Paper Information

Journal:   ACTA MEDICA IRANICA   2002 , Volume 40 , Number 4; Page(s) 236 To 240.
 
Paper: 

LEIGH SYNDROME: CLINICAL AND PARACLINICAL STUDY

 
 
Author(s):  ASHRAFI M.R.*, GHOFRANI M., GHOJEVAN N.
 
* School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
 
Abstract: 
During two years study about Mitochondrial diseases (Sep 1999- Agu 2001), 15 cases of Leigh syndrome (LS) were diagnosed, that consisted of 11 boys and 4 girls aged between 6 to 156 (mean: 40.5) months. Most of the patients (46.7 %) became symptomatic between 1-5 years of age. Triggering factors were reported in 66.6 % of the patients and 40% of them became symptomatic after infections. The most frequent presenting symptoms of the patients were somnolence and lethargy (40 %), developmental regression (20%) and seizure (13.3%). The most common neurologic findings were developmental regression or arrest (93.3%), seizure (93.3%), abnormal tone (86.7%) and abnormal movements (53.3%). Blood lactate increased in 93.3% and blood ammonia elevated in 26.7% of the cases. Symmetric striatal necrosis (100%) and caudate nucleus involvement (73.3% ) were the most frequent neuro imaging findings of the patients.
 
Keyword(s): LEIGH SYNDROME, MITOCHONDRIAL DISEASE, SEIZURE, DYSTONIA, ENCEPHALOPATHY, LETHARGY, BLOOD AMMONIA, BLOOD LACTATE
 
References: 
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