title: Somatosensory and visual evoked potentials in congenital muscular dystrophy: correlation with MRI changes and muscle merosin status.
abstract: Congenital muscular dystrophy comprises a heterogeneous group of disorders, that have in common an early onset and a dystrophic picture on the muscle biopsy. The "pure" form of congenital muscular dystrophy is not associated with severe mental retardation or structural changes in the brain, though white matter changes on brain imaging have been detected in a significant proportion of cases. In this study we evaluated the incidence of sensory abnormalities (somatosensory and visual evoked responses) in a group of 17 patients with "pure" congenital muscular dystrophy and correlated the results of the evoked responses with the presence or absence of white matter changes on brain magnetic resonance imaging. Our results show close correlation between the presence of MRI white matter changes and abnormalities in the sensory evoked potentials. Conversely, all patients with normal brain MRI had normal somatosensory evoked potentials (SEP). Visual evoked potentials were less sensitive than somatosensory evoked potentials in detecting abnormalities in children with white matter changes on MRI. With the recent discovery of deficiency in merosin expression in the skeletal muscle of a subgroup of patients with CMD, we also correlated the presence or absence of white matter changes and the SEP responses with the merosin status. The results indicate that all merosin-negative patients had abnormal SEP as well as abnormal MRI, whilst no patient with normal merosin expression had an abnormal scan or abnormal SEP.(ABSTRACT TRUNCATED AT 250 WORDS)
authors.affiliation: Department of Paediatrics and Neonatal Medicine, Hammersmith Hospital, London, UK.
authors.forename: E
authors.initials: E
authors.lastname: Mercuri
authors.forename: F
authors.initials: F
authors.lastname: Muntoni
authors.forename: A
authors.initials: A
authors.lastname: Berardinelli
authors.forename: J
authors.initials: J
authors.lastname: Pennock
authors.forename: C
authors.initials: C
authors.lastname: Sewry
authors.forename: J
authors.initials: J
authors.lastname: Philpot
authors.forename: V
authors.initials: V
authors.lastname: Dubowitz
mesh_terms: D000293:Adolescent; D001921:Brain / Q000000981:diagnostic imaging / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D005073:Evoked Potentials, Somatosensory; D005074:Evoked Potentials, Visual; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000737:chemistry* / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000151:congenital* / Q000175:diagnosis* / Q000503:physiopathology; D011859:Radiography