AI Summary & Key Takeaways
AI InsightA new DNA point mutation (nt 8343) was found in the second family but this new mutation was accepted nonpathogen after enzymatic studies of the mitochondrial complexes.
📌 3 Key Takeaways
Abstract
Leigh's syndrome (subacute necrotizing encephalomyelopathy) is a progressive neu-rodegenerative disorder with onset usually in infancy or early childhood. Clinical signs include motor and/or intellectual abnormalities, nystagmus and ophthalmo-paresis, ataxia and optic atrophy. Several mutations of somatic and mitochondrial DNA were identified. In this report we represent four siblings from two different families diagnosed as Leigh's syndrome with two different DNA mutations. These patients referred to the hospital with psychomotor retardation, muscle weakness, hypotonia, epileptic seizures. The disease showed fulminant progression and all of the patients were lost with signs of brainstem dysfunction. Nucleotide (nt) 8993 mutation which is the most common DNA point mutation in Leigh's syndrome was determined in the first family. A new DNA point mutation (nt 8343) was found in the second family but this new mutation was accepted nonpathogen after enzymatic studies of the mitochondrial complexes.
Özet
Leigh sendromu (subakut nekrotizan ansefalopati) infant ve erken çocukluk döneminde ortaya çıkan progresif bir nörodejeneratif hastalıktır. Klinik bulgular arasında motor ve/veya mental retardasyon, hipotoni, solunum anormallikleri, nistagmus ve oftalmoparezi, ataksi ve optik atrofi vardır. Hastalıkla ilgili somatik ve mitokondriyal DNA mutasyonları tanımlanmıştır. Bu yazıda Leigh sendromu tanılı, iki ayrı DNA mutasyonu gösterilmiş iki ayrı aileden dört kardeş olgu sunulmuştur. Hastalar hastaneye psikomotor retardasyon, kas zayıflığı, hipotoni ve epileptik nöbetler ile başvurdu. Hastalık tüm olgularda hızla ilerledi ve dört olgu da beyin sapı disfonksiyonu ile kaybedildi. Yapılan incelemelerle birinci ailede en sık mutasyon olan nükleotid (nt) 8993 mutasyonu ve ikinci ailede enzimatik çalışmalardan sonra nonpatojen kabul edilen yeni bir DNA nokta mutasyonu (nt 8343) saptandı.