Title of article :
LEIGH SYNDROME: CLINICAL and PARACLINICAL STUDY
Author/Authors :
Ashrafi, M.R Department of Pediatric Neurology - Children's Medical Center -School of Medicine - Tehran University of Medical Sciences , Ghofrani, M Department of Pediatric Neurology - Mofid Children’s Hospital - School of Medicine - Shahid Beheshti University of Medicine Sciences, Tehran , Ghojevand, N Department of Radiology - Mofid Children's Hospital - School of Medicine - Shaheed Beheshti University of Medical Sciences, Tehran
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.
Keywords :
Leigh syndrome , mitochondrial disease , seizure , dystonia , encephalopathy , lethargy , blood ammonia , blood lactate
Journal title :
Astroparticle Physics
