Ensefalopati Tablosuyla Gelen Leigh Sendromu

Year 2010, , 94 - 97, 01.04.2010

Belma Haliloğlu Atiye Fedakar

https://doi.org/10.5222/j.child.2010.094

Abstract

Leigh sendromu mitokondriyal respiratuvar enzim zinci- rindeki kusur veya piruvat dehidrogenaz kompleksindeki yetersizlik sonucu beyin, beyin sapı ve omurilikte demyeli- nizasyon, gliozis, nekroz ve kapiller proliferasyonla karak- terize bir subakut nekrotizan ensefalomyelopati tablosudur. Çoğunlukla infantil tipi görülmekle beraber çocukluk ve erişkin tipleri de bulunmaktadır. Genetik geçiş biyokimya- sal defekte göre heterojenite gösterir. Klinik bulguları arasında artmış laktata bağlı letarji, beslenme azlığı, taşipne gibi nonspesifik bulgular, gelişme geriliği, hipoto- ni, intermittan ataksi, anormal göz hareketleri ve nöbetler yer alır. Bu yazıda ensefalopati tablosuyla başvuran Leigh sendromu tanısı alan 3 aylık bir vakamızda olduğu gibi özellikle sütçocukluğu döneminde metabolik tarama nor- mal gelse bile doğumsal metabolik hastalıkların akıldan çıkarılmaması gerektiğini vurgulamak istedik

Keywords

Leigh’s sendromu, ensefalopati, metabolik hastalık

Leigh’s Syndrome Presenting with Encephalopathy

Abstract

Leigh’s Syndrome is a subacute necrotizing encefalomyelo- pathy characterized by capillary proliferation, necrosis, gliosis, demyelinisation of brain, spinal cord, medulla oblongata, pons and mesencephalon. It’s caused by a defi- ciency in mitochondrial respiratory enzyme cycles or defi- ciency of an enzyme called pyruvate dehydrogenase. Usually infantile type is seen but childhood and adult types are present too. Genetic inheritance is heterogenic due to biochemical deficiency. Seizures, abnormal eye move- ments, intermittent ataxia, hypotonia, growth disorder, and some nonspecific findings; lethargy, lack of feeding, tachy- pnea due to increased lactate are some of the clinical fin- dings. We emphasized that, even if metabolic screening test results are normal, inherited metabolic diseases as seen in our case should be kept in mind

Keywords

Leigh’s syndrome, encephalopathy, metabolic diseases

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