title: Nonmuscular involvement in merosin-negative congenital muscular dystrophy.
abstract: The spectrum of nonmuscular involvement in six children with merosin-negative congenital muscular dystrophy is described. In all children, biochemical, neuroradiologic, cardiac, and neurophysiologic studies were performed. Cerebral structures that were myelinated at gestation, including internal capsule, corpus callosum, brainstem, and cerebellar white matter, demonstrated no abnormalities, whereas the periventricular and subcortical white matter, which were myelinated in the first postnatal year, demonstrated signs of leukoencephalopathy. Cerebrospinal fluid analysis revealed an elevated albumin cerebrospinal fluid to serum ratio in the younger children. Electroencephalogram results were abnormal in the two elder children. One child suffered from congestive cardiomyopathy. The increase in nerve conduction velocity in these children over the years lagged behind those of healthy patients, pointing to a demyelinating neuropathy. We conclude that in merosin-negative congenital muscular dystrophy patients, nonmuscular involvement includes the central and peripheral nervous system and the heart. The pattern of myelination of the brain and nerve conduction slowing suggests a myelination arrest. Merosin deficiency can give rise to a congestive cardiomyopathy, which is of no clinical relevance in the majority of children.
authors.affiliation: Department of Paediatric Neurology, Neuromuscular Centre, University Medical Centre St Radboud, 6500 HB Nijmegen, The Netherlands.
authors.forename: H Jacobus
authors.initials: HJ
authors.lastname: Gilhuis
authors.forename: Hans J
authors.initials: HJ
authors.lastname: ten Donkelaar
authors.forename: Ronald B
authors.initials: RB
authors.lastname: Tanke
authors.forename: Dick M
authors.initials: DM
authors.lastname: Vingerhoets
authors.forename: Machiel J
authors.initials: MJ
authors.lastname: Zwarts
authors.forename: Aad
authors.initials: A
authors.lastname: Verrips
authors.forename: Fons J M
authors.initials: FJ
authors.lastname: Gabreëls
mesh_terms: D000328:Adult; D000418:Albumins / Q000134:cerebrospinal fluid; D001921:Brain / Q000002:abnormalities / Q000378:metabolism / Q000503:physiopathology; D002493:Central Nervous System Diseases / Q000150:complications* / Q000503:physiopathology; D002648:Child; D004569:Electroencephalography; D005260:Female; D006331:Heart Diseases / Q000150:complications* / Q000503:physiopathology; D006801:Humans; D007223:Infant; D007797:Laminin / Q000172:deficiency*; D007968:Leukoencephalopathy, Progressive Multifocal / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications / Q000151:congenital / Q000378:metabolism; D009431:Neural Conduction / Q000502:physiology; D010523:Peripheral Nervous System Diseases / Q000150:complications* / Q000503:physiopathology
chemical_list: D000418:Albumins; D007797:Laminin