Merosin-positive congenital muscular dystrophy: neuroimaging findings.

Abstract:

: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.

journal_name

Arq Neuropsiquiatr

authors

Matta AP,Gonsalves Mde C

doi

10.1590/s0004-282x2007000100035

subject

Has Abstract

pub_date

2007-03-01 00:00:00

pages

167-9

issue

1

eissn

0004-282X

issn

1678-4227

pii

S0004-282X2007000100035

journal_volume

65

pub_type

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