Neurophysiologic studies and MRI in Pelizaeus-Merzbacher disease: Comparison of classic and connatal forms
Journal
Pediatric Neurology
Journal Volume
12
Journal Issue
1
Pages
47-53
Date Issued
1995
Author(s)
Abstract
Four patients with the classic form and 1 patient with the connatal form of Pelizaeus-Merzbacher disease were studied with magnetic resonance imaging, electroencephalography, and multimodal evoked potentials, including brainstem auditory evoked potentials, somatosensory evoked potentials, and visual evoked potentials. Comparisons between these findings were made. It was determined that the neurophysiologic studies, particularly brainstem auditory evoked potentials, are of value in early diagnosis of Pelizaeus-Merzbacher disease; brainstem auditory evoked potentials with only normal wave I may be a relatively reliable clue suggesting the classic form of Pelizaeus-Merzbacher disease in patients with nystagmus and chronic progressive encephalopathy. Magnetic resonance imaging allows an accurate assessment of the degree of hypomyelination; however, the clinical severity of various forms of Pelizaeus-Merzbacher disease seemed to be independent of the age of onset and the amount of residual myelin. The following may be distinguishing features between the connatal and classic forms of Pelizaeus-Merzbacher disease: hypoplasia of the cerebellum and brainstem, and diffuse brain atrophy on magnetic resonance imaging; optic atrophy with abnormal visual evoked potential; seizure disorder with abnormal electroencephalography, and/or auditory nerve impairment with abnormal wave I of brainstem auditory evoked potentials in the early stage of the disease. ? 1995.
SDGs
Other Subjects
article; child; clinical article; computer assisted tomography; disease severity; electroencephalography; evoked auditory response; evoked somatosensory response; evoked visual response; human; infant; male; motor nerve conduction; myelination; nuclear magnetic resonance imaging; pelizaeus merzbacher disease; priority journal; sensory nerve conduction; Adult; Atrophy; Brain; Child; Child, Preschool; Comparative Study; Diagnosis, Differential; Diffuse Cerebral Sclerosis of Schilder; Electroencephalography; Evoked Potentials; Female; Human; Infant; Magnetic Resonance Imaging; Male; Nerve Fibers, Myelinated; Neurologic Examination; Phenotype; Reaction Time
Type
journal article