SEQUENTIAL STUDY OF CENTRAL AND PERIPHERAL NERVOUS-SYSTEM INVOLVEMENTIN AN INFANT WITH MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY

Diffuse white matter changes on brain imaging and peripheral neuropath y are associated features of merosin-deficient congenital muscular dys trophy (CMD). In this report we describe the early manifestation and e volution of brain changes, and the involvement of the peripheral nervo us system in a female infant with merosin-deficient CMD diagnosed in t he neonatal period who had sequential clinical, neurophysiological and magnetic resonance imaging (MRI) assessment. Both MRI and nerve condu ction velocity in the first week of life failed to demonstrate any abn ormality. By 6 months of age both nerve conduction and MRI were abnorm al. White matter changes became more evident on a further scan at 1 yr of age and this pattern remained unchanged on the following scan perf ormed at 17 months of age. Our findings suggest a failure in the physi ological maturation process of myelination of both the central and per ipheral nervous system.