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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282XOn-line version ISSN 1678-4227

Abstract

MATTA, André Palma da Cunha  and  GONSALVES, Márcia de Castro Diniz. Merosin-positive congenital muscular dystrophy: neuroimaging findings. Arq. Neuro-Psiquiatr. [online]. 2007, vol.65, n.1, pp.167-169. ISSN 0004-282X.  http://dx.doi.org/10.1590/S0004-282X2007000100035.

Congenital muscle dystrophy (CMD) is a heterogeneous group of autosomal recessive myopathies. It is known that CMD may affect the central nervous system (CNS). Some authors have shown that merosin-negative CMD patients may have encephalic metabolic disturbances. In order to study metabolic changes within the brain, the authors performed a magnetic resonance spectroscopy (MRS) study in a 1-year-old girl with merosin-positive CMD (MP-CMD). MRS of brain demonstrated that NAA/Cr ratio was decreased (1.52), while Cho/Cr ratio was increased (1.78). These findings suggest that metabolic changes in CNS can also be found in patients with MP-CMD.

Keywords : congenital muscle dystrophy; merosin; magnetic resonance.

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