Distrofia muscular congénita: reporte de caso y revisión de la literatura
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nov 1, 2010
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Resumen
Las distrofias musculares congénitas son entidades con herencia autosómica recesiva. Se clasifican en las que comprometen el sistema nervioso central y las que no lo hacen (forma clásica). Este último grupo se subdivide en distrofias sin déficit de merosina y con déficit de merosina.
Se reporta el caso de un paciente con hipotonía grave, contracturas articulares y compromiso de la sustancia blanca del sistema nervioso central. Se considera el diagnóstico de distrofia muscular congénita con posible déficit de merosina.
Keywords
distrofia muscular, hipotonía, merosina, muscular dystrophy, hypotonia, merosin,
References
1. Emery A. The muscular dystrophies. Lancet. 2002;359:687-95.
2. Nakanishi T, Sakauchi M, Kaneda Y, Tomimatsu H, Saito K, Nakazawa M, Osawa M. Cardiac involvement in Fukuyama-type congenital muscular dystrophy. Pediatrics. 2006;117:1187-92.
3. Tsao CY, Mendell JR. The childhood muscular dystrophies: Making order out of chaos. Semin Neurol. 1999;19:9- 23.
4. Sunada Y, Edgar TS, Lotz BP, Rust RS, Campbell KP. Merosin negative congenital muscular dystrophy associated with extensive brain abnormalities. Neurology. 1995;45:2084-9.
5. Hui CM, Kwong l, Lam SY, Loo KT. Merosin-deficient congenital muscular dystrophy in two siblings. Hong Kong Med J. 2004;10:423-6.
6. Philpot J, Sewry C, Pennock J, Dubowitz V. Clinical phenotype in
congenital muscular dystrophy: correlation with expression of merosin in
skeletal muscle. Neuromuscul Disord. 1995;5:301-5.
7. Spyrou N, Philpot J, Foale R, Camici PG, Muntoni F. Evidence of left ventricular dysfunction in children with merosindeficient congenital muscular dystrophy. Am Heart J. 1998;136:474-6.
8. Villanova M, Malandrini A, Sabatelli P, Sewry CA, Toti P, Torrelli S, Six J, Scarfó G, Palma L, Muntoni F, Squarzoni S, Tosi P, Maraldi NM,
Guazzi GC. Localization of laminin alpha 2 chain in normal human central
nervous system: An immunofluorescence and ultrastructural study. Acta
Neuropathol. (Berlin) 1997;94:567-71.
9. Villanova M, Malandrini A, Toti P, Salvestroni R, Six J, Martin JJ, Guazzi
GC. Localization of merosin in the normal human brain: implications for congenital muscular dystrophy with merosin deficiency. J Submicrosc Cytol Pathol. 1996;28:1-4.
10. Leite C, Reed U, Otaduy M, Lacerda M, Costa MO, Ferreira L, Carvalho M, Resende M, Marie S, Cerri G. Congenital muscular dystrophy with merosin deficiency: 1H RM spectroscopy and diffusion-weighted MR imaging. Radiology. 2005;235:190-6.
11. Morandi L, Di Blasi C, Farina L, Sorokin L, Uziel G, Azan G, Pini A,
Toscano A, Lanfossi M, Galbiati S, Cornelio F, Mora M. Clinical correlations in 16 patients with total or partial laminin a2 deficiency characterized using antibodies against 2 fragments of the protein. Arch Neurol. 1999; 56:209-15.
12. Jones K, Morgan G, Johnston H, Tobias V, Ouvrier R, Wilkinson I, North K. The expanding phenotype of laminin a2 chain (merosin) abnormalities: Case series and review. J Med Genet. 2001; 38:649-57.
13. Kuang W, Xu H, Vachon P, Liu L, Loechel F, Wewer U, Engvall E.
Merosin/deficient congenital muscular dystrophy, partial genetic correction in two mouse models. J Clin Invest. 1998;102:844-52.
2. Nakanishi T, Sakauchi M, Kaneda Y, Tomimatsu H, Saito K, Nakazawa M, Osawa M. Cardiac involvement in Fukuyama-type congenital muscular dystrophy. Pediatrics. 2006;117:1187-92.
3. Tsao CY, Mendell JR. The childhood muscular dystrophies: Making order out of chaos. Semin Neurol. 1999;19:9- 23.
4. Sunada Y, Edgar TS, Lotz BP, Rust RS, Campbell KP. Merosin negative congenital muscular dystrophy associated with extensive brain abnormalities. Neurology. 1995;45:2084-9.
5. Hui CM, Kwong l, Lam SY, Loo KT. Merosin-deficient congenital muscular dystrophy in two siblings. Hong Kong Med J. 2004;10:423-6.
6. Philpot J, Sewry C, Pennock J, Dubowitz V. Clinical phenotype in
congenital muscular dystrophy: correlation with expression of merosin in
skeletal muscle. Neuromuscul Disord. 1995;5:301-5.
7. Spyrou N, Philpot J, Foale R, Camici PG, Muntoni F. Evidence of left ventricular dysfunction in children with merosindeficient congenital muscular dystrophy. Am Heart J. 1998;136:474-6.
8. Villanova M, Malandrini A, Sabatelli P, Sewry CA, Toti P, Torrelli S, Six J, Scarfó G, Palma L, Muntoni F, Squarzoni S, Tosi P, Maraldi NM,
Guazzi GC. Localization of laminin alpha 2 chain in normal human central
nervous system: An immunofluorescence and ultrastructural study. Acta
Neuropathol. (Berlin) 1997;94:567-71.
9. Villanova M, Malandrini A, Toti P, Salvestroni R, Six J, Martin JJ, Guazzi
GC. Localization of merosin in the normal human brain: implications for congenital muscular dystrophy with merosin deficiency. J Submicrosc Cytol Pathol. 1996;28:1-4.
10. Leite C, Reed U, Otaduy M, Lacerda M, Costa MO, Ferreira L, Carvalho M, Resende M, Marie S, Cerri G. Congenital muscular dystrophy with merosin deficiency: 1H RM spectroscopy and diffusion-weighted MR imaging. Radiology. 2005;235:190-6.
11. Morandi L, Di Blasi C, Farina L, Sorokin L, Uziel G, Azan G, Pini A,
Toscano A, Lanfossi M, Galbiati S, Cornelio F, Mora M. Clinical correlations in 16 patients with total or partial laminin a2 deficiency characterized using antibodies against 2 fragments of the protein. Arch Neurol. 1999; 56:209-15.
12. Jones K, Morgan G, Johnston H, Tobias V, Ouvrier R, Wilkinson I, North K. The expanding phenotype of laminin a2 chain (merosin) abnormalities: Case series and review. J Med Genet. 2001; 38:649-57.
13. Kuang W, Xu H, Vachon P, Liu L, Loechel F, Wewer U, Engvall E.
Merosin/deficient congenital muscular dystrophy, partial genetic correction in two mouse models. J Clin Invest. 1998;102:844-52.
Cómo citar
Acosta Guío, J., & Zarante Montoya, I. (2010). Distrofia muscular congénita: reporte de caso y revisión de la literatura. Universitas Medica, 51(4), 409–417. https://doi.org/10.11144/Javeriana.umed51-4.dmcr
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Reportes de caso