Multiple sclerosis associated with leber's hereditary optic neuropathy: a case report

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.

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.