Cargando…
Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case report
BACKGROUND: A unique patient with MELAS syndrome, who initially masqueraded as having acute encephalitis and was eventually diagnosed with MELAS syndrome harboring a mtDNA 14453G → A mutation, is described. CASE PRESENTATION: A 74-year-old Japanese man was admitted to another hospital due to acute o...
Autores principales: | , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7298965/ https://www.ncbi.nlm.nih.gov/pubmed/32552696 http://dx.doi.org/10.1186/s12883-020-01818-w |
_version_ | 1783547307551096832 |
---|---|
author | Yokota, Yuki Hara, Makoto Akimoto, Takayoshi Mizoguchi, Tomotaka Goto, Yu-ichi Nishino, Ichizo Kamei, Satoshi Nakajima, Hideto |
author_facet | Yokota, Yuki Hara, Makoto Akimoto, Takayoshi Mizoguchi, Tomotaka Goto, Yu-ichi Nishino, Ichizo Kamei, Satoshi Nakajima, Hideto |
author_sort | Yokota, Yuki |
collection | PubMed |
description | BACKGROUND: A unique patient with MELAS syndrome, who initially masqueraded as having acute encephalitis and was eventually diagnosed with MELAS syndrome harboring a mtDNA 14453G → A mutation, is described. CASE PRESENTATION: A 74-year-old Japanese man was admitted to another hospital due to acute onset of cognitive impairment and psychosis. After 7 days he was transferred to our hospital with seizures and deteriorating psychosis. The results of primary ancillary tests that included EEG, CSF findings, and brain MRI supported the diagnosis of an acute encephalitis. HSV-DNA and antibodies against neuronal surface antigens in the CSF were all negative. With the assistance of the lactate peak on the brain lesions in the magnetic resonance spectroscopy image and genetic analysis of the biopsied muscle, he was eventually diagnosed with MELAS syndrome harboring mtDNA 14453G → A mutation in the ND6 gene. CONCLUSIONS: This case provides a caveat that MELAS syndrome can manifest in the symptoms and ancillary tests masquerading as an acute encephalitis caused by infection or autoimmunity. This is the first adult patient seen to harbor the mtDNA14453G → A with a unique onset, which broadens the phenotypic spectrum of MELAS syndrome associated with ND6 gene mutation. |
format | Online Article Text |
id | pubmed-7298965 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-72989652020-06-18 Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case report Yokota, Yuki Hara, Makoto Akimoto, Takayoshi Mizoguchi, Tomotaka Goto, Yu-ichi Nishino, Ichizo Kamei, Satoshi Nakajima, Hideto BMC Neurol Case Report BACKGROUND: A unique patient with MELAS syndrome, who initially masqueraded as having acute encephalitis and was eventually diagnosed with MELAS syndrome harboring a mtDNA 14453G → A mutation, is described. CASE PRESENTATION: A 74-year-old Japanese man was admitted to another hospital due to acute onset of cognitive impairment and psychosis. After 7 days he was transferred to our hospital with seizures and deteriorating psychosis. The results of primary ancillary tests that included EEG, CSF findings, and brain MRI supported the diagnosis of an acute encephalitis. HSV-DNA and antibodies against neuronal surface antigens in the CSF were all negative. With the assistance of the lactate peak on the brain lesions in the magnetic resonance spectroscopy image and genetic analysis of the biopsied muscle, he was eventually diagnosed with MELAS syndrome harboring mtDNA 14453G → A mutation in the ND6 gene. CONCLUSIONS: This case provides a caveat that MELAS syndrome can manifest in the symptoms and ancillary tests masquerading as an acute encephalitis caused by infection or autoimmunity. This is the first adult patient seen to harbor the mtDNA14453G → A with a unique onset, which broadens the phenotypic spectrum of MELAS syndrome associated with ND6 gene mutation. BioMed Central 2020-06-17 /pmc/articles/PMC7298965/ /pubmed/32552696 http://dx.doi.org/10.1186/s12883-020-01818-w Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Case Report Yokota, Yuki Hara, Makoto Akimoto, Takayoshi Mizoguchi, Tomotaka Goto, Yu-ichi Nishino, Ichizo Kamei, Satoshi Nakajima, Hideto Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case report |
title | Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case report |
title_full | Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case report |
title_fullStr | Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case report |
title_full_unstemmed | Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case report |
title_short | Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case report |
title_sort | late-onset melas syndrome with mtdna 14453g→a mutation masquerading as an acute encephalitis: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7298965/ https://www.ncbi.nlm.nih.gov/pubmed/32552696 http://dx.doi.org/10.1186/s12883-020-01818-w |
work_keys_str_mv | AT yokotayuki lateonsetmelassyndromewithmtdna14453gamutationmasqueradingasanacuteencephalitisacasereport AT haramakoto lateonsetmelassyndromewithmtdna14453gamutationmasqueradingasanacuteencephalitisacasereport AT akimototakayoshi lateonsetmelassyndromewithmtdna14453gamutationmasqueradingasanacuteencephalitisacasereport AT mizoguchitomotaka lateonsetmelassyndromewithmtdna14453gamutationmasqueradingasanacuteencephalitisacasereport AT gotoyuichi lateonsetmelassyndromewithmtdna14453gamutationmasqueradingasanacuteencephalitisacasereport AT nishinoichizo lateonsetmelassyndromewithmtdna14453gamutationmasqueradingasanacuteencephalitisacasereport AT kameisatoshi lateonsetmelassyndromewithmtdna14453gamutationmasqueradingasanacuteencephalitisacasereport AT nakajimahideto lateonsetmelassyndromewithmtdna14453gamutationmasqueradingasanacuteencephalitisacasereport |