Uluç YİŞ, Orkide HÜDAOĞLU, Semra KURUL, Handan ÇAKMAKÇI, Erdener ÖZER, Eray DİRİK

Parsiyel sitokrom C oksidaz eksikliği ile ilişkili Leigh sendromu: Olgu sunumu

Leigh sendromu en çok "sitokrom c oksidaz" eksikliği sonucu ortaya çıkan ve erken süt çocukluğu döneminde nöbet, gelişme geriliği, hipotoni, solunum bozuklukları ve laktik asit yüksekliği ile karakterize bir mitokondrial ensefalomyopatidir. Enzim eksikliği parsiyel olan vakalarda klinik seyir ve laboratuvar bulguları daha farklı olabilmektedir. Bu yazıda altı aylıkken dirençli nöbetler ve psikomotor gerilik ile getirilen, yenidoğan döneminde laktik asit ve kraniyal MRG tetkiki normal olmasına rağmen izlemde laktik asiti yükselen ve kortikal atrofi gelişen parsiyel "sitokrom c oksidaz" eksikliği ile ilişkili Leigh sendromlu bir vaka sunulmaktadır.

Anahtar Kelimeler:

Sitokrom-c oksidaz eksikliği, Elektron taşıma kompleksi IV, Süt çocuğu, Leigh hastalığı, Psikomotor bozukluklar

Partial cytocrom C oxidase deficiency related Leigh syndrome: A case report

Leigh disease is a mitochondrial encephalomyopathy that is frequently caused by "cytocrom c oxidase" deficiency and is characterised with seizures, psychomotor deficiency, hypotonia, respiratory arrest and lactic acidosis in the early infancy period. Patients who have partial deficiency of the enzyme have different laboratory and clinical findings. We report a case with partial "cytocrom c oxidase" deficiency associated Leigh Syndrome who was admitted with refractory seizures and psychomotor retardation when she was 6-months-old with a raised lactic acid and cortical atrophy although the lactic acid level and cranial MRI were in normal ranges in her newborn period.

Keywords:

Cytochrome-c Oxidase Deficiency, Electron Transport Complex IV, Infant, Leigh Disease, Psychomotor Disorders,

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