Late onset Leigh syndrome: about an observation
Autor: | ahira BARKA-BEDRANE, Djaoued BOUCHENAK-KHELLADI, Cherifa LOUHIBI, Hakim CHIALI |
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Jazyk: | English<br />French |
Rok vydání: | 2020 |
Předmět: | |
Zdroj: | Journal de la Faculté de Médecine d'Oran, Vol 4, Iss 2 (2020) |
Druh dokumentu: | article |
ISSN: | 2571-9874 2602-6511 |
Popis: | Leigh Syndrome (LS) is a rare childhood mitochondriopathy characterized by clinical polymorphism. Generally, it begins at the age of 2 years .We report the case of a 13 year old patient, born from on inbred marriage,she resented a significant decrease of visual acuity at the age of 9 years. Towards the age of 13 years, she presented bulbar and walking disorders. The neurological examination found a ppyramidal, an extrapyramidal, a neurogenic syndromes and a kyphoscoliosis. Brain MRI objectified a bilateral and symmetrical hyper signal in the brainstem, the basal ganglia and the periaqueductal region. Brain spectro-MRI found a peak in lactates. |
Databáze: | Directory of Open Access Journals |
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