Leigh syndrome: Clinical and paraclinical study
During two years study about mitochondrial disease (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 r...
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| Format: | Article |
| Language: | English |
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Tehran University of Medical Sciences
2002-12-01
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| Series: | Acta Medica Iranica |
| Subjects: | |
| Online Access: | https://acta.tums.ac.ir/index.php/acta/article/view/2618 |
| _version_ | 1818039004075917312 |
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| author | "Ashrafi MR Ghofrani M Ghojevand N " |
| author_facet | "Ashrafi MR Ghofrani M Ghojevand N " |
| author_sort | "Ashrafi MR |
| collection | DOAJ |
| description | During two years study about mitochondrial disease (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 neuroimaging findings of the patients. |
| first_indexed | 2024-12-10T07:51:44Z |
| format | Article |
| id | doaj.art-383d55d3bc884da5b4eafa82aebb830e |
| institution | Directory Open Access Journal |
| issn | 0044-6025 1735-9694 |
| language | English |
| last_indexed | 2024-12-10T07:51:44Z |
| publishDate | 2002-12-01 |
| publisher | Tehran University of Medical Sciences |
| record_format | Article |
| series | Acta Medica Iranica |
| spelling | doaj.art-383d55d3bc884da5b4eafa82aebb830e2022-12-22T01:57:00ZengTehran University of Medical SciencesActa Medica Iranica0044-60251735-96942002-12-01404Leigh syndrome: Clinical and paraclinical study "Ashrafi MR0 Ghofrani M1 Ghojevand N "2 During two years study about mitochondrial disease (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 neuroimaging findings of the patients.https://acta.tums.ac.ir/index.php/acta/article/view/2618Leigh syndromeMitochondrial diseaseDystoniaEncephalopathyLethargyBlood ammonia |
| spellingShingle | "Ashrafi MR Ghofrani M Ghojevand N " Leigh syndrome: Clinical and paraclinical study Acta Medica Iranica Leigh syndrome Mitochondrial disease Dystonia Encephalopathy Lethargy Blood ammonia |
| title | Leigh syndrome: Clinical and paraclinical study |
| title_full | Leigh syndrome: Clinical and paraclinical study |
| title_fullStr | Leigh syndrome: Clinical and paraclinical study |
| title_full_unstemmed | Leigh syndrome: Clinical and paraclinical study |
| title_short | Leigh syndrome: Clinical and paraclinical study |
| title_sort | leigh syndrome clinical and paraclinical study |
| topic | Leigh syndrome Mitochondrial disease Dystonia Encephalopathy Lethargy Blood ammonia |
| url | https://acta.tums.ac.ir/index.php/acta/article/view/2618 |
| work_keys_str_mv | AT ashrafimr leighsyndromeclinicalandparaclinicalstudy AT ghofranim leighsyndromeclinicalandparaclinicalstudy AT ghojevandn leighsyndromeclinicalandparaclinicalstudy |