title: Sequential study of central and peripheral nervous system involvement in an infant with merosin-deficient congenital muscular dystrophy.
abstract: Diffuse white matter changes on brain imaging and peripheral neuropathy are associated features of merosin-deficient congenital muscular dystrophy (CMD). In this report we describe the early manifestation and evolution of brain changes, and the involvement of the peripheral nervous system in a female infant with merosin-deficient CMD diagnosed in the neonatal period who had sequential clinical, neurophysiological and magnetic resonance imaging (MRI) assessment. Both MRI and nerve conduction velocity in the first week of life failed to demonstrate any abnormality. By 6 months of age both nerve conduction and MRI were abnormal. White matter changes became more evident on a further scan at 1 yr of age and this pattern remained unchanged on the following scan performed at 17 months of age. Our findings suggest a failure in the physiological maturation process of myelination of both the central and peripheral nervous system.
authors.affiliation: Department of Paediatrics and Neonatal Medicine, Hammersmith Hospital, Royal Postgraduate Medical School, London, UK.
authors.forename: E
authors.initials: E
authors.lastname: Mercuri
authors.forename: J
authors.initials: J
authors.lastname: Pennock
authors.forename: F
authors.initials: F
authors.lastname: Goodwin
authors.forename: C
authors.initials: C
authors.lastname: Sewry
authors.forename: F
authors.initials: F
authors.lastname: Cowan
authors.forename: L
authors.initials: L
authors.lastname: Dubowitz
authors.forename: V
authors.initials: V
authors.lastname: Dubowitz
authors.forename: F
authors.initials: F
authors.lastname: Muntoni
mesh_terms: D002493:Central Nervous System Diseases / Q000151:congenital / Q000175:diagnosis / Q000503:physiopathology*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D007797:Laminin / Q000172:deficiency*; D008279:Magnetic Resonance Imaging; D009136:Muscular Dystrophies / Q000151:congenital / Q000175:diagnosis / Q000503:physiopathology*; D010523:Peripheral Nervous System Diseases / Q000151:congenital / Q000175:diagnosis / Q000503:physiopathology*
chemical_list: D007797:Laminin