Leigh syndrome. Differential diagnosis in brainstem lesions

We report the case of a 4 year-old-girl with a late infatile onset encephalopathy and first metabolic crisis at the age of 16 months resulting in pyramidal and extrapyramidal involvement associated with severe axial hypotonia.Later she developed ocular movement and sleep abnormalities and recurrent...

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Autores principales: Romero, C., Alvarez, M.G., Storino, O., Taratuto, A.L., Alfonso, J.M., Massaro, M., Meli, F.
Formato: JOUR
Materias:
Respiratory chain diseases-mtDNA mutation-Brain MRI
Acceso en línea:http://hdl.handle.net/20.500.12110/paper_03250938_v29_n3_p166_Romero
Aporte de:
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires
id todo:paper_03250938_v29_n3_p166_Romero
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spelling todo:paper_03250938_v29_n3_p166_Romero2023-10-03T15:23:17Z Leigh syndrome. Differential diagnosis in brainstem lesions Romero, C. Alvarez, M.G. Storino, O. Taratuto, A.L. Alfonso, J.M. Massaro, M. Meli, F. Respiratory chain diseases-mtDNA mutation-Brain MRI We report the case of a 4 year-old-girl with a late infatile onset encephalopathy and first metabolic crisis at the age of 16 months resulting in pyramidal and extrapyramidal involvement associated with severe axial hypotonia.Later she developed ocular movement and sleep abnormalities and recurrent intestinal pseudo-occlusive epidoses. Metabolic workup was normal in blood and urine, with high lactate on CSF. Muscle histopathologic and histochemical revealed normal structure with evidences of increased oxidative mitocondrial activity. MRI showed symmetrical and bilateral brain stem lesions with low signal in T1 and high signal in T2 and difusion-weighted images. The clinical evolution and radiological abnormalities are consistent with the infantile form of Leigh Syndrome. JOUR info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by/2.5/ar http://hdl.handle.net/20.500.12110/paper_03250938_v29_n3_p166_Romero
institution Universidad de Buenos Aires
institution_str I-28
repository_str R-134
collection Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA)
topic Respiratory chain diseases-mtDNA mutation-Brain MRI
spellingShingle Respiratory chain diseases-mtDNA mutation-Brain MRI
Romero, C.
Alvarez, M.G.
Storino, O.
Taratuto, A.L.
Alfonso, J.M.
Massaro, M.
Meli, F.
Leigh syndrome. Differential diagnosis in brainstem lesions
topic_facet Respiratory chain diseases-mtDNA mutation-Brain MRI
description We report the case of a 4 year-old-girl with a late infatile onset encephalopathy and first metabolic crisis at the age of 16 months resulting in pyramidal and extrapyramidal involvement associated with severe axial hypotonia.Later she developed ocular movement and sleep abnormalities and recurrent intestinal pseudo-occlusive epidoses. Metabolic workup was normal in blood and urine, with high lactate on CSF. Muscle histopathologic and histochemical revealed normal structure with evidences of increased oxidative mitocondrial activity. MRI showed symmetrical and bilateral brain stem lesions with low signal in T1 and high signal in T2 and difusion-weighted images. The clinical evolution and radiological abnormalities are consistent with the infantile form of Leigh Syndrome.
format JOUR
author Romero, C.
Alvarez, M.G.
Storino, O.
Taratuto, A.L.
Alfonso, J.M.
Massaro, M.
Meli, F.
author_facet Romero, C.
Alvarez, M.G.
Storino, O.
Taratuto, A.L.
Alfonso, J.M.
Massaro, M.
Meli, F.
author_sort Romero, C.
title Leigh syndrome. Differential diagnosis in brainstem lesions
title_short Leigh syndrome. Differential diagnosis in brainstem lesions
title_full Leigh syndrome. Differential diagnosis in brainstem lesions
title_fullStr Leigh syndrome. Differential diagnosis in brainstem lesions
title_full_unstemmed Leigh syndrome. Differential diagnosis in brainstem lesions
title_sort leigh syndrome. differential diagnosis in brainstem lesions
url http://hdl.handle.net/20.500.12110/paper_03250938_v29_n3_p166_Romero
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AT alvarezmg leighsyndromedifferentialdiagnosisinbrainstemlesions
AT storinoo leighsyndromedifferentialdiagnosisinbrainstemlesions
AT taratutoal leighsyndromedifferentialdiagnosisinbrainstemlesions
AT alfonsojm leighsyndromedifferentialdiagnosisinbrainstemlesions
AT massarom leighsyndromedifferentialdiagnosisinbrainstemlesions
AT melif leighsyndromedifferentialdiagnosisinbrainstemlesions
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