Acquired versus familial demyelinative neuropathies in children.
The electrophysiologic differences between chronic acquired demyelinative neuropathy and the demyelinative form of Charcot-Marie-Tooth disease have recently been reported. The present report extends these observations to include the genetically determined demyelinating neuropathies seen in metachromatic leukodystrophy, Krabbe's leukodystrophy, and Cockayne's syndrome. The electrophysiologic features of metachromatic leukodystrophy (five patients), Krabbe's (four patients), and Cockayne's syndrome (three patients) were all similar. There was uniform slowing of conduction (both in different nerves and in different nerve segments), and conduction block was not seen. These findings are consistent with a uniform degree of demyelination in multiple nerves and throughout the entire length of individual axons. Thus, uniform slowing of nerve conduction constitutes strong evidence for a familial demyelinative neuropathy, as opposed to the multifocal slowing seen in acute and chronic acquired demyelinative neuropathy.
D000293:Adolescent; D002675:Child, Preschool; D003057:Cockayne Syndrome / Q000503:physiopathology; D003711:Demyelinating Diseases / Q000209:etiology / Q000235:genetics / Q000503:physiopathology*; D004594:Electrophysiology; D005071:Evoked Potentials; D006801:Humans; D007223:Infant; D007965:Leukodystrophy, Globoid Cell / Q000503:physiopathology; D007966:Leukodystrophy, Metachromatic / Q000503:physiopathology; D009046:Motor Neurons / Q000502:physiology; D009431:Neural Conduction