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DOI: 10.1055/s-0035-1557259
Axonal involvement with white matter abnormalities in merosin-positive congenital muscular dystrophy: A new association
Verantwortlicher Herausgeber dieser Rubrik:
Publikationsverlauf
19. Oktober 2003
22. Dezember 2004
Publikationsdatum:
29. Juli 2015 (online)
Abstract
An 18-month-old infant who presented with delayed motor development, hypotonia and absent deep tendon reflexes and normal cognitive development was diagnosed to have merosin-positive congenital muscular dystrophy (MP-CMD) on the basis of raised serum levels of creatine kinase, features suggestive of myopathy on electrophysiological studies, dystrophic muscle pathology and normal immunohistochemistry for merosin (laminin-α2). Neuroimaging studies demonstrated white matter hyperintensities on T2-weighted images similar to that seen in patients with merosin negative (MN-CMD). Electrophysiological studies also demonstrated features of axonal involvement. This finding has not been previously described in association with MP-CMD. Although we have not been able to exclude abnormal glycosylation of α-dystroglycan, this case expands the clinical phenotype of MP-CMD and suggests that neuroimaging of children with CMD may be useful in the identification of variants of MP-CMD.