Anti-MOG antibody encephalitis mimicking neurological deterioration in a case of Rett syndrome with MECP2 mutation
Copyright © 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved..
BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene, resulting in developmental regression after normal development during infancy. Transient presentation of many autistic features is also commonly seen in RTT. Anti-myelin oligodendrocyte glycoprotein (MOG)-antibody encephalitis is an acquired relapsing demyelinating syndrome characterized by a variety of neuroinflammatory symptoms. Here, we report a case of anti-MOG antibody encephalitis in a patient with genetically confirmed RTT, which mimicked many of the features of RTT.
CASE REPORT: A three-year-old girl presented with subacute verbal and motor dysfunction, along with involuntary movements and marked irritability. Magnetic resonance imaging (MRI) revealed extensive white matter lesions, with anti-MOG antibodies detected in the serum and cerebrospinal fluid, resulting in an initial diagnosis of anti-MOG antibody encephalitis. However, additional testing of the MECP2 gene was performed in response to persistent involuntary hand movements in combination with progressive verbal and motor deterioration. Sequencing analysis revealed a known pathogenic mutation in MEPC2, indicating a concurrent diagnosis of RTT.
CONCLUSION: Both RTT and anti-MOG antibody encephalitis are rare conditions. Similarities in disease presentation suggest that anti-MOG antibody encephalitis may mimic many of the symptoms of RTT.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2018 |
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| Erschienen: |
2018 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:40 |
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| Enthalten in: |
Brain & development - 40(2018), 10 vom: 01. Nov., Seite 943-946 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Tani, Hiroo [VerfasserIn] |
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| Links: |
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| Anmerkungen: |
Date Completed 06.11.2018 Date Revised 06.11.2018 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1016/j.braindev.2018.06.011 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM28864672X |
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| 520 | |a Copyright © 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. | ||
| 520 | |a BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene, resulting in developmental regression after normal development during infancy. Transient presentation of many autistic features is also commonly seen in RTT. Anti-myelin oligodendrocyte glycoprotein (MOG)-antibody encephalitis is an acquired relapsing demyelinating syndrome characterized by a variety of neuroinflammatory symptoms. Here, we report a case of anti-MOG antibody encephalitis in a patient with genetically confirmed RTT, which mimicked many of the features of RTT | ||
| 520 | |a CASE REPORT: A three-year-old girl presented with subacute verbal and motor dysfunction, along with involuntary movements and marked irritability. Magnetic resonance imaging (MRI) revealed extensive white matter lesions, with anti-MOG antibodies detected in the serum and cerebrospinal fluid, resulting in an initial diagnosis of anti-MOG antibody encephalitis. However, additional testing of the MECP2 gene was performed in response to persistent involuntary hand movements in combination with progressive verbal and motor deterioration. Sequencing analysis revealed a known pathogenic mutation in MEPC2, indicating a concurrent diagnosis of RTT | ||
| 520 | |a CONCLUSION: Both RTT and anti-MOG antibody encephalitis are rare conditions. Similarities in disease presentation suggest that anti-MOG antibody encephalitis may mimic many of the symptoms of RTT | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Anti-MOG antibody encephalitis | |
| 650 | 4 | |a MECP2 | |
| 650 | 4 | |a MRI | |
| 650 | 4 | |a Mutation | |
| 650 | 4 | |a Rett syndrome | |
| 650 | 7 | |a Antibodies |2 NLM | |
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| 650 | 7 | |a MOG protein, human |2 NLM | |
| 650 | 7 | |a Methyl-CpG-Binding Protein 2 |2 NLM | |
| 650 | 7 | |a Myelin-Oligodendrocyte Glycoprotein |2 NLM | |
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| 700 | 1 | |a Kobayashi, Yoshiyuki |e verfasserin |4 aut | |
| 700 | 1 | |a Yamaoka, Shohei |e verfasserin |4 aut | |
| 700 | 1 | |a Fujii, Yuji |e verfasserin |4 aut | |
| 700 | 1 | |a Kaneko, Kimihiko |e verfasserin |4 aut | |
| 700 | 1 | |a Takahashi, Toshiyuki |e verfasserin |4 aut | |
| 700 | 1 | |a Kobayashi, Masao |e verfasserin |4 aut | |
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