title: 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.
authors.affiliation: Sarah Network of Hospitals for Rehabilitation, Praça Antonio Callado 175/106, 22793-084 Rio de Janeiro, RJ, Brazil. andrepcmatta@hotmail.com
authors.forename: André Palma da Cunha
authors.initials: AP
authors.lastname: Matta
authors.forename: Márcia de Castro Diniz
authors.initials: Mde C
authors.lastname: Gonsalves
mesh_terms: D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000032:analysis; D001921:Brain / Q000378:metabolism*; D002794:Choline / Q000032:analysis; D003401:Creatine / Q000032:analysis; D005260:Female; D006801:Humans; D007223:Infant; D007797:Laminin / Q000032:analysis*; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D009136:Muscular Dystrophies / Q000378:metabolism* / Q000473:pathology*
chemical_list: D007797:Laminin; D001224:Aspartic Acid; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline