Clinical Pathological Correlation

Singer, Harvey S.; Rorke, Lucy B.

doi:10.1159/000120215

Cited by 4 publications

(1 citation statement)

References 9 publications

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“…2,5,15,32 These findings are supported by segmental abnormalities on pathologic studies. 1,16,29 Several investigators have reported on electrophysiologic abnormalities in patients with MLD, mostly in the form of single case reports, 3,8,9,18,22,30,31 although some patient series include late infantile or early juvenile MLD. 13,21,24,28,33 Conduction velocities were significantly reduced (10 -30 m/s) and CMAP amplitudes were diminished or, rarely, normal.…”

Section: Discussionmentioning

confidence: 99%

Multifocal slowing of nerve conduction in metachromatic leukodystrophy

et al. 2004

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Polyneuropathy is invariably associated with the late-infantile form of metachromatic leukodystrophy (MLD), and occurs frequently in the early juvenile, juvenile, and adult variants. Uniform slowing of nerve conduction velocity is the neurophysiologic hallmark of metachromatic leukodystrophy and other inherited demyelinating polyneuropathies. To evaluate the consistency of this principle, we reviewed nerve conduction studies in 9 children with late-infantile or early-juvenile metachromatic leukodystrophy. Each child had significant slowing of motor nerve conduction velocity (NCV). The compound muscle action potentials showed abnormal temporal dispersion in 3 of the 9 children, which is usually regarded as the hallmark of acquired demyelinating polyneuropathies. There are reports of multifocal slowing in other hereditary processes including X-linked Charcot-Marie-Tooth disease, hereditary neuropathy with liability to pressure palsies, and adrenomyeloneuropathy. Although multifocal NCV slowing in a child with polyneuropathy is seen most commonly in acquired conditions, a hereditary process, including MLD, cannot always be excluded in this setting.

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