TY  - JOUR
T1  - Ensefalopati Tablosuyla Gelen Leigh Sendromu
TT  - Leigh’s Syndrome Presenting with Encephalopathy
AU  - Haliloğlu, Belma
AU  - Fedakar, Atiye
PY  - 2010
DA  - April
DO  - 10.5222/j.child.2010.094
JF  - Çocuk Dergisi
PB  - Istanbul University
WT  - DergiPark
SN  - 1308-8491
SP  - 94
EP  - 97
VL  - 10
IS  - 2
LA  - tr
AB  - 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
KW  - Leigh’s sendromu
KW  - ensefalopati
KW  - metabolik hastalık
N2  - 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
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UR  - https://doi.org/10.5222/j.child.2010.094
L1  - https://dergipark.org.tr/en/download/article-file/1328220
ER  -