Congenital muscular dystrophy: case report and review of the literature
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Nov 1, 2010
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Abstract
Congenital muscular dystrophies are autosomal recessive inherited disorders. There are two categories depending on the structural involvement of the central nervous system. The classic form of congenital muscular dystrophy can be subdivided into two groups the merosin-negative and merosin-positive.
We describe the case of a patient with severe hypotonia, joint contractures and white matter changes in the central nervous system, the authors considered to be a case of merosindeficient congenital muscular dystrophy.
Keywords
distrofia muscular, hipotonía, merosina, muscular dystrophy, hypotonia, merosin,
References
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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.
How to Cite
Acosta Guío, J., & Zarante Montoya, I. (2010). Congenital muscular dystrophy: case report and review of the literature. Universitas Medica, 51(4), 409–417. https://doi.org/10.11144/Javeriana.umed51-4.dmcr
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Case Reports