dc.contributor.author |
Tecellioğlu, Mehmet |
|
dc.contributor.author |
Özcan, A. Cemal |
|
dc.contributor.author |
Tosun, Hatice |
|
dc.date.accessioned |
2018-07-17T12:33:30Z |
|
dc.date.available |
2018-07-17T12:33:30Z |
|
dc.date.issued |
2016 |
|
dc.identifier.citation |
Tecellioglu M, Ozcan AC, Tosun H. Multiple sclerosis associated with leber's hereditary optic neuropathy: a case report. J Turgut Ozal Med 2016;23(2):239-42. |
tr_TR |
dc.identifier.uri |
http://www.totmdergisi.org/articles/2016/volume23/issue2/2016_23_2_27.pdf |
|
dc.identifier.uri |
http://hdl.handle.net/11616/8875 |
|
dc.description.abstract |
Abstract
Leber’s hereditary optic neuropathy (LHON) is a mitochondrial inherited disease
characterized by acute/subacute painless central visual loss. Except for optic atrophy,
LHON patients are usually otherwise healthy. Occasionally, LHON is associated with
neurological, cardiac, and skeletal changes. The same MRI pattern of abnormalities can
be found in patients with LHON. It is sometimes associated with clinical signs of multiple
sclerosis (Harding Syndrome). In this report, we present the case of a male patient with
complaints of bilateral visual loss, who was diagnosed with Leber's hereditary optic
neuropathy that was confirmed by the presence of a mutation at 3460G>A position. He
was also diagnosed with comorbid multiple sclerosis which was confirmed by clinical
findings and MR imaging.
Keywords: Optic Neuropathy; Leber; Multiple Sclerosis; Hereditary. |
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dc.description.abstract |
Öz
Leber’in kalıtsal optik nöropatisi (LHON) akut/subakut, ağrısız, santral görme kaybı ile
karakterize, mitokondriyal genetik bir hastalıktır. Olguların çoğunda sadece göz tutulumu
olur, bazen kardiyak bozukluklar, nörolojik semptomlar, iskelet anormallikleri tabloya
eklenir. LHON’lu hastaların beyin ve omurilik MRG’lerinde nadir olmayarak demyelinizan
lezyonlar görülebilir, bazen multipl skleroz benzeri klinik tablo ortaya çıkabilir (Harding
Sendromu). Bu yazıda, eşzamanlı bilateral görme kaybı yakınması ile başvuran ve mt.
DNA gen mutasyonu (mt.DNA 3460G>A) saptanıp LHON tanısı alan, eşlik eden nörolojik
belirtileri ve beyin MRG bulguları multipl sklerozu telkin eden erkek olgu sunulmaktadır.
Bu olgularda tanı süreçleri ve özellikle MS tedavisi gözden geçirilmektedir.
Anahtar Kelimeler: Optik Nöropati; Leber; Multipl Skleroz; Kalıtsal. |
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dc.language.iso |
eng |
tr_TR |
dc.publisher |
Turgut Özal Tıp Merkezi Dergisi |
tr_TR |
dc.relation.isversionof |
10.5455/jtomc.2015.3242 |
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dc.rights |
info:eu-repo/semantics/openAccess |
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dc.subject |
Optic Neuropathy |
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dc.subject |
Leber |
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dc.subject |
Multiple sclerosis |
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dc.subject |
Hereditary |
tr_TR |
dc.title |
Multiple sclerosis associated with leber's hereditary optic neuropathy: a case report |
tr_TR |
dc.title.alternative |
Leber’in herediter optik nöropatisi ve multipl skleroz birlikteliği: olgu sunumu |
tr_TR |
dc.type |
article |
tr_TR |
dc.relation.ispartof |
Turgut Özal Tıp Merkezi Dergisi |
tr_TR |
dc.department |
İnönü Üniversitesi |
tr_TR |
dc.identifier.volume |
23 |
tr_TR |
dc.identifier.issue |
2 |
tr_TR |
dc.identifier.startpage |
239 |
tr_TR |
dc.identifier.endpage |
242 |
tr_TR |