Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T > C in MTND5

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F16%3A10329973" target="_blank" >RIV/00064165:_____/16:10329973 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/16:10329973 RIV/00064203:_____/16:10329973 RIV/00216208:11130/16:10329973

Result on the web

<a href="http://dx.doi.org/10.3109/13816810.2015.1092045" target="_blank" >http://dx.doi.org/10.3109/13816810.2015.1092045</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.3109/13816810.2015.1092045" target="_blank" >10.3109/13816810.2015.1092045</a>

Result language

angličtina

Original language name

Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T > C in MTND5

Original language description

Background: Leber hereditary optic neuropathy (LHON) and mitochondrial encephalopathy, myopathy, lactic acidosis and stroke-like episodes (MELAS) syndromes are mitochondrially inherited disorders characterized by acute visual failure and variable multiorgan system presentation, respectively. Materials and methods: A 12-year-old girl with otherwise unremarkable medical history presented with abrupt, painless loss of vision. Over the next few months, she developed moderate sensorineural hearing loss, vertigo, migraines, anhedonia and thyroiditis. Ocular examination confirmed bilateral optic nerve atrophy. Metabolic workup documented elevated cerebrospinal fluid lactate. Initial genetic analyses excluded the three most common LHON mutations. Subsequently, Sanger sequencing of the entire mitochondrial DNA (mtDNA) genome was performed. Results: Whole mtDNA sequencing revealed a pathogenic heteroplasmic mutation m.13046T>C in MTND5 encoding the ND5 subunit of complex I. This particular variant has previously been described in a single case report of MELAS/Leigh syndrome (subacute necrotizing encephalopathy). Based on the constellation of clinical symptoms in our patient, we diagnose the condition as LHON/MELAS overlap syndrome. Conclusions: We describe a unique presentation of LHON/MELAS overlap syndrome resulting from a m.13046T>C mutation in a 12-year-old girl. In patients with sudden vision loss in which three of the most prevalent LHON mitochondrial mutations have been ruled out, molecular genetic examination should be extended to other mtDNA-encoded subunits of MTND5 complex I. Furthermore, atypical clinical presentations must be considered, even in well-described phenotypes.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FG - Paediatrics

OECD FORD branch

—

Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2016

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Ophthalmic Genetics

ISSN

1381-6810

e-ISSN

—

Volume of the periodical

37

Issue of the periodical within the volume

4

Country of publishing house

US - UNITED STATES

Number of pages

5

Pages from-to

419-423

UT code for WoS article

000387780700011

EID of the result in the Scopus database

2-s2.0-84958748682