Case report: Mild encephalitis with a reversible splenial lesion associated with SARS-CoV-2 infection in a patient with MYRF variant

Saito, Miku; Nakazawa, Tomoyuki; Toriumi, Shun; Takasu, Michihiko; Yagisawa, Hiromi; Murano, Yayoi; Miyazaki, Nao; Kurahashi, Hirokazu; Okumura, Akihisa; Shimizu, Toshiaki

doi:10.3389/fped.2022.971432

Cited by 4 publications

(7 citation statements)

References 16 publications

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“…Of the respondents, 26 (12.0%) reported 39 cases of suspected acute encephalopathy. Six of these cases were excluded because they did not meet the criteria for acute encephalopathy: one because the duration of consciousness impairment was < 24 h, two because the time between infection and the appearance of neurological symptoms exceeded 14 days, and three because underlying chromosomal or genetic abnormalities [1p36 deletion syndrome, SCN8A encephalopathy, and MYRF variant with recurrent MERS (Saito et al, 2022)]. Hence, 33 patients fulfilled the definition of acute encephalopathy.…”

Section: Resultsmentioning

confidence: 99%

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Severe pediatric acute encephalopathy syndromes related to SARS-CoV-2

Sakuma

Takanashi²,

Muramatsu³

et al. 2023

Front. Neurosci.

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Background and objectivesTo clarify whether severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection cause acute encephalopathy in children and which are the most common syndromes that cause them and what are the outcomes.MethodsA nationwide web-based survey among all members of the Japanese Society of Child Neurology to identify pediatric patients aged < 18 years who developed acute encephalopathy in Japan between 1 January 2020 and 31 May 2022 associated with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection confirmed by polymerase chain reaction or antigen tests using pharyngeal swabs. Acute encephalopathy was defined as acute onset of impaired consciousness lasting > 24 h or an altered mental state; neurological symptoms arising within 2 weeks of onset of COVID-19 or multisystem inflammatory syndrome in children (MIS-C)/pediatric inflammatory multisystem syndrome (PIMS); evidence of SARS-CoV-2 infection; and reasonable exclusion of other diseases. Patients were divided into the known clinico-radiological acute encephalopathy syndrome group and unexplained or unclassifiable acute encephalopathy group. Outcomes were assessed by pediatric cerebral performance category (PCPC) score at hospital discharge.ResultsOf the 3,802 society members, 217 representing institutions responded, and 39 patients with suspected acute encephalopathy were reported, of which 31 met inclusion criteria. Of these patients, 14 were diagnosed with known clinico-radiological acute encephalopathy syndromes, with acute encephalopathy with biphasic seizures and late reduced diffusion (five patients) being the most common. Five developed acute encephalopathy associated with MIS-C/PIMS. Among 31 patients, 9 (29.0%) had severe sequelae or died (PCPC ≥ 4). Two of three patients with encephalopathy with acute fulminant cerebral edema and two with hemorrhagic shock and encephalopathy syndrome died. The PCPC scores were higher in the known clinico-radiological acute encephalopathy syndrome group than in the unexplained or unclassifiable acute encephalopathy group (P < 0.01).DiscussionAcute encephalopathy related to SARS-CoV-2 infection was demonstrated to be more severe than that caused by other viruses in Japan. Acute encephalopathy syndromes characterized by specific neuroradiological findings was associated with poor clinical outcomes.

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Section: Resultsmentioning

confidence: 99%

“…If a patient had underlying disability and recovered to baseline status after the illness, the PCPC score was rated 1. Some patient details have been submitted for publication as case reports by their treating physicians (Nishimura et al, 2022;Saito et al, 2022).…”

Section: Methodsmentioning

confidence: 99%

Severe pediatric acute encephalopathy syndromes related to SARS-CoV-2

Sakuma

Takanashi²,

Muramatsu³

et al. 2023

Front. Neurosci.

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“…A pathogenic variant of MYRF is also associated with neurological conditions characterized by extensive myelin vacuolization, reflecting similar findings observed in mice where Myrf plays a crucial role in regulating myelination. [49,50]…”

Section: Humansmentioning

confidence: 99%

“…A heterozygous MYRF variant (p.Gln403Arg, in the DNA-binding domain) appears to be linked to extensive myelin vacuolization observed in identified patients. [49,50] These individuals have been diagnosed with a condition known as mild encephalitis or encephalopathy with a reversible splenial lesion (MERS). MERS is characterized by neurological symptoms like altered mental status, seizures, confusion, and so on, and is identified by intensified signals in the splenium of the corpus callosum through magnetic resonance imaging (MRI).…”

Section: Myelinmentioning

confidence: 99%

MYRF: A unique transmembrane transcription factor‐ from proteolytic self‐processing to its multifaceted roles in animal development

Qi,

Xu,

Shen

et al. 2024

BioEssays

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The Myelin Regulator Factor (MYRF) is a master regulator governing myelin formation and maintenance in the central nervous system. The conservation of MYRF across metazoans and its broad tissue expression suggest it has functions extending beyond the well‐established role in myelination. Loss of MYRF results in developmental lethality in both invertebrates and vertebrates, and MYRF haploinsufficiency in humans causes MYRF‐related Cardiac Urogenital Syndrome, underscoring its importance in animal development; however, these mechanisms are largely unexplored. MYRF, an unconventional transcription factor, begins embedded in the membrane and undergoes intramolecular chaperone mediated trimerization, which triggers self‐cleavage, allowing its N‐terminal segment with an Ig‐fold DNA‐binding domain to enter the nucleus for transcriptional regulation. Recent research suggests developmental regulation of cleavage, yet the mechanisms remain enigmatic. While some parts of MYRF's structure have been elucidated, others remain obscure, leaving questions about how these motifs are linked to its intricate processing and function.

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“…Currently, knowledge regarding MMERV has been based on two familial MMERV, which may be underdiagnosed due to limited awareness of the disease among clinicians and the fact that genetic testing technology is not yet fully available. Infectious diseases in children are a major triggering factor for MMERV ( Imamura et al, 2010 ; Kurahashi et al, 2018 ; Saito et al, 2022 ). The clinical manifestations of MMERV include seizures, impaired speech (such as lack of fluency, dysarthria, and language difficulties), recurrent episodes of impaired consciousness (confusion or delirium), spontaneous motor difficulties, and limb numbness ( Imamura et al, 2010 ; Kurahashi et al, 2018 ; Saito et al, 2022 ).…”

Section: Introductionmentioning

confidence: 99%

MYRF-related mild encephalopathy with reversible myelin vacuolization: a case report and literature review

Yao,

Mo,

Luo

et al. 2023

Front. Genet.

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Background:MYRF-related mild encephalopathy with reversible myelin vacuolization (MMERV) is an inherited neurological disorder characterized by dysfunction in the central nervous system and widespread reversible leukoencephalopathy. This paper presents a confirmed case of familial MMERV and summarizes pertinent features to offer guidance for future diagnosis and treatment of MMERV.Case Introduction: We have diagnosed a case of MMERV based on a history of seizures during early childhood and recurrent speech fluency issues in adulthood, reversible abnormal intensities in bilateral white matter in the centrum semiovale and corpus callosum, and the identification of myelin regulatory factor (MYRF) heterozygous variants.Conclusion:MYRF-related mild encephalopathy with reversible myelin vacuolization is a rare autosomal dominant genetic disease, with early clinical manifestations often being seizures. The definitive diagnosis of MMERV can be confirmed through genetic analysis. Minimizing infections can help reduce disease recurrence. However, future research should explore the impact of MYRF heterozygous variants in the wider MMERV population.

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Case report: Mild encephalitis with a reversible splenial lesion associated with SARS-CoV-2 infection in a patient with MYRF variant

Cited by 4 publications

References 16 publications

Severe pediatric acute encephalopathy syndromes related to SARS-CoV-2

Severe pediatric acute encephalopathy syndromes related to SARS-CoV-2

MYRF: A unique transmembrane transcription factor‐ from proteolytic self‐processing to its multifaceted roles in animal development

MYRF-related mild encephalopathy with reversible myelin vacuolization: a case report and literature review

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