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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| Otros Autores: | , , , , , |
| Formato: | Capítulo de libro |
| Lenguaje: | Español |
| Publicado: |
2004
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| Acceso en línea: | Registro en Scopus Handle Registro en la Biblioteca Digital |
| Aporte de: | Registro referencial: Solicitar el recurso aquí |
| LEADER | 06020caa a22006377a 4500 | ||
|---|---|---|---|
| 001 | PAPER-21134 | ||
| 003 | AR-BaUEN | ||
| 005 | 20230518205234.0 | ||
| 008 | 190411s2004 xx ||||fo|||| 00| 0 spa|d | ||
| 024 | 7 | |2 scopus |a 2-s2.0-46449127488 | |
| 040 | |a Scopus |b spa |c AR-BaUEN |d AR-BaUEN | ||
| 030 | |a RNARD | ||
| 100 | 1 | |a Romero, C. | |
| 245 | 1 | 0 | |a Leigh syndrome. Differential diagnosis in brainstem lesions |
| 246 | 3 | 1 | |a Síndrome de Leigh. Diagnóstico diferencial en lesiones de tronco cerebral |
| 260 | |c 2004 | ||
| 270 | 1 | 0 | |m Romero, C.Montañeses 2325, 1428 Buenos Aires, Argentina; email: cromero@fleni.org.ar |
| 506 | |2 openaire |e Política editorial | ||
| 504 | |a Arii, J., Tanabe, Y., Leigh Syndrome: Serial MRI and Clinical Follow-up (2000) AJNR, 21, pp. 502-1509 | ||
| 504 | |a Arbelaez, A., Castillo, M., Stone, J., MRI in 3-methylglutaconic aciduria type 1 (1999) Neuroradiology, 41, pp. 941-942 | ||
| 504 | |a Barkovich, A.J., Good, W.V., Koch, T.K., Berg, B.O., Mitochondrial Disorders: Analysis of their clinical and imaging characteristics (1993) AJNR, 14, pp. 1119-1137 | ||
| 504 | |a Cacic, C., Wilichowski, E., Mejaski-Bosnjak, V., Cytochrome c oxidase partial deficiency-associated Leigh disease presenting as an extrapyramidal syndrome (2001) J Child Neurol, 16 (8), pp. 616-619 | ||
| 504 | |a Detre, J.A., Wang, Z., Bogdan, A.R., Regional variation in Brain lactate in Leigh syndrome by localized HMRS (1991) Ann Neurol, 29, pp. 218-221 | ||
| 504 | |a DiMauro, S., Schon, E.A., Mitochondrial Respiratory-Chain Diseases (2003) N Engl J Med, 348, pp. 2656-2668 | ||
| 504 | |a DiMauro, S., De Vivo, D.C., Genetic heterogeneity in Leigh Syndrome (1996) Ann Neurol, 40, pp. 5-6 | ||
| 504 | |a DiMauro, S., Moraes, C.T., Mitochondrial Encephalomyopathies (1993) Arch Neurol, 50, pp. 1197-2108 | ||
| 504 | |a DiMauro, S., Servidei, S., Zeviani, M., Cytochrome c-oxidase deficiency in Leigh syndrome (1987) Ann Neurol, 22, pp. 498-506 | ||
| 504 | |a Jackson, M.J., Schaefer, J.A., Johnson, M.A., Presentation and clinical investigation of mitochondrial respiratory chain disease: A Study of 51 patients (1993) Brain, 118, pp. 339-357 | ||
| 504 | |a Jiang, Y.W., Quin, J., Yuan, Y., Neuropathologic and Clinical features in eight chinese patients with Leigh disease (2002) J Child Neurol, 6, pp. 450-452. , Jun 17 | ||
| 504 | |a Martinez Bermejo, A., Arcas, J., Roche, M.C., Bilateral hypodensity of the basal ganglia: Clinico-evolutionary correlation in children (2001) Rev Neurol, 33 (2), pp. 101-111 | ||
| 504 | |a Muñoz, A., Mateos, F., Simón, R., Mitochondrial diseases in children: Neuroradiological and Clinical features in 17 patients (1999) Neuroradiology, 41, pp. 920-928 | ||
| 504 | |a Nagashima, T., Mori, M., Katayama, K., cols, Adult Leigh syndrome with mitochondrial DNA mutation at 8993 (1999) Acta Neuropathol, 97, pp. 416-422 | ||
| 504 | |a Playan A, Solano Palacios A, Gonzalez de la Rosa JB, and cols. Leigh syndrome resulting from a de novo mitochondrial DNA mutation (T8993 6). Rev Neurol 2002; Jun 34 (12): 1124-1126; Savasta, S., Comi, G.P., Perini, M.P., Leigh disease: Clinical, neuroradiologic, and biochemical study of three new cases with cytochrome c oxidase deficiency (2001) J Child Neurol, 16 (8), pp. 608-613 | ||
| 504 | |a Takahashi, S., Oki, J., Miyamoto, A., Okuno, A., Proton MRS to study the metabolic changes in the brain of a patient with Leigh syndrome (1999) Brain Dev, 21 (3), pp. 200-204 | ||
| 504 | |a Topcu, M., Saatci, I., Anil Apak, R., Leigh syndrome in a 3-year-old boy with unusual brain MRI and pathologic findings (2000) AJNR, 21, pp. 224-227 | ||
| 504 | |a Valanne, L., Ketonen, L., Majander, A., Neuroradiologic Findings in Children with Mitochondrial Disorders (1998) AJNR, 19, pp. 369-377 | ||
| 520 | 3 | |a 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. |l eng | |
| 593 | |a Servicio de Resonancia Magnética, F.L.E.N.I Instituto de Investigaciones Neurológicas Raúl Carrea | ||
| 593 | |a Servicio de Neuropediatría, F.L.E.N.I Instituto de Investigaciones Neurológicas Raúl Carrea | ||
| 593 | |a Servicio de Anestesología, F.L.E.N.I Instituto de Investigaciones Neurológicas Raúl Carrea | ||
| 593 | |a Servicio de Neuropatología, F.L.E.N.I Instituto de Investigaciones Neurológicas Raúl Carrea | ||
| 593 | |a Montañeses 2325, 1428 Buenos Aires, Argentina | ||
| 690 | 1 | 0 | |a RESPIRATORY CHAIN DISEASES-MTDNA MUTATION-BRAIN MRI |
| 700 | 1 | |a Alvarez, M.G. | |
| 700 | 1 | |a Storino, O. | |
| 700 | 1 | |a Taratuto, A.L. | |
| 700 | 1 | |a Alfonso, J.M. | |
| 700 | 1 | |a Massaro, M. | |
| 700 | 1 | |a Meli, F. | |
| 773 | 0 | |d 2004 |g v. 29 |h pp. 166-168 |k n. 3 |p Rev. Neurol. Argent. |x 03250938 |t Revista Neurologica Argentina | |
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| 856 | 4 | 0 | |u https://hdl.handle.net/20.500.12110/paper_03250938_v29_n3_p166_Romero |y Handle |
| 856 | 4 | 0 | |u https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03250938_v29_n3_p166_Romero |y Registro en la Biblioteca Digital |
| 961 | |a paper_03250938_v29_n3_p166_Romero |b paper |c PE | ||
| 962 | |a info:eu-repo/semantics/article |a info:ar-repo/semantics/artículo |b info:eu-repo/semantics/publishedVersion | ||
| 999 | |c 82087 | ||