehmberg K, Maier S, El Chazli Y, Elmaksoud MA, Astigarraga I, Kurjane N, Bulina I, Kenina V, Bryceson Y, Rascon J, Lortie A, Goldstein G, Booth C, Worth A, Wassmer E, Schmitt EG, Warren JT, Bednarski JJ, Ali S, Chiang KY, Krueger J, Henry MM, Holland SM, Marsh RA, Ehl S, Haddad E
J Clin Immunol 2020 Aug;40(6):901-916. Epub 2020 Jul 7 doi: 10.1007/s10875-020-00814-6. PMID: 32638196
Primary central nervous system lymphoma with no enhancement initially and no significant progression over a long term: a case report and review of the literature.
Hu NN, Zhang MM, Chen YY, Zhu BL
Int J Neurosci 2019 Mar;129(3):303-307. Epub 2018 Nov 22 doi: 10.1080/00207454.2018.1523159. PMID: 30207801
Use of quantitative susceptibility mapping (QSM) in progressive multifocal leukoencephalopathy.
Carra-Dalliere C, Menjot de Champfleur N, Deverdun J, Ayrignac X, Nerrant E, Makinson A, Casanova ML, Labauge P
J Neuroradiol 2016 Feb;43(1):6-10. Epub 2015 Oct 23 doi: 10.1016/j.neurad.2015.08.001. PMID: 26475668

Therapy

Acute Demyelinating Encephalopathy with Positive Anti-acetylcholine Receptor Antibody Possibly after Cosmetic Use of Botulinum Toxin: A Case Report and Literature Review.
Tang L, Jiang W, Wang X
Neuro Endocrinol Lett 2022 Nov 30;43(4):213-217. PMID: 36528883
Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis.
Blincoe A, Heeg M, Campbell PK, Hines M, Khojah A, Klein-Gitelman M, Talano JA, Speckmann C, Touzot F, Lankester A, Legger GE, Rivière JG, Garcia-Prat M, Alonso L, Putti MC, Lehmberg K, Maier S, El Chazli Y, Elmaksoud MA, Astigarraga I, Kurjane N, Bulina I, Kenina V, Bryceson Y, Rascon J, Lortie A, Goldstein G, Booth C, Worth A, Wassmer E, Schmitt EG, Warren JT, Bednarski JJ, Ali S, Chiang KY, Krueger J, Henry MM, Holland SM, Marsh RA, Ehl S, Haddad E
J Clin Immunol 2020 Aug;40(6):901-916. Epub 2020 Jul 7 doi: 10.1007/s10875-020-00814-6. PMID: 32638196
Demyelinating encephalopathy in adult onset Still's disease: case report and review of the literatures.
Jie W, Miao L, Yankun S, Hong Y, Zhongxin X
Clin Neurol Neurosurg 2013 Oct;115(10):2213-6. Epub 2013 Aug 22 doi: 10.1016/j.clineuro.2013.06.011. PMID: 23972587

Prognosis

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Shashi V, Schoch K, Ganetzky R, Kranz PG, Sondheimer N, Markert ML, Cope H, Sadeghpour A, Roehrs P, Arbogast T, Muraresku C; Undiagnosed Diseases Network, Tyndall AV, Esser MJ, Woodward KE, Ping-Yee Au B, Parboosingh JS, Lamont RE, Bernier FP, Wright NAM, Benseler SM, Parsons SJ, El-Dairi M, Smith EC, Valdez P, Tennison M, Innes AM, Davis EE
Genet Med 2023 Sep;25(9):100897. Epub 2023 May 13 doi: 10.1016/j.gim.2023.100897. PMID: 37191094Free PMC Article
Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis.
Blincoe A, Heeg M, Campbell PK, Hines M, Khojah A, Klein-Gitelman M, Talano JA, Speckmann C, Touzot F, Lankester A, Legger GE, Rivière JG, Garcia-Prat M, Alonso L, Putti MC, Lehmberg K, Maier S, El Chazli Y, Elmaksoud MA, Astigarraga I, Kurjane N, Bulina I, Kenina V, Bryceson Y, Rascon J, Lortie A, Goldstein G, Booth C, Worth A, Wassmer E, Schmitt EG, Warren JT, Bednarski JJ, Ali S, Chiang KY, Krueger J, Henry MM, Holland SM, Marsh RA, Ehl S, Haddad E
J Clin Immunol 2020 Aug;40(6):901-916. Epub 2020 Jul 7 doi: 10.1007/s10875-020-00814-6. PMID: 32638196
Primary central nervous system lymphoma with no enhancement initially and no significant progression over a long term: a case report and review of the literature.
Hu NN, Zhang MM, Chen YY, Zhu BL
Int J Neurosci 2019 Mar;129(3):303-307. Epub 2018 Nov 22 doi: 10.1080/00207454.2018.1523159. PMID: 30207801
A rare case of Primary Central Nervous System Lymphoma initially diagnosed as demyelinating encephalopathy.
Meng H, Zhou C, Hao Q, Gao J, Zhang R, Wang Z, Liu Q, Fang S
Neuro Endocrinol Lett 2015;36(2):124-6. PMID: 26071579
Acute arcuate fiber demyelinating encephalopathy following Epstein-Barr virus infection.
Paskavitz JF, Anderson CA, Filley CM, Kleinschmidt-DeMasters BK, Tyler KL
Ann Neurol 1995 Jul;38(1):127-31. doi: 10.1002/ana.410380121. PMID: 7611716

Clinical prediction guides

Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis-the initial phenotype of PRF1 gene mutation.
Hu LY, Wan L, Wang QH, Shi XY, Meng Y, Yang XF, Yang G, Zou LP
Front Immunol 2023;14:1306338. Epub 2023 Dec 11 doi: 10.3389/fimmu.2023.1306338. PMID: 38149249Free PMC Article
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Shashi V, Schoch K, Ganetzky R, Kranz PG, Sondheimer N, Markert ML, Cope H, Sadeghpour A, Roehrs P, Arbogast T, Muraresku C; Undiagnosed Diseases Network, Tyndall AV, Esser MJ, Woodward KE, Ping-Yee Au B, Parboosingh JS, Lamont RE, Bernier FP, Wright NAM, Benseler SM, Parsons SJ, El-Dairi M, Smith EC, Valdez P, Tennison M, Innes AM, Davis EE
Genet Med 2023 Sep;25(9):100897. Epub 2023 May 13 doi: 10.1016/j.gim.2023.100897. PMID: 37191094Free PMC Article
Primary central nervous system lymphoma with no enhancement initially and no significant progression over a long term: a case report and review of the literature.
Hu NN, Zhang MM, Chen YY, Zhu BL
Int J Neurosci 2019 Mar;129(3):303-307. Epub 2018 Nov 22 doi: 10.1080/00207454.2018.1523159. PMID: 30207801

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